"ClinGen Curation Activity Summary Report - FILE CREATED: 2025-11-02","","","","","","","","","","","","","","","",""
"README 1: "," This file provides summary curation information about Gene-Disease Validity, Dosage Sensitivity, and Clinical Actionability. Curations for each activity are grouped by gene (HGNC) and disease (MONDO).","","","","","","","","","","","","","","",""
"README 2: "," Noted columns may have multiple entries: mode_of_inheritance, gene_disease_validity_assertion_classifications, gene_disease_validity_assertion_reports, gene_disease_validity_gceps, actionability_assertion_classifications, actionability_assertion_reports, and actionability_groups.  If so, the entries will be seperated by a | (pipe).","","","","","","","","","","","","","","",""
"gene_symbol","hgnc_id","gene_url","disease_label","mondo_id","disease_url","mode_of_inheritance","dosage_haploinsufficiency_assertion","dosage_triplosensitivity_assertion","dosage_report","dosage_group","gene_disease_validity_assertion_classifications","gene_disease_validity_assertion_reports","gene_disease_validity_gceps","actionability_assertion_classifications","actionability_assertion_reports","actionability_groups"
"A2ML1","HGNC:23336","https://search.clinicalgenome.org/kb/genes/HGNC:23336","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","","","","","disputing (06/07/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d910a9d8-516e-443d-acba-8d61f7574792-2018-06-07T160000.000Z","RASopathy","","",""
"A4GALT","HGNC:18149","https://search.clinicalgenome.org/kb/genes/HGNC:18149","A4GALT-congenital disorder of glycosylation","MONDO:0100587","https://search.clinicalgenome.org/kb/conditions/MONDO:0100587","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (12/11/2014)","0 - No Evidence for Triplosensitivity (12/11/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18149","Dosage Working Group","definitive evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e3a8df0-77f1-4395-b501-63a96016e515-2025-05-30T170000.000Z","Congenital Disorders of Glycosylation","","",""
"AAGAB","HGNC:25662","https://search.clinicalgenome.org/kb/genes/HGNC:25662","palmoplantar keratoderma, punctate type 1A","MONDO:0007858","https://search.clinicalgenome.org/kb/conditions/MONDO:0007858","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/28/2013)","0 - No Evidence for Triplosensitivity (02/28/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25662","Dosage Working Group","","","","","",""
"AARS1","HGNC:20","https://search.clinicalgenome.org/kb/genes/HGNC:20","Charcot-Marie-Tooth disease axonal type 2N","MONDO:0013212","https://search.clinicalgenome.org/kb/conditions/MONDO:0013212","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (01/11/2018)","0 - No Evidence for Triplosensitivity (01/11/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20","Dosage Working Group","definitive evidence (03/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92de3832-c272-4993-8586-288c6331dec2-2024-03-14T160000.000Z","Charcot-Marie-Tooth","","",""
"AARS1","HGNC:20","https://search.clinicalgenome.org/kb/genes/HGNC:20","AARS1-related leukoencephalopathy","MONDO:1010132","https://search.clinicalgenome.org/kb/conditions/MONDO:1010132","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (01/11/2018)","0 - No Evidence for Triplosensitivity (01/11/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20","Dosage Working Group","limited evidence (08/27/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3cfbfccc-95a9-4271-b8a2-8b6d2bcc1b27-2025-08-27T170000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"AARS2","HGNC:21022","https://search.clinicalgenome.org/kb/genes/HGNC:21022","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/27/2025)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21022","Dosage Working Group","definitive evidence (04/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_583e237c-18f6-4427-a04f-82ea0f020daf-2022-04-18T160000.000Z","Mitochondrial Diseases","","",""
"AARS2","HGNC:21022","https://search.clinicalgenome.org/kb/genes/HGNC:21022","leukoencephalopathy, progressive, with ovarian failure","MONDO:0014387","https://search.clinicalgenome.org/kb/conditions/MONDO:0014387","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (06/27/2025)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21022","Dosage Working Group","","","","","",""
"AASS","HGNC:17366","https://search.clinicalgenome.org/kb/genes/HGNC:17366","hyperlysinemia","MONDO:0009388","https://search.clinicalgenome.org/kb/conditions/MONDO:0009388","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/08/2025)","0 - No Evidence for Triplosensitivity (10/08/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17366","Dosage Working Group","definitive evidence (10/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92e04f9e-f03e-4295-baac-e9fb6b48a258-2022-10-14T160000.000Z","Aminoacidopathy","","",""
"ABAT","HGNC:23","https://search.clinicalgenome.org/kb/genes/HGNC:23","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23","Dosage Working Group","moderate evidence (04/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a5138ad-d4b8-4ea1-aa78-b5d1f07b2b82-2022-04-19T160000.000Z","Epilepsy","","",""
"ABAT","HGNC:23","https://search.clinicalgenome.org/kb/genes/HGNC:23","GABA aminotransaminase deficiency","MONDO:0013166","https://search.clinicalgenome.org/kb/conditions/MONDO:0013166","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23","Dosage Working Group","","","","","",""
"ABCA3","HGNC:33","https://search.clinicalgenome.org/kb/genes/HGNC:33","interstitial lung disease due to ABCA3 deficiency","MONDO:0012582","https://search.clinicalgenome.org/kb/conditions/MONDO:0012582","Autosomal recessive inheritance","","","","","definitive evidence (09/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3e2d402-69a2-496f-af67-ba3aae132eab-2024-09-17T160000.000Z","Interstitial Lung Disease","","",""
"ABCA4","HGNC:34","https://search.clinicalgenome.org/kb/genes/HGNC:34","ABCA4-related retinopathy","MONDO:0800406","https://search.clinicalgenome.org/kb/conditions/MONDO:0800406","Autosomal recessive inheritance","","","","","definitive evidence (10/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38729563-bf36-48ae-929e-fa69a225de39-2022-10-06T160000.000Z","Retina","","",""
"ABCA4","HGNC:34","https://search.clinicalgenome.org/kb/genes/HGNC:34","age related macular degeneration 2","MONDO:0007932","https://search.clinicalgenome.org/kb/conditions/MONDO:0007932","Autosomal dominant inheritance","","","","","disputing (03/06/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f249e6f-9a1c-4c82-893b-dfaa327cc06b-2025-03-06T170000.000Z","Retina","","",""
"ABCB11","HGNC:42","https://search.clinicalgenome.org/kb/genes/HGNC:42","progressive familial intrahepatic cholestasis type 2","MONDO:0011156","https://search.clinicalgenome.org/kb/conditions/MONDO:0011156","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (07/08/2020)","0 - No Evidence for Triplosensitivity (07/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:42","Dosage Working Group","","","","","",""
"ABCB4","HGNC:45","https://search.clinicalgenome.org/kb/genes/HGNC:45","progressive familial intrahepatic cholestasis type 3","MONDO:0011214","https://search.clinicalgenome.org/kb/conditions/MONDO:0011214","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/16/2024)","0 - No Evidence for Triplosensitivity (04/16/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:45","Dosage Working Group","definitive evidence (11/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_009134d7-b79c-4a90-9bae-c1f302439258-2022-11-23T170000.000Z","General Gene Curation","","",""
"ABCB4","HGNC:45","https://search.clinicalgenome.org/kb/genes/HGNC:45","gallbladder disease 1","MONDO:0010939","https://search.clinicalgenome.org/kb/conditions/MONDO:0010939","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/16/2024)","0 - No Evidence for Triplosensitivity (04/16/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:45","Dosage Working Group","","","","","",""
"ABCB6","HGNC:47","https://search.clinicalgenome.org/kb/genes/HGNC:47","dyschromatosis universalis hereditaria 3","MONDO:0014169","https://search.clinicalgenome.org/kb/conditions/MONDO:0014169","Autosomal dominant inheritance","","","","","moderate evidence (04/26/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93bbbc0a-5f6f-4d80-b560-3265d7b89ed3-2024-04-26T180000.000Z","General Inborn Errors of Metabolism","","",""
"ABCB6","HGNC:47","https://search.clinicalgenome.org/kb/genes/HGNC:47","microphthalmia, isolated, with coloboma 7","MONDO:0013783","https://search.clinicalgenome.org/kb/conditions/MONDO:0013783","Autosomal dominant inheritance","","","","","limited evidence (04/26/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_45ec3fba-48fd-4bf4-b865-2c2d7216e8eb-2024-04-26T180000.000Z","General Inborn Errors of Metabolism","","",""
"ABCB7","HGNC:48","https://search.clinicalgenome.org/kb/genes/HGNC:48","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","X-linked inheritance","","","","","moderate evidence (09/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3ff096d-abfb-47df-8ac1-c942a98828b0-2023-09-28T160000.000Z","Mitochondrial Diseases","","",""
"ABCC1","HGNC:51","https://search.clinicalgenome.org/kb/genes/HGNC:51","autosomal dominant nonsyndromic hearing loss","MONDO:0019587","https://search.clinicalgenome.org/kb/conditions/MONDO:0019587","Autosomal dominant inheritance","","","","","limited evidence (10/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cdf6b5bc-f8f6-46f5-abc1-c336cd9121be-2025-10-08T160000.000Z","Hearing Loss","","",""
"ABCC4","HGNC:55","https://search.clinicalgenome.org/kb/genes/HGNC:55","qualitative platelet defect","MONDO:0001197","https://search.clinicalgenome.org/kb/conditions/MONDO:0001197","Autosomal recessive inheritance","","","","","moderate evidence (06/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2828abac-5b4a-4dad-a703-10c0daf35dbd-2024-06-03T160000.000Z","Hemostasis Thrombosis","","",""
"ABCC6","HGNC:57","https://search.clinicalgenome.org/kb/genes/HGNC:57","inherited pseudoxanthoma elasticum","MONDO:0100091","https://search.clinicalgenome.org/kb/conditions/MONDO:0100091","Semidominant inheritance","","","","","definitive evidence (10/22/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18edfc74-3c10-4d05-81e1-6622e391efae-2025-10-22T160000.000Z","Neurovascular","","",""
"ABCC8","HGNC:59","https://search.clinicalgenome.org/kb/genes/HGNC:59","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Semidominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/24/2012)","0 - No Evidence for Triplosensitivity (02/24/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:59","Dosage Working Group","definitive evidence (07/24/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33c0dfa5-c6ea-42fd-8118-be6ff97beb3e-2022-07-24T160000.000Z","Monogenic Diabetes","","",""
"ABCC8","HGNC:59","https://search.clinicalgenome.org/kb/genes/HGNC:59","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/24/2012)","0 - No Evidence for Triplosensitivity (02/24/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:59","Dosage Working Group","moderate evidence (03/12/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14b1739d-8890-4927-8efb-e909f48bad5a-2025-03-12T160000.000Z","Pulmonary Hypertension","","",""
"ABCC8","HGNC:59","https://search.clinicalgenome.org/kb/genes/HGNC:59","hyperinsulinemic hypoglycemia, familial, 1","MONDO:0009734","https://search.clinicalgenome.org/kb/conditions/MONDO:0009734","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (02/24/2012)","0 - No Evidence for Triplosensitivity (02/24/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:59","Dosage Working Group","","","","","",""
"ABCC9","HGNC:60","https://search.clinicalgenome.org/kb/genes/HGNC:60","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","limited evidence (11/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8be22ebc-f0f5-4de5-9c2a-382ebd02c533-2024-11-15T170000.000Z","Dilated Cardiomyopathy","","",""
"ABCC9","HGNC:60","https://search.clinicalgenome.org/kb/genes/HGNC:60","hypertrichotic osteochondrodysplasia Cantu type","MONDO:0009406","https://search.clinicalgenome.org/kb/conditions/MONDO:0009406","Autosomal dominant inheritance","","","","","definitive evidence (02/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53f8043c-d672-4dfd-a1b7-c5fd6e1cdcae-2025-02-21T170000.000Z","Syndromic Disorders","","",""
"ABCC9","HGNC:60","https://search.clinicalgenome.org/kb/genes/HGNC:60","Brugada syndrome","MONDO:0015263","https://search.clinicalgenome.org/kb/conditions/MONDO:0015263","Autosomal dominant inheritance","","","","","disputing (10/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c570e3b-1b32-4547-84a2-144db782025e-2025-10-28T160000.000Z","Hereditary Cardiovascular Disease","","",""
"ABCD1","HGNC:61","https://search.clinicalgenome.org/kb/genes/HGNC:61","adrenoleukodystrophy","MONDO:0018544","https://search.clinicalgenome.org/kb/conditions/MONDO:0018544","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/02/2020)","0 - No Evidence for Triplosensitivity (12/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:61","Dosage Working Group","definitive evidence (12/18/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_815e0f84-b530-4fd2-81a9-02e02bf352ee-2020-12-18T050000.000Z","Peroxisomal Disorders","Strong Actionability (12/01/2023) | Strong Actionability (12/01/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC117 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC117"," | "
"ABCD1","HGNC:61","https://search.clinicalgenome.org/kb/genes/HGNC:61","X-linked cerebral adrenoleukodystrophy","MONDO:0010247","https://search.clinicalgenome.org/kb/conditions/MONDO:0010247","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/02/2020)","0 - No Evidence for Triplosensitivity (12/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:61","Dosage Working Group","","","","Strong Actionability (12/01/2023) | Strong Actionability (12/01/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC117 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC117"," | "
"ABCD1","HGNC:61","https://search.clinicalgenome.org/kb/genes/HGNC:61","adrenomyeloneuropathy","MONDO:0015339","https://search.clinicalgenome.org/kb/conditions/MONDO:0015339","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/02/2020)","0 - No Evidence for Triplosensitivity (12/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:61","Dosage Working Group","","","","Strong Actionability (12/01/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC117",""
"ABCD1","HGNC:61","https://search.clinicalgenome.org/kb/genes/HGNC:61","isolated adrenal insufficiency","MONDO:0100315","https://search.clinicalgenome.org/kb/conditions/MONDO:0100315","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/02/2020)","0 - No Evidence for Triplosensitivity (12/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:61","Dosage Working Group","","","","Strong Actionability (12/01/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC117",""
"ABCD3","HGNC:67","https://search.clinicalgenome.org/kb/genes/HGNC:67","congenital bile acid synthesis defect 5","MONDO:0014564","https://search.clinicalgenome.org/kb/conditions/MONDO:0014564","Autosomal recessive inheritance","","","","","limited evidence (07/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8d82e6f-8ee8-4944-898b-165916c13cac-2025-07-08T160000.000Z","Peroxisomal Disorders","","",""
"ABCD4","HGNC:68","https://search.clinicalgenome.org/kb/genes/HGNC:68","methylmalonic acidemia with homocystinuria, type cblJ","MONDO:0013925","https://search.clinicalgenome.org/kb/conditions/MONDO:0013925","Autosomal recessive inheritance","","","","","moderate evidence (12/22/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_902c9288-f6bd-4068-9a5f-652b49583d93-2023-12-22T190000.000Z","General Inborn Errors of Metabolism","","",""
"ABCG5","HGNC:13886","https://search.clinicalgenome.org/kb/genes/HGNC:13886","sitosterolemia","MONDO:0008863","https://search.clinicalgenome.org/kb/conditions/MONDO:0008863","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/29/2025)","0 - No Evidence for Triplosensitivity (09/29/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13886","Dosage Working Group","definitive evidence (07/10/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c52c7403-8975-4a3f-8796-a966e977f708-2020-07-10T160000.000Z","Hemostasis Thrombosis","","",""
"ABCG5","HGNC:13886","https://search.clinicalgenome.org/kb/genes/HGNC:13886","sitosterolemia 1","MONDO:0020747","https://search.clinicalgenome.org/kb/conditions/MONDO:0020747","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (09/29/2025)","0 - No Evidence for Triplosensitivity (09/29/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13886","Dosage Working Group","","","","","",""
"ABCG8","HGNC:13887","https://search.clinicalgenome.org/kb/genes/HGNC:13887","sitosterolemia","MONDO:0008863","https://search.clinicalgenome.org/kb/conditions/MONDO:0008863","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/03/2025)","0 - No Evidence for Triplosensitivity (02/03/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13887","Dosage Working Group","definitive evidence (07/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af59edc2-1148-4dca-b804-192639017b65-2020-07-14T202806.911Z","Hemostasis Thrombosis","","",""
"ABHD12","HGNC:15868","https://search.clinicalgenome.org/kb/genes/HGNC:15868","PHARC syndrome","MONDO:0012984","https://search.clinicalgenome.org/kb/conditions/MONDO:0012984","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (07/18/2025)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15868","Dosage Working Group","definitive evidence (06/26/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccd68c20-2024-4239-be51-26697e19a6b4-2018-06-26T160000.000Z","Hearing Loss","","",""
"ABHD5","HGNC:21396","https://search.clinicalgenome.org/kb/genes/HGNC:21396","Dorfman-Chanarin disease","MONDO:0010155","https://search.clinicalgenome.org/kb/conditions/MONDO:0010155","Autosomal recessive inheritance","","","","","definitive evidence (08/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19bf65b3-0c75-46e2-8796-5664ce6dd371-2022-08-02T160000.000Z","Lysosomal Diseases GCEP","","",""
"ACAD8","HGNC:87","https://search.clinicalgenome.org/kb/genes/HGNC:87","isobutyryl-CoA dehydrogenase deficiency","MONDO:0012648","https://search.clinicalgenome.org/kb/conditions/MONDO:0012648","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (12/11/2014)","0 - No Evidence for Triplosensitivity (12/11/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:87","Dosage Working Group","definitive evidence (04/26/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d260f0e-df71-420a-9281-92e4bddcddbb-2019-04-26T160000.000Z","Aminoacidopathy","","",""
"ACAD9","HGNC:21497","https://search.clinicalgenome.org/kb/genes/HGNC:21497","acyl-CoA dehydrogenase 9 deficiency","MONDO:0012624","https://search.clinicalgenome.org/kb/conditions/MONDO:0012624","Autosomal recessive inheritance","","","","","definitive evidence (03/27/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fad1866-75ce-470f-984c-e64bb7e11168-2018-03-27T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"ACADL","HGNC:88","https://search.clinicalgenome.org/kb/genes/HGNC:88","long chain acyl-CoA dehydrogenase deficiency","MONDO:0020531","https://search.clinicalgenome.org/kb/conditions/MONDO:0020531","Autosomal recessive inheritance","","","","","disputing (04/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d95637bf-c628-4d23-a0d5-656db55a09a4-2024-04-25T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"ACADM","HGNC:89","https://search.clinicalgenome.org/kb/genes/HGNC:89","medium chain acyl-CoA dehydrogenase deficiency","MONDO:0008721","https://search.clinicalgenome.org/kb/conditions/MONDO:0008721","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:89","Dosage Working Group","definitive evidence (01/23/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb987774-0e5b-4466-924f-6f19fccc6599-2018-01-23T170000.000Z","Fatty Acid Oxidation Disorders","Strong Actionability (08/03/2020) | Strong Actionability (08/03/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1016 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1016"," | "
"ACADS","HGNC:90","https://search.clinicalgenome.org/kb/genes/HGNC:90","short chain acyl-CoA dehydrogenase deficiency","MONDO:0008722","https://search.clinicalgenome.org/kb/conditions/MONDO:0008722","Autosomal recessive inheritance","","","","","definitive evidence (01/23/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6bc94e9-cdf2-4efb-b654-004541efc344-2018-01-23T170000.000Z","Fatty Acid Oxidation Disorders","","",""
"ACADSB","HGNC:91","https://search.clinicalgenome.org/kb/genes/HGNC:91","2-methylbutyryl-CoA dehydrogenase deficiency","MONDO:0012392","https://search.clinicalgenome.org/kb/conditions/MONDO:0012392","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:91","Dosage Working Group","definitive evidence (03/22/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bfa3857-c96c-40ac-b4c1-2cf04fd4eb4f-2019-03-22T160000.000Z","Aminoacidopathy","","",""
"ACADVL","HGNC:92","https://search.clinicalgenome.org/kb/genes/HGNC:92","very long chain acyl-CoA dehydrogenase deficiency","MONDO:0008723","https://search.clinicalgenome.org/kb/conditions/MONDO:0008723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/26/2025)","0 - No Evidence for Triplosensitivity (09/26/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:92","Dosage Working Group","definitive evidence (02/20/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_130ca053-9f40-4fd5-b89c-b9b374694fda-2018-02-20T170000.000Z","Fatty Acid Oxidation Disorders","Limited Actionability (03/08/2025) | Moderate Actionability (03/08/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC126 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC126"," | "
"ACAN","HGNC:319","https://search.clinicalgenome.org/kb/genes/HGNC:319","ACAN-related short stature spectrum","MONDO:1060149","https://search.clinicalgenome.org/kb/conditions/MONDO:1060149","Autosomal dominant inheritance","","","","","definitive evidence (05/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbf745d3-628c-4b90-aaa6-a0e28dd7bae1-2025-05-07T160000.000Z","Skeletal Disorders","","",""
"ACAT1","HGNC:93","https://search.clinicalgenome.org/kb/genes/HGNC:93","beta-ketothiolase deficiency","MONDO:0008760","https://search.clinicalgenome.org/kb/conditions/MONDO:0008760","Autosomal recessive inheritance","","","","","definitive evidence (05/22/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99bcab0a-de59-479d-8fe6-8b76cbce90ee-2018-05-22T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"ACAT2","HGNC:94","https://search.clinicalgenome.org/kb/genes/HGNC:94","acetyl-CoA acetyltransferase-2 deficiency","MONDO:0013548","https://search.clinicalgenome.org/kb/conditions/MONDO:0013548","Mode of inheritance","","","","","no known disease relationship (01/25/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cb46678-6e33-4d34-86ba-fdf59e59fb80-2021-01-25T194853.212Z","Fatty Acid Oxidation Disorders","","",""
"ACBD5","HGNC:23338","https://search.clinicalgenome.org/kb/genes/HGNC:23338","acyl-CoA binding domain containing protein 5 deficiency","MONDO:0100112","https://search.clinicalgenome.org/kb/conditions/MONDO:0100112","Autosomal recessive inheritance","","","","","definitive evidence (06/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ac052f6-de8d-4c14-adf2-bbecb624defd-2024-06-21T160000.000Z","Peroxisomal Disorders","","",""
"ACD","HGNC:25070","https://search.clinicalgenome.org/kb/genes/HGNC:25070","ACD-related short telomere syndrome","MONDO:0100569","https://search.clinicalgenome.org/kb/conditions/MONDO:0100569","Semidominant inheritance","0 - No Evidence for Haploinsufficiency (04/24/2025)","0 - No Evidence for Triplosensitivity (04/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25070","Dosage Working Group","definitive evidence (02/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c29b6517-54ab-414e-a3ab-e5aa006e0d54-2024-02-20T170000.000Z","Interstitial Lung Disease","","",""
"ACE","HGNC:2707","https://search.clinicalgenome.org/kb/genes/HGNC:2707","renal tubular dysgenesis - ACE","MONDO:0700337","https://search.clinicalgenome.org/kb/conditions/MONDO:0700337","Autosomal recessive inheritance","","","","","definitive evidence (12/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14a5efd4-d71f-40b1-91ff-90f7f8d63ec7-2024-12-11T170000.000Z","Prenatal","","",""
"ACO2","HGNC:118","https://search.clinicalgenome.org/kb/genes/HGNC:118","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance | Autosomal dominant inheritance","","","","","definitive evidence (10/19/2023) | strong evidence (10/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5892fec8-dc8b-467b-abba-fb6be142bb7a-2023-10-19T040000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bca6e9c-e167-4862-bf45-3ec787b92f49-2023-10-19T040000.000Z","Mitochondrial Diseases | Mitochondrial Diseases","","",""
"ACO2","HGNC:118","https://search.clinicalgenome.org/kb/genes/HGNC:118","optic atrophy 9","MONDO:0014571","https://search.clinicalgenome.org/kb/conditions/MONDO:0014571","Semidominant inheritance","","","","","definitive evidence (04/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_236ff728-58f0-4f71-8575-8dd8546c8fba-2024-04-05T190000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"ACOX1","HGNC:119","https://search.clinicalgenome.org/kb/genes/HGNC:119","peroxisomal acyl-CoA oxidase deficiency","MONDO:0009919","https://search.clinicalgenome.org/kb/conditions/MONDO:0009919","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/20/2014)","0 - No Evidence for Triplosensitivity (11/20/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:119","Dosage Working Group","definitive evidence (11/04/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96026ae4-050d-4eb5-849c-178c703a556e-2022-11-04T160000.000Z","Peroxisomal Disorders","","",""
"ACOX1","HGNC:119","https://search.clinicalgenome.org/kb/genes/HGNC:119","Mitchell syndrome","MONDO:0030073","https://search.clinicalgenome.org/kb/conditions/MONDO:0030073","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/20/2014)","0 - No Evidence for Triplosensitivity (11/20/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:119","Dosage Working Group","strong evidence (12/29/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2efeef00-0803-472b-8e25-080e4728c018-2022-12-29T170000.000Z","Peroxisomal Disorders","","",""
"ACOX2","HGNC:120","https://search.clinicalgenome.org/kb/genes/HGNC:120","congenital bile acid synthesis defect 6","MONDO:0015015","https://search.clinicalgenome.org/kb/conditions/MONDO:0015015","Autosomal recessive inheritance","","","","","definitive evidence (07/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5627eadb-12f9-4768-915c-3da73c425650-2024-07-25T180000.000Z","General Inborn Errors of Metabolism","","",""
"ACP5","HGNC:124","https://search.clinicalgenome.org/kb/genes/HGNC:124","Spondyloenchondrodysplasia with immune dysregulation","MONDO:0011939","https://search.clinicalgenome.org/kb/conditions/MONDO:0011939","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:124","Dosage Working Group","","","","","",""
"ACSF3","HGNC:27288","https://search.clinicalgenome.org/kb/genes/HGNC:27288","combined malonic and methylmalonic acidemia","MONDO:0013661","https://search.clinicalgenome.org/kb/conditions/MONDO:0013661","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/24/2025)","0 - No Evidence for Triplosensitivity (10/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:27288","Dosage Working Group","definitive evidence (10/09/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b215e20c-7781-49a0-b473-9219cb07e0b9-2020-10-09T160000.000Z","Aminoacidopathy","","",""
"ACSL4","HGNC:3571","https://search.clinicalgenome.org/kb/genes/HGNC:3571","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (06/10/2025)","0 - No Evidence for Triplosensitivity (06/10/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3571","Dosage Working Group","definitive evidence (01/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4da722c-f7fc-4dc4-ad19-1d1b023d488f-2023-01-10T190000.000Z","Intellectual Disability and Autism","","",""
"ACSL4","HGNC:3571","https://search.clinicalgenome.org/kb/genes/HGNC:3571","intellectual disability, X-linked 63","MONDO:0010313","https://search.clinicalgenome.org/kb/conditions/MONDO:0010313","N/A","1 - Little Evidence for Haploinsufficiency (06/10/2025)","0 - No Evidence for Triplosensitivity (06/10/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3571","Dosage Working Group","","","","","",""
"ACTA1","HGNC:129","https://search.clinicalgenome.org/kb/genes/HGNC:129","alpha-actinopathy","MONDO:0100084","https://search.clinicalgenome.org/kb/conditions/MONDO:0100084","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","definitive evidence (02/26/2024) | definitive evidence (02/26/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba47597e-07a0-45e3-a971-f15807e8a1a4-2024-02-26T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_098a7b3a-26ab-4915-8187-f6db682cef4f-2024-02-26T170000.000Z","Congenital Myopathies | Congenital Myopathies","","",""
"ACTA2","HGNC:130","https://search.clinicalgenome.org/kb/genes/HGNC:130","multisystemic smooth muscle dysfunction syndrome","MONDO:0013452","https://search.clinicalgenome.org/kb/conditions/MONDO:0013452","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (09/28/2022)","0 - No Evidence for Triplosensitivity (09/28/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:130","Dosage Working Group","definitive evidence (01/24/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f4fb1fe-4b82-481d-a81d-398eea46acc5-2025-01-24T170000.000Z","Hereditary Cardiovascular Disease","","",""
"ACTA2","HGNC:130","https://search.clinicalgenome.org/kb/genes/HGNC:130","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","N/A","1 - Little Evidence for Haploinsufficiency (09/28/2022)","0 - No Evidence for Triplosensitivity (09/28/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:130","Dosage Working Group","","","","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC134 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC134"," | "
"ACTB","HGNC:132","https://search.clinicalgenome.org/kb/genes/HGNC:132","Baraitser-Winter cerebrofrontofacial syndrome","MONDO:0017579","https://search.clinicalgenome.org/kb/conditions/MONDO:0017579","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (02/08/2022)","0 - No Evidence for Triplosensitivity (02/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:132","Dosage Working Group","definitive evidence (10/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa13dfad-ab93-4521-874a-5ede8f608fe4-2021-10-26T165835.977Z","Brain Malformations","","",""
"ACTB","HGNC:132","https://search.clinicalgenome.org/kb/genes/HGNC:132","ACTB-associated syndromic thrombocytopenia","MONDO:0100433","https://search.clinicalgenome.org/kb/conditions/MONDO:0100433","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (02/08/2022)","0 - No Evidence for Triplosensitivity (02/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:132","Dosage Working Group","moderate evidence (06/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9cee7fd2-09f7-41dc-9742-542917d856b0-2024-06-03T160000.000Z","Hemostasis Thrombosis","","",""
"ACTB","HGNC:132","https://search.clinicalgenome.org/kb/genes/HGNC:132","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","N/A","0 - No Evidence for Haploinsufficiency (02/08/2022)","0 - No Evidence for Triplosensitivity (02/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:132","Dosage Working Group","","","","","",""
"ACTC1","HGNC:143","https://search.clinicalgenome.org/kb/genes/HGNC:143","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (09/10/2024)","0 - No Evidence for Triplosensitivity (09/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143","Dosage Working Group","no known disease relationship (03/15/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_748d4255-ef43-4b42-b9f1-1cdbc50de763-2019-03-15T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"ACTC1","HGNC:143","https://search.clinicalgenome.org/kb/genes/HGNC:143","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (09/10/2024)","0 - No Evidence for Triplosensitivity (09/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143","Dosage Working Group","moderate evidence (04/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e9b4048-3003-4180-b891-fcf10d25a814-2025-04-25T040000.000Z","Dilated Cardiomyopathy","","",""
"ACTC1","HGNC:143","https://search.clinicalgenome.org/kb/genes/HGNC:143","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (09/10/2024)","0 - No Evidence for Triplosensitivity (09/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143","Dosage Working Group","definitive evidence (06/23/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f62793b-0015-46eb-bb51-bddbae25ba0d-2021-06-23T201616.296Z","Hypertrophic Cardiomyopathy","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"ACTC1","HGNC:143","https://search.clinicalgenome.org/kb/genes/HGNC:143","hypertrophic cardiomyopathy 11","MONDO:0012799","https://search.clinicalgenome.org/kb/conditions/MONDO:0012799","N/A","1 - Little Evidence for Haploinsufficiency (09/10/2024)","0 - No Evidence for Triplosensitivity (09/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"ACTC1","HGNC:143","https://search.clinicalgenome.org/kb/genes/HGNC:143","familial hypertrophic cardiomyopathy","MONDO:0024573","https://search.clinicalgenome.org/kb/conditions/MONDO:0024573","N/A","1 - Little Evidence for Haploinsufficiency (09/10/2024)","0 - No Evidence for Triplosensitivity (09/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"ACTC1","HGNC:143","https://search.clinicalgenome.org/kb/genes/HGNC:143","cardiogenetic disease","MONDO:0100547","https://search.clinicalgenome.org/kb/conditions/MONDO:0100547","N/A","1 - Little Evidence for Haploinsufficiency (09/10/2024)","0 - No Evidence for Triplosensitivity (09/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143","Dosage Working Group","","","","","",""
"ACTG1","HGNC:144","https://search.clinicalgenome.org/kb/genes/HGNC:144","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","definitive evidence (01/07/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db9f5d19-5ebc-4a1a-a4c3-79ff27f69a0e-2019-01-07T170000.000Z","Hearing Loss","","",""
"ACTG1","HGNC:144","https://search.clinicalgenome.org/kb/genes/HGNC:144","Baraitser-winter syndrome 2","MONDO:0013812","https://search.clinicalgenome.org/kb/conditions/MONDO:0013812","Autosomal dominant inheritance","","","","","definitive evidence (01/07/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9969a221-1ce9-44c6-8ab7-2ad5f7ccd5ab-2019-01-07T170000.000Z","Hearing Loss","","",""
"ACTG1","HGNC:144","https://search.clinicalgenome.org/kb/genes/HGNC:144","","CGGV:FREETEXT_5710bf1a-49db-4189-b02a-9c51a46e50f1","https://search.clinicalgenome.org/kb/conditions/CGGV:FREETEXT_5710bf1a-49db-4189-b02a-9c51a46e50f1","N/A","","","","","","","","","",""
"ACTL6A","HGNC:24124","https://search.clinicalgenome.org/kb/genes/HGNC:24124","ACTL6A-related BAFopathy","MONDO:0700121","https://search.clinicalgenome.org/kb/conditions/MONDO:0700121","Autosomal dominant inheritance","","","","","moderate evidence (07/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9278e3c0-9174-4aed-8c13-b34618e88825-2023-07-21T160000.000Z","Syndromic Disorders","","",""
"ACTL6B","HGNC:160","https://search.clinicalgenome.org/kb/genes/HGNC:160","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (11/23/2022)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:160","Dosage Working Group","","","","","",""
"ACTN1","HGNC:163","https://search.clinicalgenome.org/kb/genes/HGNC:163","platelet-type bleeding disorder 15","MONDO:0014078","https://search.clinicalgenome.org/kb/conditions/MONDO:0014078","Autosomal dominant inheritance","","","","","definitive evidence (11/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_215f3113-cfb6-44cc-a68b-1eb6539c9fa0-2020-11-25T170000.000Z","Hemostasis Thrombosis","","",""
"ACTN2","HGNC:164","https://search.clinicalgenome.org/kb/genes/HGNC:164","ACTN2-related cardiac and skeletal myopathy","MONDO:0700349","https://search.clinicalgenome.org/kb/conditions/MONDO:0700349","Autosomal dominant inheritance","","","","","definitive evidence (07/23/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6710e329-d391-4355-85a5-02d03f8791a3-2025-07-23T040000.000Z","Hereditary Cardiovascular Disease","","",""
"ACVR1","HGNC:171","https://search.clinicalgenome.org/kb/genes/HGNC:171","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (08/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a34f19aa-a12e-483c-ae09-a0fce770647b-2023-08-14T160000.000Z","Congenital Heart Disease","","",""
"ACVR1","HGNC:171","https://search.clinicalgenome.org/kb/genes/HGNC:171","fibrodysplasia ossificans progressiva","MONDO:0007606","https://search.clinicalgenome.org/kb/conditions/MONDO:0007606","Autosomal dominant inheritance","","","","","definitive evidence (03/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0439e75f-fc1b-4841-8c9a-17f3568ce8a4-2023-03-01T170000.000Z","Skeletal Disorders","","",""
"ACVRL1","HGNC:175","https://search.clinicalgenome.org/kb/genes/HGNC:175","telangiectasia, hereditary hemorrhagic, type 2","MONDO:0010880","https://search.clinicalgenome.org/kb/conditions/MONDO:0010880","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/11/2025)","0 - No Evidence for Triplosensitivity (02/11/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:175","Dosage Working Group","definitive evidence (12/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbbb72c5-84a0-4096-8d49-6df506cfee0e-2022-12-05T170000.000Z","Hemostasis Thrombosis","Moderate Actionability (08/26/2022) | Strong Actionability (08/26/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC107 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC107"," | "
"ACVRL1","HGNC:175","https://search.clinicalgenome.org/kb/genes/HGNC:175","hereditary hemorrhagic telangiectasia","MONDO:0019180","https://search.clinicalgenome.org/kb/conditions/MONDO:0019180","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/11/2025)","0 - No Evidence for Triplosensitivity (02/11/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:175","Dosage Working Group","","","","Moderate Actionability (08/26/2022) | Strong Actionability (08/26/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC107 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC107"," | "
"ACY1","HGNC:177","https://search.clinicalgenome.org/kb/genes/HGNC:177","aminoacylase 1 deficiency","MONDO:0012368","https://search.clinicalgenome.org/kb/conditions/MONDO:0012368","Autosomal recessive inheritance","","","","","definitive evidence (09/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67196825-d32f-4070-9c15-debaa2287b73-2020-09-25T160000.000Z","Aminoacidopathy","","",""
"ADA","HGNC:186","https://search.clinicalgenome.org/kb/genes/HGNC:186","severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency","MONDO:0007064","https://search.clinicalgenome.org/kb/conditions/MONDO:0007064","Autosomal recessive inheritance","","","","","definitive evidence (11/19/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_664ba77c-3db6-47da-941e-316ac819432a-2020-11-19T170000.000Z","SCID-CID","","",""
"ADA2","HGNC:1839","https://search.clinicalgenome.org/kb/genes/HGNC:1839","deficiency of adenosine deaminase 2","MONDO:0100317","https://search.clinicalgenome.org/kb/conditions/MONDO:0100317","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/24/2025)","0 - No Evidence for Triplosensitivity (10/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1839","Dosage Working Group","definitive evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e05f1338-6a58-4991-af3b-6433bd165a9f-2023-05-30T170000.000Z","Antibody Deficiencies GCEP","","",""
"ADAM17","HGNC:195","https://search.clinicalgenome.org/kb/genes/HGNC:195","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (08/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ad3a100-7a22-4065-aaa2-87c64a843486-2023-08-14T160000.000Z","Congenital Heart Disease","","",""
"ADAM9","HGNC:216","https://search.clinicalgenome.org/kb/genes/HGNC:216","ADAM9-related retinopathy","MONDO:0800398","https://search.clinicalgenome.org/kb/conditions/MONDO:0800398","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (12/11/2014)","0 - No Evidence for Triplosensitivity (12/11/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:216","Dosage Working Group","definitive evidence (09/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c648ec73-186d-4680-93ea-29f5fdf91812-2022-09-01T160000.000Z","Retina","","",""
"ADAM9","HGNC:216","https://search.clinicalgenome.org/kb/genes/HGNC:216","cone-rod dystrophy 9","MONDO:0013002","https://search.clinicalgenome.org/kb/conditions/MONDO:0013002","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (12/11/2014)","0 - No Evidence for Triplosensitivity (12/11/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:216","Dosage Working Group","","","","","",""
"ADAMTS13","HGNC:1366","https://search.clinicalgenome.org/kb/genes/HGNC:1366","congenital thrombotic thrombocytopenic purpura","MONDO:0010122","https://search.clinicalgenome.org/kb/conditions/MONDO:0010122","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1366","Dosage Working Group","definitive evidence (03/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6442c328-21be-482d-9ea9-ce694c1a5dd9-2020-03-25T160000.000Z","Hemostasis Thrombosis","","",""
"ADAMTS17","HGNC:17109","https://search.clinicalgenome.org/kb/genes/HGNC:17109","Weill-Marchesani 4 syndrome, recessive","MONDO:0013176","https://search.clinicalgenome.org/kb/conditions/MONDO:0013176","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17109","Dosage Working Group","","","","","",""
"ADAMTS18","HGNC:17110","https://search.clinicalgenome.org/kb/genes/HGNC:17110","microcornea-myopic chorioretinal atrophy","MONDO:0014195","https://search.clinicalgenome.org/kb/conditions/MONDO:0014195","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17110","Dosage Working Group","definitive evidence (03/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95caeabe-f92c-4884-87b4-ed97f15769f3-2022-03-02T212447.170Z","Retina","","",""
"ADAMTS19","HGNC:17111","https://search.clinicalgenome.org/kb/genes/HGNC:17111","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal recessive inheritance","","","","","limited evidence (07/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b850ff44-cec0-4afd-a3d8-0779b336f972-2024-07-08T160000.000Z","Congenital Heart Disease","","",""
"ADAMTS2","HGNC:218","https://search.clinicalgenome.org/kb/genes/HGNC:218","Ehlers-Danlos syndrome, dermatosparaxis type","MONDO:0009161","https://search.clinicalgenome.org/kb/conditions/MONDO:0009161","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:218","Dosage Working Group","","","","","",""
"ADAMTS9","HGNC:13202","https://search.clinicalgenome.org/kb/genes/HGNC:13202","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","limited evidence (05/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a31b47e0-c9a5-4bdd-99d7-2d7f0d2a3bc8-2022-05-11T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"ADAMTSL2","HGNC:14631","https://search.clinicalgenome.org/kb/genes/HGNC:14631","geleophysic dysplasia 1","MONDO:0009269","https://search.clinicalgenome.org/kb/conditions/MONDO:0009269","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14631","Dosage Working Group","","","","","",""
"ADAR","HGNC:225","https://search.clinicalgenome.org/kb/genes/HGNC:225","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (08/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03f538b5-43af-4699-9ddb-264077de21c9-2020-08-27T164642.352Z","Mitochondrial Diseases","","",""
"ADAR","HGNC:225","https://search.clinicalgenome.org/kb/genes/HGNC:225","ADAR-related type 1 interferonopathy","MONDO:0700261","https://search.clinicalgenome.org/kb/conditions/MONDO:0700261","Autosomal recessive inheritance | Autosomal dominant inheritance","","","","","definitive evidence (10/31/2024) | definitive evidence (10/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9cf90ec8-f2fd-4b93-89ca-d20e628a6109-2024-10-31T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6e83262-29db-4535-a41b-8cb8549009bf-2024-10-21T160000.000Z","Leukodystrophy and Leukoencephalopathy | Leukodystrophy and Leukoencephalopathy","","",""
"ADAT3","HGNC:25151","https://search.clinicalgenome.org/kb/genes/HGNC:25151","intellectual disability-strabismus syndrome","MONDO:0014119","https://search.clinicalgenome.org/kb/conditions/MONDO:0014119","Autosomal recessive inheritance","","","","","moderate evidence (09/15/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a9357c4-670e-498d-8e50-e58b08cff6cc-2025-09-15T220000.000Z","Intellectual Disability and Autism","","",""
"ADCY1","HGNC:232","https://search.clinicalgenome.org/kb/genes/HGNC:232","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","limited evidence (10/31/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8dc7be09-eeed-4bd3-8a00-ab4e89af3bae-2024-10-31T160000.000Z","Hearing Loss","","",""
"ADCY5","HGNC:236","https://search.clinicalgenome.org/kb/genes/HGNC:236","dyskinesia with orofacial involvement","MONDO:0031115","https://search.clinicalgenome.org/kb/conditions/MONDO:0031115","Semidominant inheritance","","","","","definitive evidence (09/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec58d44e-b258-4ca1-b678-102a9a90678b-2024-09-05T160000.000Z","Cerebral Palsy","","",""
"ADD3","HGNC:245","https://search.clinicalgenome.org/kb/genes/HGNC:245","complex neurodevelopmental disorder with motor features","MONDO:0100516","https://search.clinicalgenome.org/kb/conditions/MONDO:0100516","Autosomal recessive inheritance","","","","","moderate evidence (08/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a858435-3e50-406f-8ec3-9f4e40b1c392-2022-08-15T180000.000Z","Cerebral Palsy","","",""
"ADGRG1","HGNC:4512","https://search.clinicalgenome.org/kb/genes/HGNC:4512","bilateral frontoparietal polymicrogyria","MONDO:0011738","https://search.clinicalgenome.org/kb/conditions/MONDO:0011738","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/24/2025)","0 - No Evidence for Triplosensitivity (10/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4512","Dosage Working Group","definitive evidence (10/24/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00a967bf-7f3a-4305-8210-7787f257a836-2023-10-24T170000.000Z","Brain Malformations","","",""
"ADGRV1","HGNC:17416","https://search.clinicalgenome.org/kb/genes/HGNC:17416","Usher syndrome type 2","MONDO:0016484","https://search.clinicalgenome.org/kb/conditions/MONDO:0016484","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/23/2021)","0 - No Evidence for Triplosensitivity (08/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17416","Dosage Working Group","definitive evidence (02/15/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_992d2cd7-5305-4278-9601-3e59ac1a8770-2017-02-15T170000.000Z","Hearing Loss","","",""
"ADGRV1","HGNC:17416","https://search.clinicalgenome.org/kb/genes/HGNC:17416","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/23/2021)","0 - No Evidence for Triplosensitivity (08/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17416","Dosage Working Group","disputing (03/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f3dc96a-8fd3-4d30-98fd-1b1cf264e818-2019-03-19T160000.000Z","Hearing Loss","","",""
"ADK","HGNC:257","https://search.clinicalgenome.org/kb/genes/HGNC:257","adenosine kinase deficiency","MONDO:0100255","https://search.clinicalgenome.org/kb/conditions/MONDO:0100255","Autosomal recessive inheritance","","","","","definitive evidence (04/08/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2319ca2-652d-411e-ab6d-5b7fb7e185ea-2021-04-08T160000.000Z","Aminoacidopathy","","",""
"ADNP","HGNC:15766","https://search.clinicalgenome.org/kb/genes/HGNC:15766","ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder","MONDO:0014379","https://search.clinicalgenome.org/kb/conditions/MONDO:0014379","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/22/2017)","0 - No Evidence for Triplosensitivity (11/22/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15766","Dosage Working Group","definitive evidence (01/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_837200e1-ed55-415b-bd9e-6649e4abab1d-2020-01-14T230000.000Z","Intellectual Disability and Autism","","",""
"ADRA2B","HGNC:282","https://search.clinicalgenome.org/kb/genes/HGNC:282","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","","","","","refuting evidence (06/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef3edc91-d4fd-4704-895e-c08f45f88fe7-2024-06-18T160000.000Z","Epilepsy","","",""
"ADSL","HGNC:291","https://search.clinicalgenome.org/kb/genes/HGNC:291","adenylosuccinate lyase deficiency","MONDO:0007068","https://search.clinicalgenome.org/kb/conditions/MONDO:0007068","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/06/2015)","0 - No Evidence for Triplosensitivity (11/06/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:291","Dosage Working Group","definitive evidence (09/06/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d282f565-84e4-4a47-9acc-77ee31bbe9f6-2020-09-06T220000.000Z","Intellectual Disability and Autism","","",""
"AFF2","HGNC:3776","https://search.clinicalgenome.org/kb/genes/HGNC:3776","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/08/2020)","0 - No Evidence for Triplosensitivity (12/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3776","Dosage Working Group","definitive evidence (08/11/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab4216e3-61b7-4542-ad3a-8788a7ef8b63-2025-08-11T100000.000Z","Intellectual Disability and Autism","","",""
"AFF2","HGNC:3776","https://search.clinicalgenome.org/kb/genes/HGNC:3776","FRAXE intellectual disability","MONDO:0010659","https://search.clinicalgenome.org/kb/conditions/MONDO:0010659","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/08/2020)","0 - No Evidence for Triplosensitivity (12/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3776","Dosage Working Group","","","","","",""
"AFG2A","HGNC:18119","https://search.clinicalgenome.org/kb/genes/HGNC:18119","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","Autosomal recessive inheritance","","","","","definitive evidence (07/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3ae4261-8438-496b-8295-a9fdb5785436-2024-07-23T160000.000Z","Syndromic Disorders","","",""
"AFG2B","HGNC:28762","https://search.clinicalgenome.org/kb/genes/HGNC:28762","hearing loss, autosomal recessive 119","MONDO:0030480","https://search.clinicalgenome.org/kb/conditions/MONDO:0030480","Autosomal recessive inheritance","","","","","limited evidence (02/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e11de007-664f-4359-830e-fcb94ca09474-2024-02-21T170000.000Z","Hearing Loss","","",""
"AFG3L2","HGNC:315","https://search.clinicalgenome.org/kb/genes/HGNC:315","optic atrophy 12","MONDO:0033549","https://search.clinicalgenome.org/kb/conditions/MONDO:0033549","Semidominant inheritance","","","","","definitive evidence (05/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_837efbf5-6fac-4b1c-9f72-59527b5dd6fd-2024-05-16T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"AGA","HGNC:318","https://search.clinicalgenome.org/kb/genes/HGNC:318","aspartylglucosaminuria","MONDO:0008830","https://search.clinicalgenome.org/kb/conditions/MONDO:0008830","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:318","Dosage Working Group","definitive evidence (09/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f315b4a-1a3b-4deb-90fd-2b73f732a4ba-2022-09-02T160000.000Z","Lysosomal Diseases GCEP","","",""
"AGBL5","HGNC:26147","https://search.clinicalgenome.org/kb/genes/HGNC:26147","inherited retinal dystrophy","MONDO:0019118","https://search.clinicalgenome.org/kb/conditions/MONDO:0019118","Autosomal recessive inheritance","","","","","definitive evidence (05/01/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cb9b01dc-10a2-4307-8b51-e956f71c4b65-2025-05-01T160000.000Z","Retina","","",""
"AGK","HGNC:21869","https://search.clinicalgenome.org/kb/genes/HGNC:21869","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/26/2025)","0 - No Evidence for Triplosensitivity (09/26/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21869","Dosage Working Group","definitive evidence (02/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f2f03ad-0f05-4e7d-b76e-f73b6e72251a-2023-02-06T050000.000Z","Mitochondrial Diseases","","",""
"AGL","HGNC:321","https://search.clinicalgenome.org/kb/genes/HGNC:321","glycogen storage disease III","MONDO:0009291","https://search.clinicalgenome.org/kb/conditions/MONDO:0009291","Autosomal recessive inheritance","","","","","definitive evidence (02/24/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7b762bc-a12f-4194-91b9-764784248cc7-2023-02-24T170000.000Z","General Inborn Errors of Metabolism","","",""
"AGO2","HGNC:3263","https://search.clinicalgenome.org/kb/genes/HGNC:3263","Lessel-Kreienkamp syndrome","MONDO:0030897","https://search.clinicalgenome.org/kb/conditions/MONDO:0030897","Autosomal dominant inheritance","","","","","definitive evidence (09/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec86c06a-f5a3-448d-be53-277bc91d12de-2023-09-15T160000.000Z","Syndromic Disorders","","",""
"AGPAT2","HGNC:325","https://search.clinicalgenome.org/kb/genes/HGNC:325","lipodystrophy","MONDO:0006573","https://search.clinicalgenome.org/kb/conditions/MONDO:0006573","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:325","Dosage Working Group","definitive evidence (11/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dfa30e7e-e750-4b65-bcd5-9421cc34fc43-2024-11-13T170000.000Z","Monogenic Diabetes","","",""
"AGPAT2","HGNC:325","https://search.clinicalgenome.org/kb/genes/HGNC:325","congenital generalized lipodystrophy type 1","MONDO:0012071","https://search.clinicalgenome.org/kb/conditions/MONDO:0012071","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:325","Dosage Working Group","","","","","",""
"AGPS","HGNC:327","https://search.clinicalgenome.org/kb/genes/HGNC:327","alkylglycerone-phosphate synthase deficiency","MONDO:0100274","https://search.clinicalgenome.org/kb/conditions/MONDO:0100274","Autosomal recessive inheritance","","","","","definitive evidence (04/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aba640e2-c95d-414b-8c72-d22769e4366a-2022-04-22T160000.000Z","Peroxisomal Disorders","","",""
"AGRN","HGNC:329","https://search.clinicalgenome.org/kb/genes/HGNC:329","congenital myasthenic syndrome 8","MONDO:0014052","https://search.clinicalgenome.org/kb/conditions/MONDO:0014052","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:329","Dosage Working Group","definitive evidence (08/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70c80ce8-1780-4c6e-a8ff-c33b5cbf5d6a-2025-08-25T160000.000Z","Congenital Myopathies","","",""
"AGT","HGNC:333","https://search.clinicalgenome.org/kb/genes/HGNC:333","renal tubular dysgenesis of genetic origin","MONDO:0009970","https://search.clinicalgenome.org/kb/conditions/MONDO:0009970","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (11/13/2014)","0 - No Evidence for Triplosensitivity (11/13/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:333","Dosage Working Group","","","","","",""
"AGTPBP1","HGNC:17258","https://search.clinicalgenome.org/kb/genes/HGNC:17258","neurodegeneration, childhood-onset, with cerebellar atrophy","MONDO:0032650","https://search.clinicalgenome.org/kb/conditions/MONDO:0032650","Autosomal recessive inheritance","","","","","definitive evidence (07/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e11a817-7b96-4205-a9d8-6aab86a735bc-2025-07-21T160000.000Z","Cerebral Palsy","","",""
"AGTR2","HGNC:338","https://search.clinicalgenome.org/kb/genes/HGNC:338","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","0 - No Evidence for Haploinsufficiency (05/10/2012)","0 - No Evidence for Triplosensitivity (05/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:338","Dosage Working Group","disputing (06/01/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d7cfa2a0-e6a7-49b8-a773-b32a1dfbcd57-2020-06-01T220000.000Z","Intellectual Disability and Autism","","",""
"AGTR2","HGNC:338","https://search.clinicalgenome.org/kb/genes/HGNC:338","intellectual disability, X-linked 88","MONDO:0010454","https://search.clinicalgenome.org/kb/conditions/MONDO:0010454","N/A","0 - No Evidence for Haploinsufficiency (05/10/2012)","0 - No Evidence for Triplosensitivity (05/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:338","Dosage Working Group","","","","","",""
"AGXT","HGNC:341","https://search.clinicalgenome.org/kb/genes/HGNC:341","alanine glyoxylate aminotransferase deficiency","MONDO:0100278","https://search.clinicalgenome.org/kb/conditions/MONDO:0100278","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:341","Dosage Working Group","definitive evidence (02/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8460f17d-4d94-4a0c-ac46-41c86ce32e83-2020-02-07T170000.000Z","Peroxisomal Disorders","","",""
"AGXT","HGNC:341","https://search.clinicalgenome.org/kb/genes/HGNC:341","primary hyperoxaluria type 1","MONDO:0009823","https://search.clinicalgenome.org/kb/conditions/MONDO:0009823","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:341","Dosage Working Group","","","","","",""
"AHCY","HGNC:343","https://search.clinicalgenome.org/kb/genes/HGNC:343","hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase","MONDO:0013404","https://search.clinicalgenome.org/kb/conditions/MONDO:0013404","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/08/2016)","0 - No Evidence for Triplosensitivity (06/08/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:343","Dosage Working Group","definitive evidence (12/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9b3a56b-b188-44d1-9983-a059895c0ba1-2024-12-13T170000.000Z","Aminoacidopathy","","",""
"AHDC1","HGNC:25230","https://search.clinicalgenome.org/kb/genes/HGNC:25230","AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome","MONDO:0014358","https://search.clinicalgenome.org/kb/conditions/MONDO:0014358","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/28/2018)","0 - No Evidence for Triplosensitivity (02/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25230","Dosage Working Group","definitive evidence (11/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59a6c010-95ac-4813-9cf4-5ff60fa5c7e9-2021-11-16T170000.000Z","Intellectual Disability and Autism","","",""
"AHI1","HGNC:21575","https://search.clinicalgenome.org/kb/genes/HGNC:21575","Joubert syndrome 3","MONDO:0012078","https://search.clinicalgenome.org/kb/conditions/MONDO:0012078","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/26/2025)","0 - No Evidence for Triplosensitivity (09/26/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21575","Dosage Working Group","definitive evidence (10/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0d8d22f-cea6-4f4f-bc71-e85303dccac1-2021-10-26T143345.589Z","Brain Malformations","","",""
"AICDA","HGNC:13203","https://search.clinicalgenome.org/kb/genes/HGNC:13203","hyper-IgM syndrome type 2","MONDO:0011528","https://search.clinicalgenome.org/kb/conditions/MONDO:0011528","Autosomal recessive inheritance | Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13203","Dosage Working Group","definitive evidence (08/28/2024) | definitive evidence (08/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b34c451d-03a1-42dd-a439-599428b0eb38-2024-08-28T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dc16b40a-e78d-432a-88e8-f1ee6c0735f3-2024-08-28T170000.000Z","Antibody Deficiencies GCEP | Antibody Deficiencies GCEP","","",""
"AIFM1","HGNC:8768","https://search.clinicalgenome.org/kb/genes/HGNC:8768","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","X-linked inheritance","0 - No Evidence for Haploinsufficiency (04/23/2025)","0 - No Evidence for Triplosensitivity (04/23/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8768","Dosage Working Group","moderate evidence (06/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e917f93b-01ef-42e3-bf8d-b50a91f83f9c-2021-06-14T135732.582Z","Mitochondrial Diseases","","",""
"AIFM1","HGNC:8768","https://search.clinicalgenome.org/kb/genes/HGNC:8768","X-linked hereditary sensory and autonomic neuropathy with hearing loss","MONDO:0010378","https://search.clinicalgenome.org/kb/conditions/MONDO:0010378","N/A","0 - No Evidence for Haploinsufficiency (04/23/2025)","0 - No Evidence for Triplosensitivity (04/23/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8768","Dosage Working Group","","","","","",""
"AIMP1","HGNC:10648","https://search.clinicalgenome.org/kb/genes/HGNC:10648","hypomyelinating leukodystrophy 3","MONDO:0009843","https://search.clinicalgenome.org/kb/conditions/MONDO:0009843","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10648","Dosage Working Group","definitive evidence (12/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52296001-edce-4ae5-be19-d30319179f7d-2024-12-18T170000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"AIMP2","HGNC:20609","https://search.clinicalgenome.org/kb/genes/HGNC:20609","leukodystrophy, hypomyelinating, 17","MONDO:0054817","https://search.clinicalgenome.org/kb/conditions/MONDO:0054817","Autosomal recessive inheritance","","","","","definitive evidence (09/03/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba6f8aa3-9aa9-4755-8dec-bb5c69005bbe-2025-09-03T160000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"AIPL1","HGNC:359","https://search.clinicalgenome.org/kb/genes/HGNC:359","AIPL1-related retinopathy","MONDO:0100438","https://search.clinicalgenome.org/kb/conditions/MONDO:0100438","Autosomal recessive inheritance","","","","","definitive evidence (02/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_594ca712-dbb5-408b-8aba-68dbfaf7f778-2023-02-02T170000.000Z","Retina","","",""
"AIRE","HGNC:360","https://search.clinicalgenome.org/kb/genes/HGNC:360","autoimmune polyendocrine syndrome type 1","MONDO:0009411","https://search.clinicalgenome.org/kb/conditions/MONDO:0009411","Autosomal recessive inheritance","","","","","definitive evidence (11/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8a4a9cc-050b-46dc-b24a-af6a53517274-2024-11-07T170000.000Z","Monogenic Diabetes","","",""
"AK2","HGNC:362","https://search.clinicalgenome.org/kb/genes/HGNC:362","reticular dysgenesis","MONDO:0009973","https://search.clinicalgenome.org/kb/conditions/MONDO:0009973","Autosomal recessive inheritance","","","","","definitive evidence (05/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aba98528-8032-4dd4-bd1d-5381b102323c-2021-05-20T150257.066Z","SCID-CID","","",""
"AK7","HGNC:20091","https://search.clinicalgenome.org/kb/genes/HGNC:20091","primary ciliary dyskinesia","MONDO:0016575","https://search.clinicalgenome.org/kb/conditions/MONDO:0016575","Autosomal recessive inheritance","","","","","disputing (03/09/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d34669e-fef4-49fb-97af-be7b5c6bea2d-2023-03-09T170000.000Z","Motile Ciliopathy GCEP","","",""
"AK7","HGNC:20091","https://search.clinicalgenome.org/kb/genes/HGNC:20091","spermatogenic failure 27","MONDO:0054731","https://search.clinicalgenome.org/kb/conditions/MONDO:0054731","Autosomal recessive inheritance","","","","","limited evidence (03/09/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54a1d538-0afb-47b9-a7b2-e1f8b0afbcc8-2023-03-09T170000.000Z","Motile Ciliopathy GCEP","","",""
"AKAP9","HGNC:379","https://search.clinicalgenome.org/kb/genes/HGNC:379","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","","","","","disputing (12/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_786eac72-8014-4fdf-b279-10a5faaa09b8-2020-12-15T002607.349Z","Long QT Syndrome","","",""
"AKR1D1","HGNC:388","https://search.clinicalgenome.org/kb/genes/HGNC:388","congenital bile acid synthesis defect 2","MONDO:0009339","https://search.clinicalgenome.org/kb/conditions/MONDO:0009339","Autosomal recessive inheritance","","","","","definitive evidence (09/27/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_236a7baf-2425-4882-a6de-130dfb5117ac-2024-09-27T160000.000Z","General Inborn Errors of Metabolism","","",""
"AKT1","HGNC:391","https://search.clinicalgenome.org/kb/genes/HGNC:391","Cowden syndrome 6","MONDO:0014048","https://search.clinicalgenome.org/kb/conditions/MONDO:0014048","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (01/25/2022)","0 - No Evidence for Triplosensitivity (01/25/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:391","Dosage Working Group","limited evidence (11/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1333bd6d-332b-4c75-8811-cde8efce2001-2024-11-12T170000.000Z","Childhood, Adolescent and Young Adult Cancer Predisposition","","",""
"AKT3","HGNC:393","https://search.clinicalgenome.org/kb/genes/HGNC:393","overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes","MONDO:0100283","https://search.clinicalgenome.org/kb/conditions/MONDO:0100283","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (05/09/2023)","0 - No Evidence for Triplosensitivity (05/09/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:393","Dosage Working Group","definitive evidence (07/29/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52b1df18-387f-4c38-a655-682e4d2eb378-2021-07-29T213439.431Z","Brain Malformations","","",""
"AKT3","HGNC:393","https://search.clinicalgenome.org/kb/genes/HGNC:393","microcephaly","MONDO:0001149","https://search.clinicalgenome.org/kb/conditions/MONDO:0001149","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (05/09/2023)","0 - No Evidence for Triplosensitivity (05/09/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:393","Dosage Working Group","limited evidence (10/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e3b524c-5d27-43d6-a0db-4f8f7cf1f872-2021-10-26T150030.155Z","Brain Malformations","","",""
"ALAD","HGNC:395","https://search.clinicalgenome.org/kb/genes/HGNC:395","porphyria due to ALA dehydratase deficiency","MONDO:0013000","https://search.clinicalgenome.org/kb/conditions/MONDO:0013000","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:395","Dosage Working Group","moderate evidence (01/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ac683af-ca8d-46ab-8641-66ab9b537d16-2025-01-14T200000.000Z","General Inborn Errors of Metabolism","","",""
"ALAS2","HGNC:397","https://search.clinicalgenome.org/kb/genes/HGNC:397","X-linked erythropoietic protoporphyria","MONDO:0010420","https://search.clinicalgenome.org/kb/conditions/MONDO:0010420","X-linked inheritance","","","","","definitive evidence (03/27/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61e658f9-fdc9-4b3c-8788-80eb1ad83b0b-2022-03-27T181700.091Z","General Inborn Errors of Metabolism","","",""
"ALB","HGNC:399","https://search.clinicalgenome.org/kb/genes/HGNC:399","hyperthyroxinemia, familial dysalbuminemic","MONDO:0014448","https://search.clinicalgenome.org/kb/conditions/MONDO:0014448","Autosomal dominant inheritance","","","","","moderate evidence (05/09/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01c39e59-0831-4bc0-a3bb-603d92d81059-2025-05-09T040000.000Z","General Inborn Errors of Metabolism","","",""
"ALB","HGNC:399","https://search.clinicalgenome.org/kb/genes/HGNC:399","congenital analbuminemia","MONDO:0014449","https://search.clinicalgenome.org/kb/conditions/MONDO:0014449","Autosomal recessive inheritance","","","","","definitive evidence (05/09/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5c453ff-8474-463a-916e-45ccb14e2b39-2025-05-09T040000.000Z","General Inborn Errors of Metabolism","","",""
"ALDH18A1","HGNC:9722","https://search.clinicalgenome.org/kb/genes/HGNC:9722","P5CS deficiency","MONDO:0100126","https://search.clinicalgenome.org/kb/conditions/MONDO:0100126","Semidominant inheritance","","","","","definitive evidence (05/18/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7bfbe962-beb3-4553-9909-a83a3aac2d55-2021-05-18T211134.377Z","Aminoacidopathy","","",""
"ALDH1A3","HGNC:409","https://search.clinicalgenome.org/kb/genes/HGNC:409","isolated microphthalmia 8","MONDO:0014050","https://search.clinicalgenome.org/kb/conditions/MONDO:0014050","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:409","Dosage Working Group","","","","","",""
"ALDH3A2","HGNC:403","https://search.clinicalgenome.org/kb/genes/HGNC:403","Sjogren-Larsson syndrome","MONDO:0010031","https://search.clinicalgenome.org/kb/conditions/MONDO:0010031","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:403","Dosage Working Group","","","","","",""
"ALDH4A1","HGNC:406","https://search.clinicalgenome.org/kb/genes/HGNC:406","hyperprolinemia type 2","MONDO:0009401","https://search.clinicalgenome.org/kb/conditions/MONDO:0009401","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/09/2015)","0 - No Evidence for Triplosensitivity (04/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:406","Dosage Working Group","definitive evidence (10/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5edc3f72-31e0-47f8-bcec-e3e5b81c97ae-2020-10-23T171643.432Z","Aminoacidopathy","","",""
"ALDH5A1","HGNC:408","https://search.clinicalgenome.org/kb/genes/HGNC:408","succinic semialdehyde dehydrogenase deficiency","MONDO:0010083","https://search.clinicalgenome.org/kb/conditions/MONDO:0010083","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:408","Dosage Working Group","definitive evidence (04/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3e57466-df2f-4045-b374-010dbd334bfc-2021-04-27T160000.000Z","Intellectual Disability and Autism","","",""
"ALDH6A1","HGNC:7179","https://search.clinicalgenome.org/kb/genes/HGNC:7179","methylmalonate semialdehyde dehydrogenase deficiency","MONDO:0013579","https://search.clinicalgenome.org/kb/conditions/MONDO:0013579","Autosomal recessive inheritance","","","","","limited evidence (12/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57ca1521-9336-4769-bc55-240089dab917-2022-12-12T170000.000Z","Aminoacidopathy","","",""
"ALDH7A1","HGNC:877","https://search.clinicalgenome.org/kb/genes/HGNC:877","pyridoxine-dependent epilepsy","MONDO:0009945","https://search.clinicalgenome.org/kb/conditions/MONDO:0009945","Autosomal recessive inheritance","","","","","definitive evidence (07/26/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a982307-d8bd-43d1-b356-ef7ee6f32045-2019-07-26T160000.000Z","Aminoacidopathy","","",""
"ALDH7A1","HGNC:877","https://search.clinicalgenome.org/kb/genes/HGNC:877","pyridoxine-dependent epilepsy caused by ALDH7A1 mutant","MONDO:0020741","https://search.clinicalgenome.org/kb/conditions/MONDO:0020741","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (12/17/2018) | Strong Actionability (05/29/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1002 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1002"," | "
"ALDOA","HGNC:414","https://search.clinicalgenome.org/kb/genes/HGNC:414","glycogen storage disease due to aldolase A deficiency","MONDO:0012747","https://search.clinicalgenome.org/kb/conditions/MONDO:0012747","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:414","Dosage Working Group","","","","","",""
"ALDOB","HGNC:417","https://search.clinicalgenome.org/kb/genes/HGNC:417","hereditary fructose intolerance","MONDO:0009249","https://search.clinicalgenome.org/kb/conditions/MONDO:0009249","Autosomal recessive inheritance","","","","","definitive evidence (09/04/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9997dba9-812f-4480-98d8-d0b3a050dbc7-2025-09-04T170000.000Z","Congenital Disorders of Glycosylation","Strong Actionability (04/13/2023) | Limited Actionability (04/13/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC008 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC008"," | "
"ALG1","HGNC:18294","https://search.clinicalgenome.org/kb/genes/HGNC:18294","ALG1-congenital disorder of glycosylation","MONDO:0012052","https://search.clinicalgenome.org/kb/conditions/MONDO:0012052","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18294","Dosage Working Group","definitive evidence (08/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98d42afb-c5ce-4518-83ce-aab777f202e6-2024-08-07T190000.000Z","Intellectual Disability and Autism","","",""
"ALG10","HGNC:23162","https://search.clinicalgenome.org/kb/genes/HGNC:23162","congenital disorder of glycosylation","MONDO:0015286","https://search.clinicalgenome.org/kb/conditions/MONDO:0015286","Autosomal recessive inheritance","","","","","limited evidence (04/03/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_477a729b-ac93-4873-8c3e-ba95d1080381-2025-04-03T170000.000Z","Congenital Disorders of Glycosylation","","",""
"ALG11","HGNC:32456","https://search.clinicalgenome.org/kb/genes/HGNC:32456","ALG11-congenital disorder of glycosylation","MONDO:0013349","https://search.clinicalgenome.org/kb/conditions/MONDO:0013349","Autosomal recessive inheritance","","","","","moderate evidence (06/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a818528-da84-4204-baf0-88bb0ae5696e-2023-06-21T160000.000Z","Congenital Disorders of Glycosylation","","",""
"ALG12","HGNC:19358","https://search.clinicalgenome.org/kb/genes/HGNC:19358","ALG12-congenital disorder of glycosylation","MONDO:0011783","https://search.clinicalgenome.org/kb/conditions/MONDO:0011783","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19358","Dosage Working Group","definitive evidence (02/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21631e85-8133-4703-a77c-c046effb6e56-2023-02-15T200000.000Z","Intellectual Disability and Autism","","",""
"ALG13","HGNC:30881","https://search.clinicalgenome.org/kb/genes/HGNC:30881","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (04/23/2025)","0 - No Evidence for Triplosensitivity (04/23/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30881","Dosage Working Group","definitive evidence (04/19/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f14dd634-ec5c-48cc-a375-e3cfd0c6e832-2018-04-19T160000.000Z","Epilepsy","","",""
"ALG14","HGNC:28287","https://search.clinicalgenome.org/kb/genes/HGNC:28287","congenital disorder of glycosylation","MONDO:0015286","https://search.clinicalgenome.org/kb/conditions/MONDO:0015286","Autosomal recessive inheritance","","","","","limited evidence (02/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_809c40c4-1800-42ef-b56f-95a2c61f44ce-2024-02-21T170000.000Z","Congenital Disorders of Glycosylation","","",""
"ALG2","HGNC:23159","https://search.clinicalgenome.org/kb/genes/HGNC:23159","ALG2-congenital disorder of glycosylation","MONDO:0011933","https://search.clinicalgenome.org/kb/conditions/MONDO:0011933","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23159","Dosage Working Group","strong evidence (11/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7cb8bd0-58b2-4644-a041-76f42f564fbc-2023-11-15T170000.000Z","Congenital Disorders of Glycosylation","","",""
"ALG2","HGNC:23159","https://search.clinicalgenome.org/kb/genes/HGNC:23159","congenital myasthenic syndrome 14","MONDO:0014543","https://search.clinicalgenome.org/kb/conditions/MONDO:0014543","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23159","Dosage Working Group","","","","","",""
"ALG3","HGNC:23056","https://search.clinicalgenome.org/kb/genes/HGNC:23056","ALG3-congenital disorder of glycosylation","MONDO:0010998","https://search.clinicalgenome.org/kb/conditions/MONDO:0010998","Autosomal recessive inheritance","","","","","definitive evidence (12/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1512f6a2-f64c-49d6-ab26-44cdaeef97ee-2022-12-06T070000.000Z","Intellectual Disability and Autism","","",""
"ALG5","HGNC:20266","https://search.clinicalgenome.org/kb/genes/HGNC:20266","autosomal dominant polycystic kidney disease","MONDO:0004691","https://search.clinicalgenome.org/kb/conditions/MONDO:0004691","Autosomal dominant inheritance","","","","","moderate evidence (03/22/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1883b1e7-0fb2-4ad5-8ed3-515bf65dc11e-2023-03-22T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"ALG6","HGNC:23157","https://search.clinicalgenome.org/kb/genes/HGNC:23157","ALG6-congenital disorder of glycosylation 1C","MONDO:0011291","https://search.clinicalgenome.org/kb/conditions/MONDO:0011291","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23157","Dosage Working Group","definitive evidence (11/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a243ba1-c323-4fde-a7d2-74892c6ab367-2022-11-11T190000.000Z","Intellectual Disability and Autism","","",""
"ALG6","HGNC:23157","https://search.clinicalgenome.org/kb/genes/HGNC:23157","cystic kidney disease","MONDO:0002473","https://search.clinicalgenome.org/kb/conditions/MONDO:0002473","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23157","Dosage Working Group","limited evidence (04/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4d62da9-8878-494e-b36b-7025fc31a428-2024-04-29T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"ALG8","HGNC:23161","https://search.clinicalgenome.org/kb/genes/HGNC:23161","autosomal dominant polycystic kidney disease","MONDO:0004691","https://search.clinicalgenome.org/kb/conditions/MONDO:0004691","Autosomal dominant inheritance","","","","","definitive evidence (03/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13259bf6-e954-4159-b247-c9685638e537-2025-03-10T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"ALG9","HGNC:15672","https://search.clinicalgenome.org/kb/genes/HGNC:15672","ALG9-associated autosomal dominant polycystic kidney disease","MONDO:0700000","https://search.clinicalgenome.org/kb/conditions/MONDO:0700000","Autosomal dominant inheritance","","","","","definitive evidence (09/11/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38d817af-0a28-4453-a00f-ffccadbd9936-2023-09-11T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"ALK","HGNC:427","https://search.clinicalgenome.org/kb/genes/HGNC:427","neuroblastoma, susceptibility to, 3","MONDO:0013083","https://search.clinicalgenome.org/kb/conditions/MONDO:0013083","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (06/23/2025)","0 - No Evidence for Triplosensitivity (06/23/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:427","Dosage Working Group","definitive evidence (12/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba9f692d-9b6d-4d46-8bfa-009ec20ae538-2022-12-30T180000.000Z","Hereditary Cancer","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/19/2022) | Limited Actionability (08/13/2024)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1057 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1057"," | "
"ALMS1","HGNC:428","https://search.clinicalgenome.org/kb/genes/HGNC:428","Alstrom syndrome","MONDO:0008763","https://search.clinicalgenome.org/kb/conditions/MONDO:0008763","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:428","Dosage Working Group","definitive evidence (02/10/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_6238","Hearing Loss","","",""
"ALPK3","HGNC:17574","https://search.clinicalgenome.org/kb/genes/HGNC:17574","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal recessive inheritance | Autosomal dominant inheritance","","","","","definitive evidence (02/09/2022) | strong evidence (01/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6312d79f-df12-4ec6-8ce6-0f38f19e617d-2022-02-09T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ace85164-0b70-46a2-ac6b-253088f4514d-2025-01-16T010000.000Z","Hereditary Cardiovascular Disease | Hereditary Cardiovascular Disease","","",""
"ALPL","HGNC:438","https://search.clinicalgenome.org/kb/genes/HGNC:438","ALPL-related autosomal recessive hypophosphatasia","MONDO:0100609","https://search.clinicalgenome.org/kb/conditions/MONDO:0100609","Autosomal recessive inheritance","","","","","definitive evidence (01/19/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_897ed4ed-89b5-4e4d-8580-db5721ed6696-2021-01-19T050000.000Z","Skeletal Disorders","","",""
"ALPL","HGNC:438","https://search.clinicalgenome.org/kb/genes/HGNC:438","ALPL-related autosomal dominant hypophosphatasia","MONDO:0100608","https://search.clinicalgenome.org/kb/conditions/MONDO:0100608","Autosomal dominant inheritance","","","","","definitive evidence (05/19/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_417cf2e3-52ab-4a2f-baf0-eb1baae622f8-2021-05-19T160000.000Z","Skeletal Disorders","","",""
"ALPL","HGNC:438","https://search.clinicalgenome.org/kb/genes/HGNC:438","odontohypophosphatasia","MONDO:0016607","https://search.clinicalgenome.org/kb/conditions/MONDO:0016607","N/A","","","","","","","","Moderate Actionability (01/09/2025) | Moderate Actionability (01/09/2025)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC004 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC004"," | "
"ALPL","HGNC:438","https://search.clinicalgenome.org/kb/genes/HGNC:438","hypophosphatasia","MONDO:0018570","https://search.clinicalgenome.org/kb/conditions/MONDO:0018570","N/A","","","","","","","","Moderate Actionability (01/09/2025) | Moderate Actionability (01/09/2025)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC004 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC004"," | "
"ALPL","HGNC:438","https://search.clinicalgenome.org/kb/genes/HGNC:438","mild hypophosphatasia","MONDO:0600011","https://search.clinicalgenome.org/kb/conditions/MONDO:0600011","N/A","","","","","","","","Moderate Actionability (01/09/2025) | Moderate Actionability (01/09/2025)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC004 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC004"," | "
"ALPL","HGNC:438","https://search.clinicalgenome.org/kb/genes/HGNC:438","moderate hypophosphatasia","MONDO:0600010","https://search.clinicalgenome.org/kb/conditions/MONDO:0600010","N/A","","","","","","","","Moderate Actionability (01/09/2025) | Moderate Actionability (01/09/2025)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC004 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC004"," | "
"ALPL","HGNC:438","https://search.clinicalgenome.org/kb/genes/HGNC:438","severe hypophosphatasia","MONDO:0600009","https://search.clinicalgenome.org/kb/conditions/MONDO:0600009","N/A","","","","","","","","Moderate Actionability (01/09/2025) | Moderate Actionability (01/09/2025)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC004 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC004"," | "
"ALPL","HGNC:438","https://search.clinicalgenome.org/kb/genes/HGNC:438","perinatal lethal hypophosphatasia","MONDO:0016605","https://search.clinicalgenome.org/kb/conditions/MONDO:0016605","N/A","","","","","","","","Moderate Actionability (01/09/2025) | Moderate Actionability (01/09/2025)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC004 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC004"," | "
"ALS2","HGNC:443","https://search.clinicalgenome.org/kb/genes/HGNC:443","ALS2-related motor neuron disease","MONDO:0100227","https://search.clinicalgenome.org/kb/conditions/MONDO:0100227","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:443","Dosage Working Group","definitive evidence (02/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b31dd10c-0b38-4edf-8e23-fb2652c6e939-2023-02-14T170000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"ALS2","HGNC:443","https://search.clinicalgenome.org/kb/genes/HGNC:443","Alstrom syndrome","MONDO:0008763","https://search.clinicalgenome.org/kb/conditions/MONDO:0008763","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:443","Dosage Working Group","","","","","",""
"ALX1","HGNC:1494","https://search.clinicalgenome.org/kb/genes/HGNC:1494","frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome","MONDO:0013271","https://search.clinicalgenome.org/kb/conditions/MONDO:0013271","Autosomal recessive inheritance","","","","","definitive evidence (10/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ade0e1d8-3f68-4276-bc1d-173ca2d4936f-2022-10-13T160000.000Z","Craniofacial Malformations","","",""
"ALX3","HGNC:449","https://search.clinicalgenome.org/kb/genes/HGNC:449","frontorhiny","MONDO:0007636","https://search.clinicalgenome.org/kb/conditions/MONDO:0007636","Autosomal recessive inheritance","","","","","definitive evidence (10/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b460912-d5fd-4b7b-99da-ccd477fd8139-2022-10-13T160000.000Z","Craniofacial Malformations","","",""
"ALX4","HGNC:450","https://search.clinicalgenome.org/kb/genes/HGNC:450","parietal foramina 2","MONDO:0012309","https://search.clinicalgenome.org/kb/conditions/MONDO:0012309","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/22/2020)","0 - No Evidence for Triplosensitivity (07/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:450","Dosage Working Group","","","","","",""
"AMACR","HGNC:451","https://search.clinicalgenome.org/kb/genes/HGNC:451","alpha-methylacyl-CoA racemase deficiency","MONDO:0013681","https://search.clinicalgenome.org/kb/conditions/MONDO:0013681","Autosomal recessive inheritance","","","","","moderate evidence (03/31/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3fb8a3ea-cf06-4788-841f-e787f3780a49-2022-03-31T040000.000Z","Peroxisomal Disorders","","",""
"AMER1","HGNC:26837","https://search.clinicalgenome.org/kb/genes/HGNC:26837","osteopathia striata with cranial sclerosis","MONDO:0010310","https://search.clinicalgenome.org/kb/conditions/MONDO:0010310","X-linked inheritance","","","","","definitive evidence (02/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0c6c307-2d6c-4893-8f52-5fc6a2e2d440-2024-02-16T170000.000Z","Prenatal","","",""
"AMH","HGNC:464","https://search.clinicalgenome.org/kb/genes/HGNC:464","persistent Mullerian duct syndrome","MONDO:0009857","https://search.clinicalgenome.org/kb/conditions/MONDO:0009857","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:464","Dosage Working Group","","","","","",""
"AMN","HGNC:14604","https://search.clinicalgenome.org/kb/genes/HGNC:14604","Imerslund-Grasbeck syndrome type 1","MONDO:0100156","https://search.clinicalgenome.org/kb/conditions/MONDO:0100156","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14604","Dosage Working Group","","","","","",""
"AMT","HGNC:473","https://search.clinicalgenome.org/kb/genes/HGNC:473","glycine encephalopathy","MONDO:0011612","https://search.clinicalgenome.org/kb/conditions/MONDO:0011612","Autosomal recessive inheritance","","","","","definitive evidence (05/24/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a85e1b07-b975-4c92-b592-7b3e8d35805a-2019-05-24T160000.000Z","Aminoacidopathy","Limited Actionability (11/18/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1029",""
"ANAPC1","HGNC:19988","https://search.clinicalgenome.org/kb/genes/HGNC:19988","Rothmund-Thomson syndrome type 1","MONDO:0016368","https://search.clinicalgenome.org/kb/conditions/MONDO:0016368","Autosomal recessive inheritance","","","","","moderate evidence (09/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9160a17-6833-4930-a99f-0804a1207e49-2024-09-20T160000.000Z","Syndromic Disorders","","",""
"ANG","HGNC:483","https://search.clinicalgenome.org/kb/genes/HGNC:483","amyotrophic lateral sclerosis type 9","MONDO:0012753","https://search.clinicalgenome.org/kb/conditions/MONDO:0012753","Autosomal dominant inheritance","","","","","limited evidence (02/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ee17299-56dd-40a7-8cec-9a316f3e46f2-2022-02-08T000000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"ANGPT1","HGNC:484","https://search.clinicalgenome.org/kb/genes/HGNC:484","primary congenital glaucoma","MONDO:0000365","https://search.clinicalgenome.org/kb/conditions/MONDO:0000365","Autosomal dominant inheritance","","","","","limited evidence (02/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62aef3ff-a230-4b1e-88d8-8097c9975031-2024-02-15T200000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"ANGPTL3","HGNC:491","https://search.clinicalgenome.org/kb/genes/HGNC:491","familial hypobetalipoproteinemia 2","MONDO:0011505","https://search.clinicalgenome.org/kb/conditions/MONDO:0011505","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:491","Dosage Working Group","definitive evidence (09/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df7eb35c-09a3-4df2-bf05-22aee7de3855-2022-09-22T160000.000Z","General Gene Curation","","",""
"ANK1","HGNC:492","https://search.clinicalgenome.org/kb/genes/HGNC:492","hereditary spherocytosis","MONDO:0019350","https://search.clinicalgenome.org/kb/conditions/MONDO:0019350","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","definitive evidence (03/24/2021) | limited evidence (06/23/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82460b48-c4a5-4496-92ce-6fbad632d6d7-2021-03-24T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55457b0b-370e-466d-b2da-1cb8d67aecc8-2021-06-23T160000.000Z","General Gene Curation | General Gene Curation","","",""
"ANK2","HGNC:493","https://search.clinicalgenome.org/kb/genes/HGNC:493","Brugada syndrome","MONDO:0015263","https://search.clinicalgenome.org/kb/conditions/MONDO:0015263","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/14/2025)","0 - No Evidence for Triplosensitivity (01/14/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:493","Dosage Working Group","disputing (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10145","Brugada Syndrome","","",""
"ANK2","HGNC:493","https://search.clinicalgenome.org/kb/genes/HGNC:493","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/14/2025)","0 - No Evidence for Triplosensitivity (01/14/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:493","Dosage Working Group","disputing (12/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd577817-d668-413c-95f9-d3e08a8cf5d3-2020-12-15T002719.834Z","Long QT Syndrome","","",""
"ANK2","HGNC:493","https://search.clinicalgenome.org/kb/genes/HGNC:493","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/14/2025)","0 - No Evidence for Triplosensitivity (01/14/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:493","Dosage Working Group","definitive evidence (10/21/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_097e646b-467f-4c08-95d6-958ed324562b-2020-10-21T100000.000Z","Intellectual Disability and Autism","","",""
"ANK2","HGNC:493","https://search.clinicalgenome.org/kb/genes/HGNC:493","catecholaminergic polymorphic ventricular tachycardia","MONDO:0017990","https://search.clinicalgenome.org/kb/conditions/MONDO:0017990","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/14/2025)","0 - No Evidence for Triplosensitivity (01/14/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:493","Dosage Working Group","disputing (01/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7e5e43e-1596-4c15-bf14-e9388b204e88-2021-01-20T170000.000Z","Catecholaminergic Polymorphic Ventricular Tachycardia","","",""
"ANK3","HGNC:494","https://search.clinicalgenome.org/kb/genes/HGNC:494","intellectual disability","MONDO:0001071","https://search.clinicalgenome.org/kb/conditions/MONDO:0001071","Autosomal recessive inheritance","","","","","moderate evidence (10/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_668a89e3-477d-434c-8ab4-0bc9ec3504de-2024-10-02T100000.000Z","Intellectual Disability and Autism","","",""
"ANKRD1","HGNC:15819","https://search.clinicalgenome.org/kb/genes/HGNC:15819","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","disputing (02/08/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f241e6c-2fc8-4f23-b976-3b79d90fad3e-2023-02-08T170000.000Z","Hereditary Cardiovascular Disease","","",""
"ANKRD1","HGNC:15819","https://search.clinicalgenome.org/kb/genes/HGNC:15819","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","limited evidence (02/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3dcc6918-d7e7-4385-b343-bc8b8678b3a4-2025-02-07T170000.000Z","Dilated Cardiomyopathy","","",""
"ANKRD1","HGNC:15819","https://search.clinicalgenome.org/kb/genes/HGNC:15819","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (08/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcf5126d-f39b-45e6-82c6-6f92c1d2435d-2024-08-12T160000.000Z","Congenital Heart Disease","","",""
"ANKRD11","HGNC:21316","https://search.clinicalgenome.org/kb/genes/HGNC:21316","KBG syndrome","MONDO:0007846","https://search.clinicalgenome.org/kb/conditions/MONDO:0007846","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/14/2022)","0 - No Evidence for Triplosensitivity (06/14/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21316","Dosage Working Group","definitive evidence (11/26/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf3e887e-8da4-45ea-bec8-9565f8246bc9-2019-11-26T170000.000Z","Intellectual Disability and Autism","","",""
"ANKRD17","HGNC:23575","https://search.clinicalgenome.org/kb/genes/HGNC:23575","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/11/2023)","0 - No Evidence for Triplosensitivity (04/11/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23575","Dosage Working Group","definitive evidence (12/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48a9765c-f7ae-46f4-aa6f-7fa95f81404f-2024-12-12T170000.000Z","Intellectual Disability and Autism","","",""
"ANKRD17","HGNC:23575","https://search.clinicalgenome.org/kb/genes/HGNC:23575","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/11/2023)","0 - No Evidence for Triplosensitivity (04/11/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23575","Dosage Working Group","","","","","",""
"ANKRD26","HGNC:29186","https://search.clinicalgenome.org/kb/genes/HGNC:29186","thrombocytopenia 2","MONDO:0008555","https://search.clinicalgenome.org/kb/conditions/MONDO:0008555","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/10/2023)","0 - No Evidence for Triplosensitivity (10/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29186","Dosage Working Group","definitive evidence (09/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e86bee2b-8353-48c2-8ea3-a6b2b26cdb2f-2019-09-25T160000.000Z","Hemostasis Thrombosis","","",""
"ANKS6","HGNC:26724","https://search.clinicalgenome.org/kb/genes/HGNC:26724","nephronophthisis 16","MONDO:0014158","https://search.clinicalgenome.org/kb/conditions/MONDO:0014158","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26724","Dosage Working Group","definitive evidence (08/25/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62df8a40-0b65-46a4-89c8-51f26424c523-2021-08-25T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"ANKZF1","HGNC:25527","https://search.clinicalgenome.org/kb/genes/HGNC:25527","inflammatory bowel disease","MONDO:0005265","https://search.clinicalgenome.org/kb/conditions/MONDO:0005265","Mode of inheritance","","","","","no known disease relationship (04/15/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c576dc9d-3feb-4707-9fe4-b58622f4495d-2025-04-15T160000.000Z","Primary Immune Regulatory Disorders","","",""
"ANO10","HGNC:25519","https://search.clinicalgenome.org/kb/genes/HGNC:25519","autosomal recessive spinocerebellar ataxia 10","MONDO:0013392","https://search.clinicalgenome.org/kb/conditions/MONDO:0013392","Autosomal recessive inheritance","","","","","definitive evidence (12/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ae3de38-041c-4440-8302-7a33de494755-2024-12-11T170000.000Z","Cerebellar Ataxia","","",""
"ANO5","HGNC:27337","https://search.clinicalgenome.org/kb/genes/HGNC:27337","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","","","","","definitive evidence (11/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cecfa828-c192-44ae-9f3f-9dd5a99a5e5a-2024-11-14T170000.000Z","Muscular Dystrophies and Myopathies","","",""
"ANO5","HGNC:27337","https://search.clinicalgenome.org/kb/genes/HGNC:27337","gnathodiaphyseal dysplasia","MONDO:0008151","https://search.clinicalgenome.org/kb/conditions/MONDO:0008151","Autosomal dominant inheritance","","","","","definitive evidence (02/03/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef25799d-71a4-414c-8826-6d90c5b24d4b-2025-02-03T170000.000Z","Skeletal Disorders","","",""
"ANO6","HGNC:25240","https://search.clinicalgenome.org/kb/genes/HGNC:25240","Scott syndrome","MONDO:0009885","https://search.clinicalgenome.org/kb/conditions/MONDO:0009885","Autosomal recessive inheritance","","","","","moderate evidence (06/04/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2d3c125-1938-4295-82bb-b2851a3b2c8d-2025-06-04T160000.000Z","Hemostasis Thrombosis","","",""
"ANOS1","HGNC:6211","https://search.clinicalgenome.org/kb/genes/HGNC:6211","hypogonadotropic hypogonadism 1 with or without anosmia","MONDO:0010635","https://search.clinicalgenome.org/kb/conditions/MONDO:0010635","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/26/2021)","0 - No Evidence for Triplosensitivity (05/26/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6211","Dosage Working Group","definitive evidence (05/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b7650b6-f2b6-4ac3-a967-3e631c98d7b1-2022-05-17T223152.758Z","Syndromic Disorders","","",""
"ANTXR2","HGNC:21732","https://search.clinicalgenome.org/kb/genes/HGNC:21732","hyaline fibromatosis syndrome","MONDO:0009229","https://search.clinicalgenome.org/kb/conditions/MONDO:0009229","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21732","Dosage Working Group","definitive evidence (11/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0368b332-6765-451e-867b-71dd93e05ae4-2022-11-22T170000.000Z","Syndromic Disorders","","",""
"ANXA11","HGNC:535","https://search.clinicalgenome.org/kb/genes/HGNC:535","amyotrophic lateral sclerosis type 23","MONDO:0027694","https://search.clinicalgenome.org/kb/conditions/MONDO:0027694","Autosomal dominant inheritance","","","","","definitive evidence (11/12/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4dca2f56-87c6-4ac7-97bf-0889883b8e63-2021-11-12T215939.032Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"AP1B1","HGNC:554","https://search.clinicalgenome.org/kb/genes/HGNC:554","ichthyosiform erythroderma, corneal involvement, and hearing loss","MONDO:0009440","https://search.clinicalgenome.org/kb/conditions/MONDO:0009440","Autosomal recessive inheritance","","","","","definitive evidence (08/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_670db330-6dc2-44b1-9e65-c7758b1aecb2-2024-08-29T160000.000Z","General Inborn Errors of Metabolism","","",""
"AP1G1","HGNC:555","https://search.clinicalgenome.org/kb/genes/HGNC:555","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","strong evidence (11/02/2022) | limited evidence (11/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3519527-9a80-4f0e-9ea6-c4244eb2ee33-2022-11-02T190000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d636cccc-aa9c-4927-ae40-538bf34d0620-2022-11-02T190000.000Z","Intellectual Disability and Autism | Intellectual Disability and Autism","","",""
"AP1S1","HGNC:559","https://search.clinicalgenome.org/kb/genes/HGNC:559","MEDNIK syndrome","MONDO:0012251","https://search.clinicalgenome.org/kb/conditions/MONDO:0012251","Autosomal recessive inheritance","","","","","definitive evidence (06/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9559de4-1945-47fa-bea5-336d376eec0e-2022-06-10T160000.000Z","General Inborn Errors of Metabolism","","",""
"AP1S2","HGNC:560","https://search.clinicalgenome.org/kb/genes/HGNC:560","X-linked syndromic complex neurodevelopmental disorder","MONDO:1040018","https://search.clinicalgenome.org/kb/conditions/MONDO:1040018","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/28/2021)","0 - No Evidence for Triplosensitivity (04/28/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:560","Dosage Working Group","definitive evidence (04/22/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9caaaacd-e262-421c-826b-8433848721ff-2025-04-22T160000.000Z","Intellectual Disability and Autism","","",""
"AP1S2","HGNC:560","https://search.clinicalgenome.org/kb/genes/HGNC:560","syndromic X-linked intellectual disability 5","MONDO:0010574","https://search.clinicalgenome.org/kb/conditions/MONDO:0010574","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/28/2021)","0 - No Evidence for Triplosensitivity (04/28/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:560","Dosage Working Group","","","","","",""
"AP2M1","HGNC:564","https://search.clinicalgenome.org/kb/genes/HGNC:564","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (10/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_800ffff6-7cf0-4131-aa96-e3bb4f0bde76-2024-10-01T170000.000Z","Epilepsy","","",""
"AP3B1","HGNC:566","https://search.clinicalgenome.org/kb/genes/HGNC:566","Hermansky-Pudlak syndrome 2","MONDO:0011997","https://search.clinicalgenome.org/kb/conditions/MONDO:0011997","Autosomal recessive inheritance","","","","","definitive evidence (02/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00ce813c-9493-48f9-9351-b70defb71d75-2020-02-26T170000.000Z","Hemostasis Thrombosis","","",""
"AP3D1","HGNC:568","https://search.clinicalgenome.org/kb/genes/HGNC:568","Hermansky-Pudlak syndrome 10","MONDO:0014885","https://search.clinicalgenome.org/kb/conditions/MONDO:0014885","Autosomal recessive inheritance","","","","","moderate evidence (06/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ec9ffa2-efda-446d-a848-e6d4d5b92fb6-2023-06-07T160000.000Z","Hemostasis Thrombosis","","",""
"AP4B1","HGNC:572","https://search.clinicalgenome.org/kb/genes/HGNC:572","AP-4 deficiency syndrome","MONDO:0100176","https://search.clinicalgenome.org/kb/conditions/MONDO:0100176","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:572","Dosage Working Group","definitive evidence (07/25/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4436344a-e0da-4c42-b06a-cdf8a2581ce5-2021-07-25T220000.000Z","Intellectual Disability and Autism","","",""
"AP4B1","HGNC:572","https://search.clinicalgenome.org/kb/genes/HGNC:572","hereditary spastic paraplegia 47","MONDO:0013551","https://search.clinicalgenome.org/kb/conditions/MONDO:0013551","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:572","Dosage Working Group","","","","","",""
"AP4E1","HGNC:573","https://search.clinicalgenome.org/kb/genes/HGNC:573","AP-4 deficiency syndrome","MONDO:0100176","https://search.clinicalgenome.org/kb/conditions/MONDO:0100176","Autosomal recessive inheritance","","","","","definitive evidence (12/16/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be93d2e7-f302-41a7-9675-032510e46ad2-2020-12-16T170000.000Z","Intellectual Disability and Autism","","",""
"AP4M1","HGNC:574","https://search.clinicalgenome.org/kb/genes/HGNC:574","AP-4 deficiency syndrome","MONDO:0100176","https://search.clinicalgenome.org/kb/conditions/MONDO:0100176","Autosomal recessive inheritance","","","","","definitive evidence (04/06/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f49be3e4-4e1f-478b-b4e0-f41623e5b548-2021-04-06T220000.000Z","Intellectual Disability and Autism","","",""
"AP4S1","HGNC:575","https://search.clinicalgenome.org/kb/genes/HGNC:575","AP-4 deficiency syndrome","MONDO:0100176","https://search.clinicalgenome.org/kb/conditions/MONDO:0100176","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:575","Dosage Working Group","definitive evidence (04/25/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_652e2cbe-22aa-4cd4-ba41-5bacca69af13-2023-04-25T160000.000Z","Intellectual Disability and Autism","","",""
"AP4S1","HGNC:575","https://search.clinicalgenome.org/kb/genes/HGNC:575","hereditary spastic paraplegia 52","MONDO:0013552","https://search.clinicalgenome.org/kb/conditions/MONDO:0013552","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:575","Dosage Working Group","","","","","",""
"AP5Z1","HGNC:22197","https://search.clinicalgenome.org/kb/genes/HGNC:22197","hereditary spastic paraplegia","MONDO:0019064","https://search.clinicalgenome.org/kb/conditions/MONDO:0019064","Autosomal recessive inheritance","","","","","definitive evidence (09/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_020a234e-180c-4d9f-8f04-bd79eac6046e-2022-09-19T160000.000Z","Cerebral Palsy","","",""
"APC","HGNC:583","https://search.clinicalgenome.org/kb/genes/HGNC:583","classic or attenuated familial adenomatous polyposis","MONDO:0021057","https://search.clinicalgenome.org/kb/conditions/MONDO:0021057","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/19/2021)","0 - No Evidence for Triplosensitivity (07/19/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:583","Dosage Working Group","definitive evidence (06/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cdf062b6-6abf-49f6-a2dc-43b0e535f1b6-2022-06-20T170000.000Z","Hereditary Cancer","Strong Actionability (10/01/2019) | Definitive Actionability (10/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC048 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC048"," | "
"APC","HGNC:583","https://search.clinicalgenome.org/kb/genes/HGNC:583","gastric adenocarcinoma and proximal polyposis of the stomach","MONDO:0017790","https://search.clinicalgenome.org/kb/conditions/MONDO:0017790","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/19/2021)","0 - No Evidence for Triplosensitivity (07/19/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:583","Dosage Working Group","definitive evidence (06/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22036d0d-71a8-4824-894b-0de40c412e15-2022-06-20T170000.000Z","Hereditary Cancer","","",""
"APC","HGNC:583","https://search.clinicalgenome.org/kb/genes/HGNC:583","attenuated familial adenomatous polyposis","MONDO:0016362","https://search.clinicalgenome.org/kb/conditions/MONDO:0016362","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/19/2021)","0 - No Evidence for Triplosensitivity (07/19/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:583","Dosage Working Group","","","","Strong Actionability (10/01/2019) | Definitive Actionability (10/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC048 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC048"," | "
"APC","HGNC:583","https://search.clinicalgenome.org/kb/genes/HGNC:583","APC-related attenuated familial adenomatous polyposis","MONDO:0016613","https://search.clinicalgenome.org/kb/conditions/MONDO:0016613","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/19/2021)","0 - No Evidence for Triplosensitivity (07/19/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:583","Dosage Working Group","","","","Strong Actionability (10/01/2019) | Definitive Actionability (10/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC048 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC048"," | "
"APC","HGNC:583","https://search.clinicalgenome.org/kb/genes/HGNC:583","classic familial adenomatous polyposis","MONDO:0021055","https://search.clinicalgenome.org/kb/conditions/MONDO:0021055","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/19/2021)","0 - No Evidence for Triplosensitivity (07/19/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:583","Dosage Working Group","","","","Strong Actionability (10/01/2019) | Definitive Actionability (10/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC048 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC048"," | "
"APC2","HGNC:24036","https://search.clinicalgenome.org/kb/genes/HGNC:24036","lissencephaly spectrum disorders","MONDO:0018838","https://search.clinicalgenome.org/kb/conditions/MONDO:0018838","Autosomal recessive inheritance","","","","","strong evidence (10/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4fd2851a-bba3-47eb-a97c-e8bf51ec6766-2022-10-11T160000.000Z","Brain Malformations","","",""
"APOA4","HGNC:602","https://search.clinicalgenome.org/kb/genes/HGNC:602","autosomal dominant medullary cystic kidney disease with or without hyperuricemia","MONDO:0008264","https://search.clinicalgenome.org/kb/conditions/MONDO:0008264","Autosomal dominant inheritance","","","","","limited evidence (02/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_433a4c49-838e-4601-92af-caece99d62eb-2024-02-28T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"APOB","HGNC:603","https://search.clinicalgenome.org/kb/genes/HGNC:603","hypercholesterolemia, autosomal dominant, type B","MONDO:0007751","https://search.clinicalgenome.org/kb/conditions/MONDO:0007751","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/09/2020)","0 - No Evidence for Triplosensitivity (04/09/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:603","Dosage Working Group","definitive evidence (11/14/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c26b83b-409e-47c7-9c53-6ca79472d6fc-2018-11-14T180000.000Z","General Gene Curation","Strong Actionability (08/03/2020) | Strong Actionability (08/03/2020) | Strong Actionability (08/03/2020) | Definitive Actionability (08/03/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC057 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC065 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC065 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC057"," |  |  | "
"APOB","HGNC:603","https://search.clinicalgenome.org/kb/genes/HGNC:603","familial hypobetalipoproteinemia 1","MONDO:0014252","https://search.clinicalgenome.org/kb/conditions/MONDO:0014252","Semidominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/09/2020)","0 - No Evidence for Triplosensitivity (04/09/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:603","Dosage Working Group","definitive evidence (02/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7382aae-83d5-4a23-b1fe-e3d6acea8584-2020-02-26T170000.000Z","General Gene Curation","","",""
"APOB","HGNC:603","https://search.clinicalgenome.org/kb/genes/HGNC:603","homozygous familial hypercholesterolemia","MONDO:0018328","https://search.clinicalgenome.org/kb/conditions/MONDO:0018328","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/09/2020)","0 - No Evidence for Triplosensitivity (04/09/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:603","Dosage Working Group","","","","Strong Actionability (08/03/2020) | Strong Actionability (08/03/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC065 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC065"," | "
"APOC2","HGNC:609","https://search.clinicalgenome.org/kb/genes/HGNC:609","familial apolipoprotein C-II deficiency","MONDO:0008810","https://search.clinicalgenome.org/kb/conditions/MONDO:0008810","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:609","Dosage Working Group","","","","","",""
"APOL1","HGNC:618","https://search.clinicalgenome.org/kb/genes/HGNC:618","focal segmental glomerulosclerosis 4, susceptibility to","MONDO:0012931","https://search.clinicalgenome.org/kb/conditions/MONDO:0012931","Autosomal recessive inheritance","","","","","definitive evidence (09/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47d0f13d-5122-4762-82c9-08db3ba104d1-2021-09-28T023000.000Z","Glomerulopathy","","",""
"APOLD1","HGNC:25268","https://search.clinicalgenome.org/kb/genes/HGNC:25268","inherited blood coagulation disorder","MONDO:0021181","https://search.clinicalgenome.org/kb/conditions/MONDO:0021181","Autosomal dominant inheritance","","","","","limited evidence (02/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b8a1833-03a5-4e71-9f31-974fcd6443f6-2024-02-05T170000.000Z","Hemostasis Thrombosis","","",""
"APP","HGNC:620","https://search.clinicalgenome.org/kb/genes/HGNC:620","early-onset autosomal dominant Alzheimer disease","MONDO:0015140","https://search.clinicalgenome.org/kb/conditions/MONDO:0015140","N/A","0 - No Evidence for Haploinsufficiency (10/27/2025)","1 - Little Evidence for Triplosensitivity (10/27/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:620","Dosage Working Group","","","","","",""
"APPL1","HGNC:24035","https://search.clinicalgenome.org/kb/genes/HGNC:24035","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Autosomal dominant inheritance","","","","","limited evidence (12/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e2bc680-f1d4-4b65-baaa-22b4ff22b56e-2021-12-15T170000.000Z","Monogenic Diabetes","","",""
"AQP1","HGNC:633","https://search.clinicalgenome.org/kb/genes/HGNC:633","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","limited evidence (01/11/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29eda804-13df-4fe9-bbb3-9494b11edc92-2021-01-11T145519.495Z","Pulmonary Hypertension","","",""
"AR","HGNC:644","https://search.clinicalgenome.org/kb/genes/HGNC:644","Kennedy disease","MONDO:0010735","https://search.clinicalgenome.org/kb/conditions/MONDO:0010735","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/08/2020)","0 - No Evidence for Triplosensitivity (12/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:644","Dosage Working Group","definitive evidence (08/08/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a05eab29-c7e9-4b2a-9378-ac384962b69c-2023-08-08T190000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"AR","HGNC:644","https://search.clinicalgenome.org/kb/genes/HGNC:644","androgen insensitivity syndrome","MONDO:0019154","https://search.clinicalgenome.org/kb/conditions/MONDO:0019154","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/08/2020)","0 - No Evidence for Triplosensitivity (12/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:644","Dosage Working Group","","","","","",""
"ARCN1","HGNC:649","https://search.clinicalgenome.org/kb/genes/HGNC:649","short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay","MONDO:0014948","https://search.clinicalgenome.org/kb/conditions/MONDO:0014948","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/10/2022)","0 - No Evidence for Triplosensitivity (05/10/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:649","Dosage Working Group","","","","","",""
"ARF1","HGNC:652","https://search.clinicalgenome.org/kb/genes/HGNC:652","periventricular nodular heterotopia","MONDO:0020341","https://search.clinicalgenome.org/kb/conditions/MONDO:0020341","Autosomal dominant inheritance","","","","","definitive evidence (06/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b42038d-6fb1-40be-96c3-1e97eacd9092-2024-06-28T160000.000Z","Brain Malformations","","",""
"ARFGEF2","HGNC:15853","https://search.clinicalgenome.org/kb/genes/HGNC:15853","periventricular heterotopia with microcephaly, autosomal recessive","MONDO:0011966","https://search.clinicalgenome.org/kb/conditions/MONDO:0011966","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15853","Dosage Working Group","definitive evidence (09/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_814507e0-e6cd-4bce-a4c6-4d1caa61cfc3-2023-09-12T170000.000Z","Brain Malformations","","",""
"ARG1","HGNC:663","https://search.clinicalgenome.org/kb/genes/HGNC:663","arginase deficiency","MONDO:0008814","https://search.clinicalgenome.org/kb/conditions/MONDO:0008814","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:663","Dosage Working Group","definitive evidence (06/29/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0157f793-9232-4700-bbf0-dfb16270f688-2020-06-29T174101.533Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (05/15/2023) | Limited Actionability (12/17/2024)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1051 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1051"," | "
"ARHGAP29","HGNC:30207","https://search.clinicalgenome.org/kb/genes/HGNC:30207","orofacial cleft","MONDO:0000358","https://search.clinicalgenome.org/kb/conditions/MONDO:0000358","Autosomal dominant inheritance","","","","","definitive evidence (08/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48ab3875-5bae-4b9c-8744-8ff16e4903ee-2024-08-15T160000.000Z","Craniofacial Malformations","","",""
"ARHGDIA","HGNC:678","https://search.clinicalgenome.org/kb/genes/HGNC:678","nephrotic syndrome, type 8","MONDO:0014099","https://search.clinicalgenome.org/kb/conditions/MONDO:0014099","Autosomal recessive inheritance","","","","","moderate evidence (05/24/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e529f2b-21ac-44b2-981e-048e92e377a1-2022-05-24T180000.000Z","Glomerulopathy","","",""
"ARHGEF1","HGNC:681","https://search.clinicalgenome.org/kb/genes/HGNC:681","immunodeficiency 62","MONDO:0032763","https://search.clinicalgenome.org/kb/conditions/MONDO:0032763","Autosomal recessive inheritance","","","","","limited evidence (01/19/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9547c192-135d-48b3-a1c0-2eca5e2608c5-2021-01-19T214711.722Z","Antibody Deficiencies GCEP","","",""
"ARHGEF10","HGNC:14103","https://search.clinicalgenome.org/kb/genes/HGNC:14103","autosomal dominant slowed nerve conduction velocity","MONDO:0011998","https://search.clinicalgenome.org/kb/conditions/MONDO:0011998","Autosomal dominant inheritance","","","","","limited evidence (10/05/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b23121f9-57e1-48ac-a2bc-d5a293829530-2020-10-05T160423.090Z","Charcot-Marie-Tooth","","",""
"ARHGEF18","HGNC:17090","https://search.clinicalgenome.org/kb/genes/HGNC:17090","inherited retinal dystrophy","MONDO:0019118","https://search.clinicalgenome.org/kb/conditions/MONDO:0019118","Autosomal recessive inheritance","","","","","moderate evidence (11/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96382044-7790-49d1-848c-01d699df9550-2024-11-07T170000.000Z","Retina","","",""
"ARHGEF28","HGNC:30322","https://search.clinicalgenome.org/kb/genes/HGNC:30322","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Semidominant inheritance","","","","","limited evidence (03/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac27cecc-9749-4c69-88fa-fe83b2d49568-2024-03-28T190000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"ARHGEF6","HGNC:685","https://search.clinicalgenome.org/kb/genes/HGNC:685","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","0 - No Evidence for Haploinsufficiency (04/25/2012)","0 - No Evidence for Triplosensitivity (04/25/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:685","Dosage Working Group","disputing (10/19/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d248ef99-6ff8-43d8-a24e-dfce6b2db1c8-2020-10-19T220000.000Z","Intellectual Disability and Autism","","",""
"ARHGEF9","HGNC:14561","https://search.clinicalgenome.org/kb/genes/HGNC:14561","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/25/2021)","0 - No Evidence for Triplosensitivity (11/25/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14561","Dosage Working Group","definitive evidence (05/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9305fb2c-6cdf-492d-9dd0-8b03dd4fab1c-2024-05-23T160000.000Z","Intellectual Disability and Autism","","",""
"ARID1A","HGNC:11110","https://search.clinicalgenome.org/kb/genes/HGNC:11110","Coffin-Siris syndrome","MONDO:0015452","https://search.clinicalgenome.org/kb/conditions/MONDO:0015452","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/27/2020)","0 - No Evidence for Triplosensitivity (05/27/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11110","Dosage Working Group","definitive evidence (07/07/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aaf6d47a-656a-49ca-ba9e-169f25bf03e7-2021-07-07T160000.000Z","Intellectual Disability and Autism","","",""
"ARID1A","HGNC:11110","https://search.clinicalgenome.org/kb/genes/HGNC:11110","intellectual disability, autosomal dominant 14","MONDO:0013819","https://search.clinicalgenome.org/kb/conditions/MONDO:0013819","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/27/2020)","0 - No Evidence for Triplosensitivity (05/27/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11110","Dosage Working Group","","","","","",""
"ARID1B","HGNC:18040","https://search.clinicalgenome.org/kb/genes/HGNC:18040","Coffin-Siris syndrome","MONDO:0015452","https://search.clinicalgenome.org/kb/conditions/MONDO:0015452","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/26/2021)","0 - No Evidence for Triplosensitivity (05/26/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18040","Dosage Working Group","definitive evidence (12/04/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d487e6c4-9727-4315-90a2-11338128a8e5-2019-12-04T200734.569Z","Intellectual Disability and Autism","","",""
"ARID1B","HGNC:18040","https://search.clinicalgenome.org/kb/genes/HGNC:18040","Coffin-Siris syndrome 1","MONDO:0007617","https://search.clinicalgenome.org/kb/conditions/MONDO:0007617","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/26/2021)","0 - No Evidence for Triplosensitivity (05/26/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18040","Dosage Working Group","","","","","",""
"ARID2","HGNC:18037","https://search.clinicalgenome.org/kb/genes/HGNC:18037","Coffin-Siris syndrome","MONDO:0015452","https://search.clinicalgenome.org/kb/conditions/MONDO:0015452","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/26/2019)","0 - No Evidence for Triplosensitivity (06/26/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18037","Dosage Working Group","definitive evidence (12/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae1a697f-8dcd-4edf-a25b-e5e0593e7e61-2022-12-06T230000.000Z","Intellectual Disability and Autism","","",""
"ARID2","HGNC:18037","https://search.clinicalgenome.org/kb/genes/HGNC:18037","Coffin-Siris syndrome 6","MONDO:0033492","https://search.clinicalgenome.org/kb/conditions/MONDO:0033492","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/26/2019)","0 - No Evidence for Triplosensitivity (06/26/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18037","Dosage Working Group","","","","","",""
"ARL13B","HGNC:25419","https://search.clinicalgenome.org/kb/genes/HGNC:25419","Joubert syndrome","MONDO:0018772","https://search.clinicalgenome.org/kb/conditions/MONDO:0018772","Autosomal recessive inheritance","","","","","definitive evidence (06/03/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6c474c9-4035-498c-a902-03be50d36205-2020-06-03T210114.719Z","Syndromic Disorders","","",""
"ARL2BP","HGNC:17146","https://search.clinicalgenome.org/kb/genes/HGNC:17146","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","definitive evidence (01/02/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afe2baae-73d8-4f77-a106-a9163dbde4ce-2025-01-02T170000.000Z","Retina","","",""
"ARL6","HGNC:13210","https://search.clinicalgenome.org/kb/genes/HGNC:13210","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13210","Dosage Working Group","definitive evidence (07/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9289028a-10d0-4d9a-aa17-13d13d91c732-2025-07-14T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"ARL6","HGNC:13210","https://search.clinicalgenome.org/kb/genes/HGNC:13210","Bardet-Biedl syndrome 3","MONDO:0010832","https://search.clinicalgenome.org/kb/conditions/MONDO:0010832","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13210","Dosage Working Group","","","","","",""
"ARL6IP1","HGNC:697","https://search.clinicalgenome.org/kb/genes/HGNC:697","hereditary spastic paraplegia","MONDO:0019064","https://search.clinicalgenome.org/kb/conditions/MONDO:0019064","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:697","Dosage Working Group","definitive evidence (10/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58275699-f116-4243-83da-72f751753837-2022-10-17T180000.000Z","Cerebral Palsy","","",""
"ARL6IP1","HGNC:697","https://search.clinicalgenome.org/kb/genes/HGNC:697","hereditary spastic paraplegia 61","MONDO:0014304","https://search.clinicalgenome.org/kb/conditions/MONDO:0014304","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:697","Dosage Working Group","","","","","",""
"ARMC2","HGNC:23045","https://search.clinicalgenome.org/kb/genes/HGNC:23045","spermatogenic failure 38","MONDO:0032748","https://search.clinicalgenome.org/kb/conditions/MONDO:0032748","Autosomal recessive inheritance","","","","","definitive evidence (05/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aef0ad23-4568-4ef7-94e9-557981bfbe6c-2023-05-10T160000.000Z","Motile Ciliopathy GCEP","","",""
"ARMC9","HGNC:20730","https://search.clinicalgenome.org/kb/genes/HGNC:20730","Joubert syndrome 30","MONDO:0033308","https://search.clinicalgenome.org/kb/conditions/MONDO:0033308","Autosomal recessive inheritance","","","","","definitive evidence (06/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_77d8b454-195d-463c-b043-fc068392a23b-2023-06-28T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"ARPC1B","HGNC:704","https://search.clinicalgenome.org/kb/genes/HGNC:704","platelet abnormalities with eosinophilia and immune-mediated inflammatory disease","MONDO:0060583","https://search.clinicalgenome.org/kb/conditions/MONDO:0060583","Autosomal recessive inheritance","","","","","definitive evidence (07/22/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13909f11-a592-41cc-ade9-c77a5b49b253-2020-07-22T160000.000Z","Hemostasis Thrombosis","","",""
"ARPP21","HGNC:16968","https://search.clinicalgenome.org/kb/genes/HGNC:16968","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","","","","","limited evidence (01/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02d4089a-94dd-42b6-ab09-dc258db00ae9-2025-01-14T200000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"ARSA","HGNC:713","https://search.clinicalgenome.org/kb/genes/HGNC:713","metachromatic leukodystrophy","MONDO:0018868","https://search.clinicalgenome.org/kb/conditions/MONDO:0018868","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/05/2012)","0 - No Evidence for Triplosensitivity (09/05/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:713","Dosage Working Group","definitive evidence (06/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8d351d5-5158-4cc2-b4dd-d3179b53e2a4-2023-06-15T160000.000Z","Lysosomal Diseases GCEP","","",""
"ARSA","HGNC:713","https://search.clinicalgenome.org/kb/genes/HGNC:713","metachromatic leukodystrophy, juvenile form","MONDO:0009591","https://search.clinicalgenome.org/kb/conditions/MONDO:0009591","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (09/05/2012)","0 - No Evidence for Triplosensitivity (09/05/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:713","Dosage Working Group","","","","","",""
"ARSB","HGNC:714","https://search.clinicalgenome.org/kb/genes/HGNC:714","mucopolysaccharidosis type 6","MONDO:0009661","https://search.clinicalgenome.org/kb/conditions/MONDO:0009661","Autosomal recessive inheritance","","","","","definitive evidence (04/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a850717-e21b-495d-8542-de4fdb142647-2022-04-17T160000.000Z","Lysosomal Diseases GCEP","","",""
"ARSL","HGNC:719","https://search.clinicalgenome.org/kb/genes/HGNC:719","X-linked chondrodysplasia punctata 1","MONDO:0010555","https://search.clinicalgenome.org/kb/conditions/MONDO:0010555","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/12/2012)","0 - No Evidence for Triplosensitivity (07/12/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:719","Dosage Working Group","definitive evidence (08/29/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c48d88b-d100-4203-8abf-03f3199bf3e0-2023-08-29T160000.000Z","Syndromic Disorders","","",""
"ARX","HGNC:18060","https://search.clinicalgenome.org/kb/genes/HGNC:18060","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/05/2019)","0 - No Evidence for Triplosensitivity (12/05/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18060","Dosage Working Group","definitive evidence (06/04/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a5357ce-2161-4a7f-a8e1-a1dba4550e57-2019-06-04T040000.000Z","Epilepsy","","",""
"ARX","HGNC:18060","https://search.clinicalgenome.org/kb/genes/HGNC:18060","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/05/2019)","0 - No Evidence for Triplosensitivity (12/05/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18060","Dosage Working Group","definitive evidence (12/01/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccf3ab49-ee8f-4980-aa04-ca13c21c124a-2020-12-01T170000.000Z","Intellectual Disability and Autism","","",""
"ARX","HGNC:18060","https://search.clinicalgenome.org/kb/genes/HGNC:18060","X-linked lissencephaly with abnormal genitalia","MONDO:0010268","https://search.clinicalgenome.org/kb/conditions/MONDO:0010268","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/05/2019)","0 - No Evidence for Triplosensitivity (12/05/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18060","Dosage Working Group","","","","","",""
"ASAH1","HGNC:735","https://search.clinicalgenome.org/kb/genes/HGNC:735","ASAH1-related sphingolipidosis","MONDO:0100524","https://search.clinicalgenome.org/kb/conditions/MONDO:0100524","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/12/2017)","0 - No Evidence for Triplosensitivity (09/12/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:735","Dosage Working Group","definitive evidence (10/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d7d25555-4d27-4fd4-8619-cdf78b50701a-2023-10-04T160000.000Z","Lysosomal Diseases GCEP","","",""
"ASAH1","HGNC:735","https://search.clinicalgenome.org/kb/genes/HGNC:735","Farber lipogranulomatosis","MONDO:0009218","https://search.clinicalgenome.org/kb/conditions/MONDO:0009218","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (09/12/2017)","0 - No Evidence for Triplosensitivity (09/12/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:735","Dosage Working Group","","","","","",""
"ASB10","HGNC:17185","https://search.clinicalgenome.org/kb/genes/HGNC:17185","obsolete glaucoma 1, open angle, F","MONDO:0011311","https://search.clinicalgenome.org/kb/conditions/MONDO:0011311","Autosomal dominant inheritance","","","","","limited evidence (03/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac9aa333-15d1-404d-85e1-a3d6e759dc0b-2023-03-16T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"ASH1L","HGNC:19088","https://search.clinicalgenome.org/kb/genes/HGNC:19088","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/27/2017)","0 - No Evidence for Triplosensitivity (12/27/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19088","Dosage Working Group","definitive evidence (02/23/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41052ba5-878d-4e64-8ef2-ed65887a1345-2023-02-23T070000.000Z","Intellectual Disability and Autism","","",""
"ASH1L","HGNC:19088","https://search.clinicalgenome.org/kb/genes/HGNC:19088","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/27/2017)","0 - No Evidence for Triplosensitivity (12/27/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19088","Dosage Working Group","","","","","",""
"ASL","HGNC:746","https://search.clinicalgenome.org/kb/genes/HGNC:746","argininosuccinic aciduria","MONDO:0008815","https://search.clinicalgenome.org/kb/conditions/MONDO:0008815","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:746","Dosage Working Group","definitive evidence (09/15/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c16021b9-f6db-4e41-90f3-4786d63a1fa3-2018-09-15T160000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (05/04/2021) | Moderate Actionability (05/04/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1028 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1028"," | "
"ASNS","HGNC:753","https://search.clinicalgenome.org/kb/genes/HGNC:753","congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome","MONDO:0014258","https://search.clinicalgenome.org/kb/conditions/MONDO:0014258","Autosomal recessive inheritance","","","","","definitive evidence (06/29/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1cea57d-fe02-469e-8c52-a383c3f5a0c6-2020-06-29T174449.301Z","Aminoacidopathy","","",""
"ASPA","HGNC:756","https://search.clinicalgenome.org/kb/genes/HGNC:756","Canavan disease","MONDO:0010079","https://search.clinicalgenome.org/kb/conditions/MONDO:0010079","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:756","Dosage Working Group","definitive evidence (10/08/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66306eff-659f-4508-a41b-1820e47e0e1d-2020-10-08T161701.633Z","Aminoacidopathy","","",""
"ASPH","HGNC:757","https://search.clinicalgenome.org/kb/genes/HGNC:757","facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome","MONDO:0011106","https://search.clinicalgenome.org/kb/conditions/MONDO:0011106","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:757","Dosage Working Group","","","","","",""
"ASPM","HGNC:19048","https://search.clinicalgenome.org/kb/genes/HGNC:19048","autosomal recessive primary microcephaly","MONDO:0016660","https://search.clinicalgenome.org/kb/conditions/MONDO:0016660","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19048","Dosage Working Group","definitive evidence (03/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41e82e1a-528f-48ee-9e07-22865077f61d-2024-03-14T170000.000Z","Brain Malformations","","",""
"ASS1","HGNC:758","https://search.clinicalgenome.org/kb/genes/HGNC:758","citrullinemia type I","MONDO:0008988","https://search.clinicalgenome.org/kb/conditions/MONDO:0008988","Autosomal recessive inheritance","","","","","definitive evidence (12/27/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5dc5ef32-81ca-478e-be42-436da3416e4d-2018-12-27T170000.000Z","Aminoacidopathy","Strong Actionability (10/26/2020) | Strong Actionability (10/26/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1017 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1017"," | "
"ASTN2","HGNC:17021","https://search.clinicalgenome.org/kb/genes/HGNC:17021","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (03/09/2021)","0 - No Evidence for Triplosensitivity (03/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17021","Dosage Working Group","","","","","",""
"ASXL1","HGNC:18318","https://search.clinicalgenome.org/kb/genes/HGNC:18318","Bohring-Opitz syndrome","MONDO:0011510","https://search.clinicalgenome.org/kb/conditions/MONDO:0011510","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/14/2013)","0 - No Evidence for Triplosensitivity (03/14/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18318","Dosage Working Group","definitive evidence (07/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31e0ce4d-aeb7-4983-9ec2-85178d7f40f0-2021-07-30T160000.000Z","Intellectual Disability and Autism","","",""
"ASXL2","HGNC:23805","https://search.clinicalgenome.org/kb/genes/HGNC:23805","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (06/28/2018)","0 - No Evidence for Triplosensitivity (06/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23805","Dosage Working Group","definitive evidence (09/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cedd313e-b43b-4212-840b-7d4172258b16-2021-09-28T115443.696Z","Intellectual Disability and Autism","","",""
"ASXL3","HGNC:29357","https://search.clinicalgenome.org/kb/genes/HGNC:29357","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/22/2017)","0 - No Evidence for Triplosensitivity (11/22/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29357","Dosage Working Group","definitive evidence (10/06/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_947933aa-f0f8-4909-abd8-2984dd11dcb8-2021-10-06T040000.000Z","Intellectual Disability and Autism","","",""
"ASXL3","HGNC:29357","https://search.clinicalgenome.org/kb/genes/HGNC:29357","severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome","MONDO:0014205","https://search.clinicalgenome.org/kb/conditions/MONDO:0014205","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/22/2017)","0 - No Evidence for Triplosensitivity (11/22/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29357","Dosage Working Group","","","","","",""
"ATCAY","HGNC:779","https://search.clinicalgenome.org/kb/genes/HGNC:779","Cayman type cerebellar ataxia","MONDO:0011025","https://search.clinicalgenome.org/kb/conditions/MONDO:0011025","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:779","Dosage Working Group","","","","","",""
"ATE1","HGNC:782","https://search.clinicalgenome.org/kb/genes/HGNC:782","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal recessive inheritance","","","","","disputing (08/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_091bbd85-831a-4628-92f4-b2487d837eb6-2023-08-14T160000.000Z","Congenital Heart Disease","","",""
"ATF6","HGNC:791","https://search.clinicalgenome.org/kb/genes/HGNC:791","achromatopsia","MONDO:0018852","https://search.clinicalgenome.org/kb/conditions/MONDO:0018852","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (01/12/2017)","0 - No Evidence for Triplosensitivity (01/12/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:791","Dosage Working Group","strong evidence (11/16/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_4842","General Gene Curation","","",""
"ATF6","HGNC:791","https://search.clinicalgenome.org/kb/genes/HGNC:791","ATF6-related retinopathy","MONDO:0100447","https://search.clinicalgenome.org/kb/conditions/MONDO:0100447","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (01/12/2017)","0 - No Evidence for Triplosensitivity (01/12/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:791","Dosage Working Group","definitive evidence (10/07/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_649d690a-8457-4c95-8d27-978daf4ac877-2021-10-07T160000.000Z","Retina","","",""
"ATF6","HGNC:791","https://search.clinicalgenome.org/kb/genes/HGNC:791","achromatopsia 7","MONDO:0014677","https://search.clinicalgenome.org/kb/conditions/MONDO:0014677","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (01/12/2017)","0 - No Evidence for Triplosensitivity (01/12/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:791","Dosage Working Group","","","","","",""
"ATG5","HGNC:589","https://search.clinicalgenome.org/kb/genes/HGNC:589","spinocerebellar ataxia, autosomal recessive 25","MONDO:0033115","https://search.clinicalgenome.org/kb/conditions/MONDO:0033115","Autosomal recessive inheritance","","","","","limited evidence (10/24/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b47796b8-3811-4411-b0f0-5b703755f08b-2025-10-24T160000.000Z","General Inborn Errors of Metabolism","","",""
"ATG7","HGNC:16935","https://search.clinicalgenome.org/kb/genes/HGNC:16935","spinocerebellar ataxia, autosomal recessive 31","MONDO:0030323","https://search.clinicalgenome.org/kb/conditions/MONDO:0030323","Autosomal recessive inheritance","","","","","strong evidence (09/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bfee65a8-cbc9-4f1a-a4f7-5973ecff593d-2022-09-02T160000.000Z","Lysosomal Diseases GCEP","","",""
"ATL1","HGNC:11231","https://search.clinicalgenome.org/kb/genes/HGNC:11231","neuropathy, hereditary sensory, type 1D","MONDO:0013381","https://search.clinicalgenome.org/kb/conditions/MONDO:0013381","Autosomal dominant inheritance","","","","","definitive evidence (02/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c0282d1-5ab4-4a86-b1f6-165a3dbd515a-2022-02-10T020857.711Z","Charcot-Marie-Tooth","","",""
"ATL3","HGNC:24526","https://search.clinicalgenome.org/kb/genes/HGNC:24526","neuropathy, hereditary sensory, type 1F","MONDO:0014286","https://search.clinicalgenome.org/kb/conditions/MONDO:0014286","Autosomal dominant inheritance","","","","","moderate evidence (07/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_132d0be7-2003-43ed-a934-1cf60cf45773-2021-07-13T160000.000Z","Charcot-Marie-Tooth","","",""
"ATM","HGNC:795","https://search.clinicalgenome.org/kb/genes/HGNC:795","ataxia telangiectasia","MONDO:0008840","https://search.clinicalgenome.org/kb/conditions/MONDO:0008840","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/08/2020)","0 - No Evidence for Triplosensitivity (04/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:795","Dosage Working Group","definitive evidence (07/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02a69e27-77dc-41bd-83d2-dda9c224ee43-2021-07-27T205239.729Z","Hereditary Cancer","","",""
"ATM","HGNC:795","https://search.clinicalgenome.org/kb/genes/HGNC:795","ATM-related cancer predisposition","MONDO:0700270","https://search.clinicalgenome.org/kb/conditions/MONDO:0700270","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/08/2020)","0 - No Evidence for Triplosensitivity (04/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:795","Dosage Working Group","definitive evidence (11/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5acbaa2d-bdd3-40dd-b7e4-df0b0204468e-2024-11-22T180000.000Z","Hereditary Cancer","","",""
"ATM","HGNC:795","https://search.clinicalgenome.org/kb/genes/HGNC:795","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/08/2020)","0 - No Evidence for Triplosensitivity (04/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:795","Dosage Working Group","","","","Moderate Actionability (09/19/2017) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/04/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC127 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC127"," | "
"ATP11A","HGNC:13552","https://search.clinicalgenome.org/kb/genes/HGNC:13552","autosomal dominant nonsyndromic hearing loss","MONDO:0019587","https://search.clinicalgenome.org/kb/conditions/MONDO:0019587","Autosomal dominant inheritance","","","","","moderate evidence (05/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d997f862-6a13-4da1-93cb-8fab590f87a8-2025-05-21T160000.000Z","Hearing Loss","","",""
"ATP13A2","HGNC:30213","https://search.clinicalgenome.org/kb/genes/HGNC:30213","Kufor-Rakeb syndrome","MONDO:0011706","https://search.clinicalgenome.org/kb/conditions/MONDO:0011706","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30213","Dosage Working Group","definitive evidence (04/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ba5cb4f-3f7f-44dc-b2a5-0a2d62e510d4-2022-04-14T160000.000Z","Intellectual Disability and Autism","","",""
"ATP13A3","HGNC:24113","https://search.clinicalgenome.org/kb/genes/HGNC:24113","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Semidominant inheritance","","","","","definitive evidence (11/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5024e74a-fe6e-4eb2-89df-d07ff18e439c-2021-11-09T173936.225Z","Pulmonary Hypertension","","",""
"ATP1A1","HGNC:799","https://search.clinicalgenome.org/kb/genes/HGNC:799","Charcot-Marie-tooth disease, axonal, type 2DD","MONDO:0054833","https://search.clinicalgenome.org/kb/conditions/MONDO:0054833","Autosomal dominant inheritance","","","","","moderate evidence (10/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_65182954-6603-4880-85fa-352700bd784b-2022-10-10T160000.000Z","Charcot-Marie-Tooth","","",""
"ATP1A2","HGNC:800","https://search.clinicalgenome.org/kb/genes/HGNC:800","hemiplegic migraine-developmental and epileptic encephalopathy spectrum","MONDO:0100539","https://search.clinicalgenome.org/kb/conditions/MONDO:0100539","Autosomal dominant inheritance","","","","","definitive evidence (01/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe788a45-b8da-4377-acdb-5dd55fcc3130-2024-01-16T200000.000Z","Epilepsy","","",""
"ATP1A2","HGNC:800","https://search.clinicalgenome.org/kb/genes/HGNC:800","fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies","MONDO:0859204","https://search.clinicalgenome.org/kb/conditions/MONDO:0859204","Autosomal recessive inheritance","","","","","definitive evidence (07/01/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb2e7696-8d5d-48a2-892f-c8fad53c65f8-2025-07-01T160000.000Z","Prenatal","","",""
"ATP1A3","HGNC:801","https://search.clinicalgenome.org/kb/genes/HGNC:801","ATP1A3-associated neurological disorder","MONDO:0700002","https://search.clinicalgenome.org/kb/conditions/MONDO:0700002","Autosomal dominant inheritance","","","","","definitive evidence (05/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a572fef-35c5-46dd-8a69-af436b3ecdcc-2022-05-22T063513.942Z","Syndromic Disorders","","",""
"ATP2A1","HGNC:811","https://search.clinicalgenome.org/kb/genes/HGNC:811","Brody myopathy","MONDO:0010977","https://search.clinicalgenome.org/kb/conditions/MONDO:0010977","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:811","Dosage Working Group","","","","","",""
"ATP2B2","HGNC:815","https://search.clinicalgenome.org/kb/genes/HGNC:815","autosomal dominant nonsyndromic hearing loss","MONDO:0019587","https://search.clinicalgenome.org/kb/conditions/MONDO:0019587","Autosomal dominant inheritance","","","","","definitive evidence (07/22/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_193d07d0-5e1a-4ea1-84d6-377eb8fb5e7f-2025-07-22T160000.000Z","Hearing Loss","","",""
"ATP5MK","HGNC:30889","https://search.clinicalgenome.org/kb/genes/HGNC:30889","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (08/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff19a86d-404a-464e-8da6-8824ce45ed20-2020-08-27T164252.070Z","Mitochondrial Diseases","","",""
"ATP5MK","HGNC:30889","https://search.clinicalgenome.org/kb/genes/HGNC:30889","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (04/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b48db69-0e48-47b6-bbd3-4c09ade82a73-2024-04-15T040000.000Z","Mitochondrial Diseases","","",""
"ATP6AP1","HGNC:868","https://search.clinicalgenome.org/kb/genes/HGNC:868","congenital disorder of glycosylation type II","MONDO:0005501","https://search.clinicalgenome.org/kb/conditions/MONDO:0005501","X-linked inheritance","","","","","definitive evidence (05/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6bfce2b-c20c-40f9-b2f5-d81f76a328f7-2024-05-15T160000.000Z","Congenital Disorders of Glycosylation","","",""
"ATP6AP2","HGNC:18305","https://search.clinicalgenome.org/kb/genes/HGNC:18305","ATP6AP2-related disorder","MONDO:0100146","https://search.clinicalgenome.org/kb/conditions/MONDO:0100146","X-linked inheritance","0 - No Evidence for Haploinsufficiency (10/31/2012)","0 - No Evidence for Triplosensitivity (10/31/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18305","Dosage Working Group","definitive evidence (09/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac33652a-dd98-46f4-ba4e-d3d5a482a22e-2020-09-14T160000.000Z","Intellectual Disability and Autism","","",""
"ATP6V0A2","HGNC:18481","https://search.clinicalgenome.org/kb/genes/HGNC:18481","autosomal recessive cutis laxa type 2A","MONDO:0018163","https://search.clinicalgenome.org/kb/conditions/MONDO:0018163","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18481","Dosage Working Group","definitive evidence (04/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67eb6244-012c-48c0-a409-874636825d85-2024-04-03T160000.000Z","Congenital Disorders of Glycosylation","","",""
"ATP6V0A4","HGNC:866","https://search.clinicalgenome.org/kb/genes/HGNC:866","renal tubular acidosis, distal, 3, with or without sensorineural hearing loss","MONDO:0011268","https://search.clinicalgenome.org/kb/conditions/MONDO:0011268","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:866","Dosage Working Group","","","","","",""
"ATP6V1A","HGNC:851","https://search.clinicalgenome.org/kb/genes/HGNC:851","autosomal recessive cutis laxa type 2D","MONDO:0027451","https://search.clinicalgenome.org/kb/conditions/MONDO:0027451","Autosomal recessive inheritance","","","","","limited evidence (04/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f9b7d66a-3d77-4515-aa6b-9f33e59f2f09-2024-04-03T160000.000Z","Congenital Disorders of Glycosylation","","",""
"ATP6V1B1","HGNC:853","https://search.clinicalgenome.org/kb/genes/HGNC:853","renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss","MONDO:0009968","https://search.clinicalgenome.org/kb/conditions/MONDO:0009968","Autosomal recessive inheritance","","","","","definitive evidence (12/19/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c74d3789-9cfc-4be3-b23d-baf610620e6c-2017-12-19T050000.000Z","Hearing Loss","","",""
"ATP6V1E1","HGNC:857","https://search.clinicalgenome.org/kb/genes/HGNC:857","autosomal recessive cutis laxa type 2C","MONDO:0027462","https://search.clinicalgenome.org/kb/conditions/MONDO:0027462","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (04/26/2012)","0 - No Evidence for Triplosensitivity (04/26/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:857","Dosage Working Group","limited evidence (05/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d86dbf9e-ebed-446b-8291-e5838e37fd06-2024-05-01T160000.000Z","Congenital Disorders of Glycosylation","","",""
"ATP7A","HGNC:869","https://search.clinicalgenome.org/kb/genes/HGNC:869","Menkes disease","MONDO:0010651","https://search.clinicalgenome.org/kb/conditions/MONDO:0010651","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/24/2021)","0 - No Evidence for Triplosensitivity (03/24/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:869","Dosage Working Group","definitive evidence (02/07/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bc50734-316b-47db-ba10-61f3fde46cca-2018-02-07T110000.000Z","Intellectual Disability and Autism","Moderate Actionability (01/17/2019)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC013",""
"ATP7A","HGNC:869","https://search.clinicalgenome.org/kb/genes/HGNC:869","X-linked distal spinal muscular atrophy type 3","MONDO:0010338","https://search.clinicalgenome.org/kb/conditions/MONDO:0010338","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/24/2021)","0 - No Evidence for Triplosensitivity (03/24/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:869","Dosage Working Group","moderate evidence (01/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec7c42f3-3cad-4020-aa75-cf103c5381ba-2023-01-10T170000.000Z","Charcot-Marie-Tooth","","",""
"ATP7B","HGNC:870","https://search.clinicalgenome.org/kb/genes/HGNC:870","Wilson disease","MONDO:0010200","https://search.clinicalgenome.org/kb/conditions/MONDO:0010200","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (01/12/2017)","0 - No Evidence for Triplosensitivity (01/12/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:870","Dosage Working Group","definitive evidence (03/27/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0ac0a41-d7d5-4377-a622-1ee9bc4ed9f3-2019-03-27T160000.000Z","General Gene Curation","Definitive Actionability (02/14/2022) | Strong Actionability (02/14/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC028 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC028"," | "
"ATP8A2","HGNC:13533","https://search.clinicalgenome.org/kb/genes/HGNC:13533","cerebellar ataxia, intellectual disability, and dysequilibrium","MONDO:0009133","https://search.clinicalgenome.org/kb/conditions/MONDO:0009133","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/28/2023)","0 - No Evidence for Triplosensitivity (03/28/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13533","Dosage Working Group","definitive evidence (04/03/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6919cb8-703a-4f80-932b-2238f7bc08d6-2025-04-03T160000.000Z","Cerebral Palsy","","",""
"ATP8A2","HGNC:13533","https://search.clinicalgenome.org/kb/genes/HGNC:13533","cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4","MONDO:0014104","https://search.clinicalgenome.org/kb/conditions/MONDO:0014104","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/28/2023)","0 - No Evidence for Triplosensitivity (03/28/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13533","Dosage Working Group","","","","","",""
"ATPAF2","HGNC:18802","https://search.clinicalgenome.org/kb/genes/HGNC:18802","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18802","Dosage Working Group","limited evidence (04/04/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfb2ce05-0eb4-4b98-95e5-e01cac3131ac-2022-04-04T040000.000Z","Mitochondrial Diseases","","",""
"ATPAF2","HGNC:18802","https://search.clinicalgenome.org/kb/genes/HGNC:18802","mitochondrial complex V (ATP synthase) deficiency, nuclear type 1","MONDO:0011421","https://search.clinicalgenome.org/kb/conditions/MONDO:0011421","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18802","Dosage Working Group","","","","","",""
"ATR","HGNC:882","https://search.clinicalgenome.org/kb/genes/HGNC:882","familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome","MONDO:0013806","https://search.clinicalgenome.org/kb/conditions/MONDO:0013806","N/A","1 - Little Evidence for Haploinsufficiency (06/05/2020)","0 - No Evidence for Triplosensitivity (06/05/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:882","Dosage Working Group","","","","","",""
"ATRIP","HGNC:33499","https://search.clinicalgenome.org/kb/genes/HGNC:33499","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","","","","","limited evidence (08/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d3d3117-9df2-4dbf-a925-e6a77945c8b7-2024-08-29T170000.000Z","Hereditary Cancer","","",""
"ATRX","HGNC:886","https://search.clinicalgenome.org/kb/genes/HGNC:886","ATR-X-related syndrome","MONDO:0016980","https://search.clinicalgenome.org/kb/conditions/MONDO:0016980","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/31/2012)","0 - No Evidence for Triplosensitivity (07/31/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:886","Dosage Working Group","definitive evidence (09/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5296ecdf-b709-47bd-9032-daec8b91e300-2021-09-28T220000.000Z","Intellectual Disability and Autism","","",""
"ATRX","HGNC:886","https://search.clinicalgenome.org/kb/genes/HGNC:886","alpha thalassemia-X-linked intellectual disability syndrome","MONDO:0010519","https://search.clinicalgenome.org/kb/conditions/MONDO:0010519","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/31/2012)","0 - No Evidence for Triplosensitivity (07/31/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:886","Dosage Working Group","","","","","",""
"ATXN2","HGNC:10555","https://search.clinicalgenome.org/kb/genes/HGNC:10555","spinocerebellar ataxia type 2","MONDO:0008458","https://search.clinicalgenome.org/kb/conditions/MONDO:0008458","Autosomal dominant inheritance","","","","","definitive evidence (02/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5f9701f-a9a7-4689-9aec-27b3cbb06129-2024-02-13T170000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"AUH","HGNC:890","https://search.clinicalgenome.org/kb/genes/HGNC:890","3-methylglutaconic aciduria type 1","MONDO:0009610","https://search.clinicalgenome.org/kb/conditions/MONDO:0009610","Autosomal recessive inheritance","","","","","definitive evidence (06/29/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_681f6747-37ce-498e-8bb1-eddd55a90e2c-2020-06-29T174231.569Z","Aminoacidopathy","","",""
"AUTS2","HGNC:14262","https://search.clinicalgenome.org/kb/genes/HGNC:14262","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/24/2020)","0 - No Evidence for Triplosensitivity (06/24/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14262","Dosage Working Group","definitive evidence (09/01/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_582999f6-b3b4-46de-90a0-8f44e22df469-2020-09-01T160000.000Z","Intellectual Disability and Autism","","",""
"AUTS2","HGNC:14262","https://search.clinicalgenome.org/kb/genes/HGNC:14262","autism spectrum disorder due to AUTS2 deficiency","MONDO:0014361","https://search.clinicalgenome.org/kb/conditions/MONDO:0014361","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/24/2020)","0 - No Evidence for Triplosensitivity (06/24/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14262","Dosage Working Group","","","","","",""
"AVIL","HGNC:14188","https://search.clinicalgenome.org/kb/genes/HGNC:14188","nephrotic syndrome, type 21","MONDO:0032826","https://search.clinicalgenome.org/kb/conditions/MONDO:0032826","Autosomal recessive inheritance","","","","","limited evidence (08/27/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04806c21-071c-4a74-96c2-ab89ef5ba0e0-2024-08-27T180000.000Z","Glomerulopathy","","",""
"AVPR1A","HGNC:895","https://search.clinicalgenome.org/kb/genes/HGNC:895","autism spectrum disorder","MONDO:0005258","https://search.clinicalgenome.org/kb/conditions/MONDO:0005258","Mode of inheritance","","","","","disputing (03/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ea232de-063f-489a-b00a-8c5d11dbe43a-2022-03-01T110000.000Z","Intellectual Disability and Autism","","",""
"AVPR2","HGNC:897","https://search.clinicalgenome.org/kb/genes/HGNC:897","diabetes insipidus, nephrogenic, X-linked","MONDO:0010581","https://search.clinicalgenome.org/kb/conditions/MONDO:0010581","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/01/2021)","0 - No Evidence for Triplosensitivity (02/01/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:897","Dosage Working Group","","","","","",""
"AXIN2","HGNC:904","https://search.clinicalgenome.org/kb/genes/HGNC:904","oligodontia-cancer predisposition syndrome","MONDO:0012075","https://search.clinicalgenome.org/kb/conditions/MONDO:0012075","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/08/2021)","0 - No Evidence for Triplosensitivity (12/08/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:904","Dosage Working Group","definitive evidence (12/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cb1ae839-6186-44f7-85fe-8642b6c180ba-2023-12-20T180000.000Z","Hereditary Cancer","","",""
"B2M","HGNC:914","https://search.clinicalgenome.org/kb/genes/HGNC:914","hypoproteinemia, hypercatabolic","MONDO:0009434","https://search.clinicalgenome.org/kb/conditions/MONDO:0009434","Autosomal recessive inheritance","","","","","limited evidence (04/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56366640-5981-436e-bfa1-8d1edf14ac3f-2024-04-18T160000.000Z","SCID-CID","","",""
"B3GALNT2","HGNC:28596","https://search.clinicalgenome.org/kb/genes/HGNC:28596","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11","MONDO:0014071","https://search.clinicalgenome.org/kb/conditions/MONDO:0014071","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28596","Dosage Working Group","","","","","",""
"B3GALT6","HGNC:17978","https://search.clinicalgenome.org/kb/genes/HGNC:17978","B3GALT6-congenital disorder of glycosylation","MONDO:0100586","https://search.clinicalgenome.org/kb/conditions/MONDO:0100586","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17978","Dosage Working Group","definitive evidence (04/04/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e67a52c-3e93-4bc2-bbc6-05f8dc9be657-2025-04-04T170000.000Z","Congenital Disorders of Glycosylation","","",""
"B3GALT6","HGNC:17978","https://search.clinicalgenome.org/kb/genes/HGNC:17978","spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures","MONDO:0010075","https://search.clinicalgenome.org/kb/conditions/MONDO:0010075","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17978","Dosage Working Group","","","","","",""
"B4GALNT1","HGNC:4117","https://search.clinicalgenome.org/kb/genes/HGNC:4117","complex hereditary spastic paraplegia","MONDO:0015150","https://search.clinicalgenome.org/kb/conditions/MONDO:0015150","Autosomal recessive inheritance","","","","","definitive evidence (06/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4cabf677-8fa5-4455-831c-1d06dd48c780-2023-06-01T060000.000Z","Cerebral Palsy","","",""
"B4GALT1","HGNC:924","https://search.clinicalgenome.org/kb/genes/HGNC:924","B4GALT1-congenital disorder of glycosylation","MONDO:0011772","https://search.clinicalgenome.org/kb/conditions/MONDO:0011772","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:924","Dosage Working Group","","","","","",""
"B4GALT7","HGNC:930","https://search.clinicalgenome.org/kb/genes/HGNC:930","Ehlers-Danlos syndrome, spondylodysplastic type, 1","MONDO:0020682","https://search.clinicalgenome.org/kb/conditions/MONDO:0020682","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:930","Dosage Working Group","definitive evidence (08/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19ab23bf-37ed-46bc-af9e-d3fc39adaf15-2024-08-05T160000.000Z","Skeletal Disorders","","",""
"B4GAT1","HGNC:15685","https://search.clinicalgenome.org/kb/genes/HGNC:15685","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13","MONDO:0014120","https://search.clinicalgenome.org/kb/conditions/MONDO:0014120","Autosomal recessive inheritance","","","","","moderate evidence (07/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fdad7b1-d881-4d7c-a9ab-34812a92ae24-2025-07-08T190000.000Z","Brain Malformations","","",""
"B9D1","HGNC:24123","https://search.clinicalgenome.org/kb/genes/HGNC:24123","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24123","Dosage Working Group","definitive evidence (05/08/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d682069-b65a-46d5-973a-6b43ba1a80e1-2023-05-08T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"B9D1","HGNC:24123","https://search.clinicalgenome.org/kb/genes/HGNC:24123","Joubert syndrome 27","MONDO:0014927","https://search.clinicalgenome.org/kb/conditions/MONDO:0014927","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24123","Dosage Working Group","","","","","",""
"B9D2","HGNC:28636","https://search.clinicalgenome.org/kb/genes/HGNC:28636","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","moderate evidence (06/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebe1140c-09cc-4d05-8886-5a78267afe65-2023-06-12T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"BAAT","HGNC:932","https://search.clinicalgenome.org/kb/genes/HGNC:932","bile acid CoA:amino acid N-acyltransferase deficiency","MONDO:0100305","https://search.clinicalgenome.org/kb/conditions/MONDO:0100305","Autosomal recessive inheritance","","","","","moderate evidence (06/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b732497-a853-45af-bf8e-b3ad663159f1-2024-06-21T160000.000Z","Peroxisomal Disorders","","",""
"BACH2","HGNC:14078","https://search.clinicalgenome.org/kb/genes/HGNC:14078","immunodeficiency 60","MONDO:0032723","https://search.clinicalgenome.org/kb/conditions/MONDO:0032723","Autosomal dominant inheritance","","","","","moderate evidence (02/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2473560a-6e5c-4342-a6e2-c89e37f4cc71-2023-02-21T180000.000Z","Antibody Deficiencies GCEP","","",""
"BAG3","HGNC:939","https://search.clinicalgenome.org/kb/genes/HGNC:939","myofibrillar myopathy","MONDO:0018943","https://search.clinicalgenome.org/kb/conditions/MONDO:0018943","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/12/2015)","0 - No Evidence for Triplosensitivity (02/12/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:939","Dosage Working Group","definitive evidence (12/18/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5466","General Gene Curation","Has Insufficient Evidence for Actionability Based on Expert Review (09/06/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC155",""
"BAG3","HGNC:939","https://search.clinicalgenome.org/kb/genes/HGNC:939","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/12/2015)","0 - No Evidence for Triplosensitivity (02/12/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:939","Dosage Working Group","definitive evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bec07e1-0186-4f45-bd8e-7d8a0f2547a9-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"BAG3","HGNC:939","https://search.clinicalgenome.org/kb/genes/HGNC:939","myofibrillar myopathy 6","MONDO:0013061","https://search.clinicalgenome.org/kb/conditions/MONDO:0013061","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/12/2015)","0 - No Evidence for Triplosensitivity (02/12/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:939","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Expert Review (09/06/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC155",""
"BAG5","HGNC:941","https://search.clinicalgenome.org/kb/genes/HGNC:941","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","moderate evidence (06/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_97fe83b7-fe12-4014-9706-6847446fa9bd-2024-06-14T160000.000Z","Dilated Cardiomyopathy","","",""
"BANF1","HGNC:17397","https://search.clinicalgenome.org/kb/genes/HGNC:17397","Nestor-Guillermo progeria syndrome","MONDO:0013523","https://search.clinicalgenome.org/kb/conditions/MONDO:0013523","Autosomal recessive inheritance","","","","","limited evidence (04/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e2059e5-b7a5-42fe-93b7-182982608431-2024-04-03T160000.000Z","Syndromic Disorders","","",""
"BAP1","HGNC:950","https://search.clinicalgenome.org/kb/genes/HGNC:950","BAP1-related tumor predisposition syndrome","MONDO:0013692","https://search.clinicalgenome.org/kb/conditions/MONDO:0013692","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/30/2025)","0 - No Evidence for Triplosensitivity (01/30/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:950","Dosage Working Group","definitive evidence (03/21/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d70c33af-2e4f-4489-9c29-797655015b1d-2019-03-21T175713.803Z","Hereditary Cancer","Assertion Pending (07/06/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC139",""
"BARD1","HGNC:952","https://search.clinicalgenome.org/kb/genes/HGNC:952","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/01/2020)","0 - No Evidence for Triplosensitivity (05/01/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:952","Dosage Working Group","disputing (08/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02af8326-360e-4f42-a378-fefff7387d97-2024-08-29T170000.000Z","Hereditary Cancer","","",""
"BARD1","HGNC:952","https://search.clinicalgenome.org/kb/genes/HGNC:952","BARD1-related cancer predisposition","MONDO:0700267","https://search.clinicalgenome.org/kb/conditions/MONDO:0700267","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/01/2020)","0 - No Evidence for Triplosensitivity (05/01/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:952","Dosage Working Group","definitive evidence (09/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09113d8c-ba63-40f1-9c8f-08b67c6c867c-2024-09-03T170000.000Z","Hereditary Cancer","Moderate Actionability (05/14/2024) | Has Insufficient Evidence for Actionability Based on Early Rule-out (09/12/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1054 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1054"," | "
"BARD1","HGNC:952","https://search.clinicalgenome.org/kb/genes/HGNC:952","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/01/2020)","0 - No Evidence for Triplosensitivity (05/01/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:952","Dosage Working Group","","","","","",""
"BAZ2B","HGNC:963","https://search.clinicalgenome.org/kb/genes/HGNC:963","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","limited evidence (10/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be8c5c40-5fe7-4247-b1d2-b11ca339b365-2022-10-19T040000.000Z","Intellectual Disability and Autism","","",""
"BBS1","HGNC:966","https://search.clinicalgenome.org/kb/genes/HGNC:966","BBS1-related ciliopathy","MONDO:1040043","https://search.clinicalgenome.org/kb/conditions/MONDO:1040043","Autosomal recessive inheritance","","","","","definitive evidence (12/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee6e7562-927a-459b-a0f1-ccd849c7e783-2023-12-07T170000.000Z","Retina","","",""
"BBS10","HGNC:26291","https://search.clinicalgenome.org/kb/genes/HGNC:26291","BBS10-related ciliopathy","MONDO:0700237","https://search.clinicalgenome.org/kb/conditions/MONDO:0700237","Autosomal recessive inheritance","","","","","definitive evidence (08/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f9eb490e-1977-426e-ac7a-c507bbc38490-2023-08-03T160000.000Z","Retina","","",""
"BBS12","HGNC:26648","https://search.clinicalgenome.org/kb/genes/HGNC:26648","BBS12-related ciliopathy","MONDO:1040045","https://search.clinicalgenome.org/kb/conditions/MONDO:1040045","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26648","Dosage Working Group","definitive evidence (01/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3aefcbae-bf06-45da-b3be-a550e997257a-2024-01-04T170000.000Z","Retina","","",""
"BBS12","HGNC:26648","https://search.clinicalgenome.org/kb/genes/HGNC:26648","Bardet-Biedl syndrome 12","MONDO:0014440","https://search.clinicalgenome.org/kb/conditions/MONDO:0014440","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26648","Dosage Working Group","","","","","",""
"BBS2","HGNC:967","https://search.clinicalgenome.org/kb/genes/HGNC:967","BBS2-related ciliopathy","MONDO:1040048","https://search.clinicalgenome.org/kb/conditions/MONDO:1040048","Autosomal recessive inheritance","","","","","definitive evidence (03/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be74a060-cfb3-4180-a107-cfaf0e81bfa3-2024-03-07T170000.000Z","Retina","","",""
"BBS4","HGNC:969","https://search.clinicalgenome.org/kb/genes/HGNC:969","BBS4-related ciliopathy","MONDO:1040044","https://search.clinicalgenome.org/kb/conditions/MONDO:1040044","Autosomal recessive inheritance","","","","","definitive evidence (12/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_988d537d-5595-4b8f-bbc4-8e3aefc025fa-2023-12-07T170000.000Z","Retina","","",""
"BBS5","HGNC:970","https://search.clinicalgenome.org/kb/genes/HGNC:970","BBS5-related ciliopathy","MONDO:1040047","https://search.clinicalgenome.org/kb/conditions/MONDO:1040047","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/12/2015)","0 - No Evidence for Triplosensitivity (10/12/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:970","Dosage Working Group","definitive evidence (12/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdb1249e-ab95-4d34-a43f-1dbb09eb3d94-2023-12-07T170000.000Z","Retina","","",""
"BBS5","HGNC:970","https://search.clinicalgenome.org/kb/genes/HGNC:970","Bardet-Biedl syndrome 5","MONDO:0014434","https://search.clinicalgenome.org/kb/conditions/MONDO:0014434","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (10/12/2015)","0 - No Evidence for Triplosensitivity (10/12/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:970","Dosage Working Group","","","","","",""
"BBS7","HGNC:18758","https://search.clinicalgenome.org/kb/genes/HGNC:18758","BBS7-related ciliopathy","MONDO:1040042","https://search.clinicalgenome.org/kb/conditions/MONDO:1040042","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18758","Dosage Working Group","definitive evidence (09/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a09e1836-927c-424d-b10c-fd93f3e6dc6b-2023-09-07T160000.000Z","Retina","","",""
"BBS7","HGNC:18758","https://search.clinicalgenome.org/kb/genes/HGNC:18758","Bardet-Biedl syndrome 7","MONDO:0014435","https://search.clinicalgenome.org/kb/conditions/MONDO:0014435","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18758","Dosage Working Group","","","","","",""
"BBS9","HGNC:30000","https://search.clinicalgenome.org/kb/genes/HGNC:30000","BBS9-related ciliopathy","MONDO:0700236","https://search.clinicalgenome.org/kb/conditions/MONDO:0700236","Autosomal recessive inheritance","","","","","definitive evidence (08/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3fc68f9f-ed7c-453e-8c41-179a9ccad0ca-2023-08-03T160000.000Z","Retina","","",""
"BCAP31","HGNC:16695","https://search.clinicalgenome.org/kb/genes/HGNC:16695","severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome","MONDO:0010334","https://search.clinicalgenome.org/kb/conditions/MONDO:0010334","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/08/2023)","0 - No Evidence for Triplosensitivity (08/08/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16695","Dosage Working Group","definitive evidence (08/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d31d5251-bedd-49e9-b0bb-5ff6923edcf7-2023-08-02T160000.000Z","Intellectual Disability and Autism","","",""
"BCAT2","HGNC:977","https://search.clinicalgenome.org/kb/genes/HGNC:977","hypervalinemia and hyperleucine-isoleucinemia","MONDO:0100058","https://search.clinicalgenome.org/kb/conditions/MONDO:0100058","Autosomal recessive inheritance","","","","","definitive evidence (07/24/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5e16ee6-88c9-4872-8681-dd7fd0156b0f-2020-07-24T172325.905Z","Aminoacidopathy","","",""
"BCHE","HGNC:983","https://search.clinicalgenome.org/kb/genes/HGNC:983","butyrylcholinesterase deficiency","MONDO:0015270","https://search.clinicalgenome.org/kb/conditions/MONDO:0015270","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:983","Dosage Working Group","","","","","",""
"BCKDHA","HGNC:986","https://search.clinicalgenome.org/kb/genes/HGNC:986","maple syrup urine disease type 1A","MONDO:0023691","https://search.clinicalgenome.org/kb/conditions/MONDO:0023691","Autosomal recessive inheritance","","","","","definitive evidence (09/14/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c89a6c7-751a-4a99-8a32-97cc33c5df7c-2018-09-14T160000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDHA","HGNC:986","https://search.clinicalgenome.org/kb/genes/HGNC:986","intermediate maple syrup urine disease","MONDO:0017052","https://search.clinicalgenome.org/kb/conditions/MONDO:0017052","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDHA","HGNC:986","https://search.clinicalgenome.org/kb/genes/HGNC:986","classic maple syrup urine disease","MONDO:0017051","https://search.clinicalgenome.org/kb/conditions/MONDO:0017051","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDHA","HGNC:986","https://search.clinicalgenome.org/kb/genes/HGNC:986","maple syrup urine disease","MONDO:0009563","https://search.clinicalgenome.org/kb/conditions/MONDO:0009563","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDHA","HGNC:986","https://search.clinicalgenome.org/kb/genes/HGNC:986","thiamine-responsive maple syrup urine disease","MONDO:0017054","https://search.clinicalgenome.org/kb/conditions/MONDO:0017054","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDHA","HGNC:986","https://search.clinicalgenome.org/kb/genes/HGNC:986","intermittent maple syrup urine disease","MONDO:0017053","https://search.clinicalgenome.org/kb/conditions/MONDO:0017053","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDHA","HGNC:986","https://search.clinicalgenome.org/kb/genes/HGNC:986","maple syrup urine disease, mild variant","MONDO:0014057","https://search.clinicalgenome.org/kb/conditions/MONDO:0014057","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDHB","HGNC:987","https://search.clinicalgenome.org/kb/genes/HGNC:987","maple syrup urine disease type 1B","MONDO:0023692","https://search.clinicalgenome.org/kb/conditions/MONDO:0023692","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:987","Dosage Working Group","definitive evidence (02/08/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b0d314c-7355-441c-a357-72ba3e566c57-2019-02-08T170000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDHB","HGNC:987","https://search.clinicalgenome.org/kb/genes/HGNC:987","maple syrup urine disease","MONDO:0009563","https://search.clinicalgenome.org/kb/conditions/MONDO:0009563","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:987","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDHB","HGNC:987","https://search.clinicalgenome.org/kb/genes/HGNC:987","thiamine-responsive maple syrup urine disease","MONDO:0017054","https://search.clinicalgenome.org/kb/conditions/MONDO:0017054","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:987","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDHB","HGNC:987","https://search.clinicalgenome.org/kb/genes/HGNC:987","intermediate maple syrup urine disease","MONDO:0017052","https://search.clinicalgenome.org/kb/conditions/MONDO:0017052","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:987","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDHB","HGNC:987","https://search.clinicalgenome.org/kb/genes/HGNC:987","classic maple syrup urine disease","MONDO:0017051","https://search.clinicalgenome.org/kb/conditions/MONDO:0017051","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:987","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDHB","HGNC:987","https://search.clinicalgenome.org/kb/genes/HGNC:987","intermittent maple syrup urine disease","MONDO:0017053","https://search.clinicalgenome.org/kb/conditions/MONDO:0017053","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:987","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDHB","HGNC:987","https://search.clinicalgenome.org/kb/genes/HGNC:987","maple syrup urine disease, mild variant","MONDO:0014057","https://search.clinicalgenome.org/kb/conditions/MONDO:0014057","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:987","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"BCKDK","HGNC:16902","https://search.clinicalgenome.org/kb/genes/HGNC:16902","branched-chain keto acid dehydrogenase kinase deficiency","MONDO:0013970","https://search.clinicalgenome.org/kb/conditions/MONDO:0013970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16902","Dosage Working Group","definitive evidence (01/18/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f90aaad0-b56a-41dc-8d1f-9d12fc66113f-2019-01-18T170000.000Z","Aminoacidopathy","","",""
"BCL10","HGNC:989","https://search.clinicalgenome.org/kb/genes/HGNC:989","immunodeficiency 37","MONDO:0014491","https://search.clinicalgenome.org/kb/conditions/MONDO:0014491","Autosomal recessive inheritance","","","","","definitive evidence (12/29/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2826b3a9-d32b-4d91-8c5d-1a20c408d08d-2022-12-29T180000.000Z","SCID-CID","","",""
"BCL11A","HGNC:13221","https://search.clinicalgenome.org/kb/genes/HGNC:13221","Dias-Logan syndrome","MONDO:0014914","https://search.clinicalgenome.org/kb/conditions/MONDO:0014914","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/13/2017)","0 - No Evidence for Triplosensitivity (04/13/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13221","Dosage Working Group","definitive evidence (09/13/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9630f9a3-3f90-49c6-ae8b-6313c950b1b2-2020-09-13T171807.228Z","Intellectual Disability and Autism","","",""
"BCL11B","HGNC:13222","https://search.clinicalgenome.org/kb/genes/HGNC:13222","intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities","MONDO:0060763","https://search.clinicalgenome.org/kb/conditions/MONDO:0060763","Autosomal dominant inheritance","","","","","definitive evidence (12/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ca4f24f-78dd-4dda-a50d-07dd3d1cef07-2024-12-19T170000.000Z","SCID-CID","","",""
"BCL9","HGNC:1008","https://search.clinicalgenome.org/kb/genes/HGNC:1008","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (09/11/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f45b6e5-4286-40d2-aadf-9b15a62c26df-2023-09-11T160000.000Z","Congenital Heart Disease","","",""
"BCOR","HGNC:20893","https://search.clinicalgenome.org/kb/genes/HGNC:20893","microphthalmia, syndromic 2","MONDO:0010261","https://search.clinicalgenome.org/kb/conditions/MONDO:0010261","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/04/2012)","0 - No Evidence for Triplosensitivity (10/04/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20893","Dosage Working Group","definitive evidence (12/17/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3da06b77-1ed0-4197-948c-a9bbf80b6ed4-2020-12-17T171347.861Z","Syndromic Disorders","","",""
"BCORL1","HGNC:25657","https://search.clinicalgenome.org/kb/genes/HGNC:25657","Shukla-Vernon syndrome","MONDO:0026727","https://search.clinicalgenome.org/kb/conditions/MONDO:0026727","X-linked inheritance","","","","","limited evidence (03/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cc118e0-37b5-408c-9c91-ed0828997a1d-2024-03-05T070000.000Z","Intellectual Disability and Autism","","",""
"BCS1L","HGNC:1020","https://search.clinicalgenome.org/kb/genes/HGNC:1020","Bjornstad syndrome","MONDO:0009872","https://search.clinicalgenome.org/kb/conditions/MONDO:0009872","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1020","Dosage Working Group","definitive evidence (07/09/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a26b6b5-e703-43fc-bcd0-eaff67ef8107-2018-07-09T160000.000Z","Hearing Loss","","",""
"BCS1L","HGNC:1020","https://search.clinicalgenome.org/kb/genes/HGNC:1020","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1020","Dosage Working Group","limited evidence (09/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b50d7db-1144-4187-a60c-72b45adb80bd-2019-09-19T155315.896Z","Mitochondrial Diseases","","",""
"BDP1","HGNC:13652","https://search.clinicalgenome.org/kb/genes/HGNC:13652","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","limited evidence (03/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d300a54b-171c-4445-a138-a24409e99aae-2021-03-26T160000.000Z","Hearing Loss","","",""
"BEST1","HGNC:12703","https://search.clinicalgenome.org/kb/genes/HGNC:12703","BEST1-related dominant retinopathy","MONDO:0700238","https://search.clinicalgenome.org/kb/conditions/MONDO:0700238","Autosomal dominant inheritance","","","","","definitive evidence (08/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_487a42cc-7dd0-4991-ac9d-1346f59073c0-2023-08-03T160000.000Z","Retina","","",""
"BGN","HGNC:1044","https://search.clinicalgenome.org/kb/genes/HGNC:1044","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","","","","","limited evidence (12/22/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8260","Heritable Thoracic Aortic Aneurysm and Dissection","","",""
"BICRA","HGNC:4332","https://search.clinicalgenome.org/kb/genes/HGNC:4332","Coffin-Siris syndrome","MONDO:0015452","https://search.clinicalgenome.org/kb/conditions/MONDO:0015452","Autosomal dominant inheritance","","","","","definitive evidence (11/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2dcc8864-4487-4c5c-b541-cfd972767269-2024-11-20T170000.000Z","Intellectual Disability and Autism","","",""
"BIN1","HGNC:1052","https://search.clinicalgenome.org/kb/genes/HGNC:1052","centronuclear myopathy","MONDO:0018947","https://search.clinicalgenome.org/kb/conditions/MONDO:0018947","Autosomal recessive inheritance | Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1052","Dosage Working Group","definitive evidence (06/10/2024) | limited evidence (06/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d04cc64-0994-4579-99d5-bd2b89710173-2024-06-10T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bb963a9-ec8a-4966-93bb-4f8ef6f8f8a1-2024-06-10T160000.000Z","Congenital Myopathies | Congenital Myopathies","","",""
"BIN1","HGNC:1052","https://search.clinicalgenome.org/kb/genes/HGNC:1052","myopathy, centronuclear, 2","MONDO:0009709","https://search.clinicalgenome.org/kb/conditions/MONDO:0009709","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1052","Dosage Working Group","","","","","",""
"BLK","HGNC:1057","https://search.clinicalgenome.org/kb/genes/HGNC:1057","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Autosomal dominant inheritance","","","","","refuting evidence (01/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_072e29f7-db97-40d9-9280-819706203c24-2023-01-17T170000.000Z","Monogenic Diabetes","","",""
"BLM","HGNC:1058","https://search.clinicalgenome.org/kb/genes/HGNC:1058","Bloom syndrome","MONDO:0008876","https://search.clinicalgenome.org/kb/conditions/MONDO:0008876","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/09/2022)","0 - No Evidence for Triplosensitivity (02/09/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1058","Dosage Working Group","definitive evidence (04/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0a20b67-5a62-462c-894b-76b60a66e979-2019-04-19T160000.000Z","Hereditary Cancer","","",""
"BLM","HGNC:1058","https://search.clinicalgenome.org/kb/genes/HGNC:1058","colorectal cancer","MONDO:0005575","https://search.clinicalgenome.org/kb/conditions/MONDO:0005575","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/09/2022)","0 - No Evidence for Triplosensitivity (02/09/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1058","Dosage Working Group","limited evidence (11/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37bc882f-34c6-4aea-afea-7b6f037ed9a7-2024-11-22T180000.000Z","Hereditary Cancer","","",""
"BLNK","HGNC:14211","https://search.clinicalgenome.org/kb/genes/HGNC:14211","agammaglobulinemia 4, autosomal recessive","MONDO:0013289","https://search.clinicalgenome.org/kb/conditions/MONDO:0013289","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14211","Dosage Working Group","definitive evidence (03/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e1d2e1b-52a6-4371-9055-0e1cc74da39d-2021-03-16T132748.373Z","Antibody Deficiencies GCEP","","",""
"BLOC1S3","HGNC:20914","https://search.clinicalgenome.org/kb/genes/HGNC:20914","Hermansky-Pudlak syndrome 8","MONDO:0013560","https://search.clinicalgenome.org/kb/conditions/MONDO:0013560","Autosomal recessive inheritance","","","","","moderate evidence (04/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdeec503-f903-4507-89e7-33c9255b5ad1-2025-04-07T160000.000Z","Hemostasis Thrombosis","","",""
"BLOC1S5","HGNC:18561","https://search.clinicalgenome.org/kb/genes/HGNC:18561","Hermansky-Pudlak syndrome 11","MONDO:0030903","https://search.clinicalgenome.org/kb/conditions/MONDO:0030903","Autosomal recessive inheritance","","","","","definitive evidence (09/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_85cca8f5-d263-42c4-b84a-2d49deeee682-2023-09-06T160000.000Z","Hemostasis Thrombosis","","",""
"BLOC1S6","HGNC:8549","https://search.clinicalgenome.org/kb/genes/HGNC:8549","Hermansky-Pudlak syndrome 9","MONDO:0013606","https://search.clinicalgenome.org/kb/conditions/MONDO:0013606","Autosomal recessive inheritance","","","","","definitive evidence (05/25/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_984682a2-afb9-48b3-afe8-20e0f633022d-2022-05-25T165516.466Z","Hemostasis Thrombosis","","",""
"BLVRA","HGNC:1062","https://search.clinicalgenome.org/kb/genes/HGNC:1062","hyperbiliverdinemia","MONDO:0013595","https://search.clinicalgenome.org/kb/conditions/MONDO:0013595","Autosomal recessive inheritance","","","","","moderate evidence (01/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de6e575f-6a04-45fb-a9b5-0b21c9e6a7a8-2025-01-10T170000.000Z","General Inborn Errors of Metabolism","","",""
"BMP10","HGNC:20869","https://search.clinicalgenome.org/kb/genes/HGNC:20869","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","limited evidence (10/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98be8b85-16ad-46d3-9736-2b240803da21-2022-10-18T160000.000Z","Pulmonary Hypertension","","",""
"BMP10","HGNC:20869","https://search.clinicalgenome.org/kb/genes/HGNC:20869","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (09/11/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1da0a68-cf08-4de9-8461-0808826679bd-2023-09-11T160000.000Z","Congenital Heart Disease","","",""
"BMP4","HGNC:1071","https://search.clinicalgenome.org/kb/genes/HGNC:1071","BMP4-related ocular growth disorder","MONDO:0100613","https://search.clinicalgenome.org/kb/conditions/MONDO:0100613","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/23/2025)","0 - No Evidence for Triplosensitivity (04/23/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1071","Dosage Working Group","definitive evidence (02/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e7832a8-8a0b-4719-aaf9-1cbdcc392776-2025-02-20T200000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"BMP4","HGNC:1071","https://search.clinicalgenome.org/kb/genes/HGNC:1071","microphthalmia with brain and digit anomalies","MONDO:0011936","https://search.clinicalgenome.org/kb/conditions/MONDO:0011936","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/23/2025)","0 - No Evidence for Triplosensitivity (04/23/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1071","Dosage Working Group","","","","","",""
"BMP6","HGNC:1073","https://search.clinicalgenome.org/kb/genes/HGNC:1073","iron overload, susceptibility to","MONDO:0859316","https://search.clinicalgenome.org/kb/conditions/MONDO:0859316","Autosomal dominant inheritance","","","","","limited evidence (06/06/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61e1d5f4-7b1a-4abc-89e7-9ce04b34e2a9-2025-06-06T170000.000Z","General Inborn Errors of Metabolism","","",""
"BMPER","HGNC:24154","https://search.clinicalgenome.org/kb/genes/HGNC:24154","diaphanospondylodysostosis","MONDO:0011946","https://search.clinicalgenome.org/kb/conditions/MONDO:0011946","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24154","Dosage Working Group","","","","","",""
"BMPR1A","HGNC:1076","https://search.clinicalgenome.org/kb/genes/HGNC:1076","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Mode of inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/24/2020)","0 - No Evidence for Triplosensitivity (06/24/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1076","Dosage Working Group","disputing (10/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e810879d-f635-4851-b20e-86998b000fcc-2022-10-18T160000.000Z","Pulmonary Hypertension","","",""
"BMPR1A","HGNC:1076","https://search.clinicalgenome.org/kb/genes/HGNC:1076","juvenile polyposis syndrome","MONDO:0017380","https://search.clinicalgenome.org/kb/conditions/MONDO:0017380","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/24/2020)","0 - No Evidence for Triplosensitivity (06/24/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1076","Dosage Working Group","definitive evidence (12/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7004b10e-0eb6-4517-8deb-2d4b7264d2f8-2022-12-30T180000.000Z","Hereditary Cancer","Moderate Actionability (10/17/2022) | Strong Actionability (10/17/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC066 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC066"," | "
"BMPR1A","HGNC:1076","https://search.clinicalgenome.org/kb/genes/HGNC:1076","generalized juvenile polyposis/juvenile polyposis coli","MONDO:0008276","https://search.clinicalgenome.org/kb/conditions/MONDO:0008276","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/24/2020)","0 - No Evidence for Triplosensitivity (06/24/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1076","Dosage Working Group","","","","Moderate Actionability (10/17/2022) | Strong Actionability (10/17/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC066 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC066"," | "
"BMPR1B","HGNC:1077","https://search.clinicalgenome.org/kb/genes/HGNC:1077","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Mode of inheritance","","","","","disputing (10/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a21917a1-31d3-42dd-b6d3-ea5fa6edd6c1-2022-10-18T160000.000Z","Pulmonary Hypertension","","",""
"BMPR2","HGNC:1078","https://search.clinicalgenome.org/kb/genes/HGNC:1078","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","0 - No Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1078","Dosage Working Group","definitive evidence (12/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a20ce78b-18ba-436c-877e-a08d092ac7c7-2020-12-07T172318.621Z","Pulmonary Hypertension","","",""
"BMPR2","HGNC:1078","https://search.clinicalgenome.org/kb/genes/HGNC:1078","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","0 - No Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1078","Dosage Working Group","limited evidence (09/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b4322da-10a2-46c4-be0c-b5163ab5f401-2023-09-18T160000.000Z","Congenital Heart Disease","","",""
"BMPR2","HGNC:1078","https://search.clinicalgenome.org/kb/genes/HGNC:1078","obsolete idiopathic and/or familial pulmonary arterial hypertension","MONDO:0008347","https://search.clinicalgenome.org/kb/conditions/MONDO:0008347","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","0 - No Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1078","Dosage Working Group","","","","Moderate Actionability (09/11/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC146",""
"BMPR2","HGNC:1078","https://search.clinicalgenome.org/kb/genes/HGNC:1078","pulmonary hypertension, primary, 1","MONDO:0024533","https://search.clinicalgenome.org/kb/conditions/MONDO:0024533","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","0 - No Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1078","Dosage Working Group","","","","Moderate Actionability (09/11/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC146",""
"BMPR2","HGNC:1078","https://search.clinicalgenome.org/kb/genes/HGNC:1078","primary pulmonary hypertension","MONDO:0001999","https://search.clinicalgenome.org/kb/conditions/MONDO:0001999","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","0 - No Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1078","Dosage Working Group","","","","Moderate Actionability (09/11/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC146",""
"BOLA3","HGNC:24415","https://search.clinicalgenome.org/kb/genes/HGNC:24415","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (07/24/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e6c6964-bbb5-4101-abbb-782eb01b0f33-2023-07-24T040000.000Z","Mitochondrial Diseases","","",""
"BPNT2","HGNC:26019","https://search.clinicalgenome.org/kb/genes/HGNC:26019","chondrodysplasia with joint dislocations, gPAPP type","MONDO:0013561","https://search.clinicalgenome.org/kb/conditions/MONDO:0013561","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26019","Dosage Working Group","moderate evidence (05/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0edef29-df91-4320-b66d-4cc6a4ec3f94-2024-05-16T160000.000Z","Congenital Disorders of Glycosylation","","",""
"BPTF","HGNC:3581","https://search.clinicalgenome.org/kb/genes/HGNC:3581","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/12/2022)","0 - No Evidence for Triplosensitivity (07/12/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3581","Dosage Working Group","definitive evidence (07/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08521bf8-a5a2-4a44-941b-12d9eae7aa4f-2022-07-06T160000.000Z","Intellectual Disability and Autism","","",""
"BRAF","HGNC:1097","https://search.clinicalgenome.org/kb/genes/HGNC:1097","cardiofaciocutaneous syndrome","MONDO:0015280","https://search.clinicalgenome.org/kb/conditions/MONDO:0015280","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/24/2025)","0 - No Evidence for Triplosensitivity (09/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1097","Dosage Working Group","definitive evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a53e5a92-126f-4b00-a89b-af55d4f342ca-2018-07-24T160000.000Z","RASopathy","","",""
"BRAF","HGNC:1097","https://search.clinicalgenome.org/kb/genes/HGNC:1097","Noonan syndrome with multiple lentigines","MONDO:0007893","https://search.clinicalgenome.org/kb/conditions/MONDO:0007893","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/24/2025)","0 - No Evidence for Triplosensitivity (09/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1097","Dosage Working Group","limited evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_888875a8-5654-486b-8e64-e1382ccc6650-2018-07-24T160000.000Z","RASopathy","","",""
"BRAF","HGNC:1097","https://search.clinicalgenome.org/kb/genes/HGNC:1097","Costello syndrome","MONDO:0009026","https://search.clinicalgenome.org/kb/conditions/MONDO:0009026","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/24/2025)","0 - No Evidence for Triplosensitivity (09/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1097","Dosage Working Group","disputing (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f229eceb-8f5e-4ecb-a484-7863b8dc7d19-2018-07-24T160000.000Z","RASopathy","","",""
"BRAF","HGNC:1097","https://search.clinicalgenome.org/kb/genes/HGNC:1097","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/24/2025)","0 - No Evidence for Triplosensitivity (09/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1097","Dosage Working Group","moderate evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47cf08d5-efc6-4d42-b031-a06619873161-2018-07-24T160000.000Z","RASopathy","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"BRAF","HGNC:1097","https://search.clinicalgenome.org/kb/genes/HGNC:1097","Noonan syndrome 7","MONDO:0013379","https://search.clinicalgenome.org/kb/conditions/MONDO:0013379","N/A","0 - No Evidence for Haploinsufficiency (09/24/2025)","0 - No Evidence for Triplosensitivity (09/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1097","Dosage Working Group","","","","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"BRAT1","HGNC:21701","https://search.clinicalgenome.org/kb/genes/HGNC:21701","neurodevelopmental disorder with cerebellar atrophy and with or without seizures","MONDO:0020841","https://search.clinicalgenome.org/kb/conditions/MONDO:0020841","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21701","Dosage Working Group","definitive evidence (09/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93a7b6f1-75e5-4f97-be9d-62fb5770b8cb-2022-09-06T170000.000Z","Epilepsy","","",""
"BRAT1","HGNC:21701","https://search.clinicalgenome.org/kb/genes/HGNC:21701","neonatal-onset encephalopathy with rigidity and seizures","MONDO:0013784","https://search.clinicalgenome.org/kb/conditions/MONDO:0013784","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21701","Dosage Working Group","definitive evidence (09/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_698a4cb3-df52-432b-9d3e-d3d76111db25-2022-09-13T170000.000Z","Epilepsy","","",""
"BRCA1","HGNC:1100","https://search.clinicalgenome.org/kb/genes/HGNC:1100","Fanconi anemia, complementation group S","MONDO:0054748","https://search.clinicalgenome.org/kb/conditions/MONDO:0054748","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/23/2021)","0 - No Evidence for Triplosensitivity (09/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1100","Dosage Working Group","definitive evidence (05/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa39798d-9b6e-430d-8bc1-2a01f81f1f72-2020-05-14T003137.538Z","Hereditary Cancer","","",""
"BRCA1","HGNC:1100","https://search.clinicalgenome.org/kb/genes/HGNC:1100","BRCA1-related cancer predisposition","MONDO:0700268","https://search.clinicalgenome.org/kb/conditions/MONDO:0700268","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/23/2021)","0 - No Evidence for Triplosensitivity (09/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1100","Dosage Working Group","definitive evidence (08/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f31f200-3b65-4cfd-80c8-bd7d3cc216b8-2024-08-29T170000.000Z","Hereditary Cancer","Definitive Actionability (01/28/2014) | Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC133 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC133"," | "
"BRCA1","HGNC:1100","https://search.clinicalgenome.org/kb/genes/HGNC:1100","breast-ovarian cancer, familial, susceptibility to, 1","MONDO:0011450","https://search.clinicalgenome.org/kb/conditions/MONDO:0011450","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/23/2021)","0 - No Evidence for Triplosensitivity (09/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1100","Dosage Working Group","","","","Definitive Actionability (01/28/2014) | Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC133 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC133"," | "
"BRCA1","HGNC:1100","https://search.clinicalgenome.org/kb/genes/HGNC:1100","hereditary breast ovarian cancer syndrome","MONDO:0003582","https://search.clinicalgenome.org/kb/conditions/MONDO:0003582","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/23/2021)","0 - No Evidence for Triplosensitivity (09/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1100","Dosage Working Group","","","","Definitive Actionability (01/28/2014) | Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC133 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC133"," | "
"BRCA2","HGNC:1101","https://search.clinicalgenome.org/kb/genes/HGNC:1101","Fanconi anemia complementation group D1","MONDO:0011584","https://search.clinicalgenome.org/kb/conditions/MONDO:0011584","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/14/2021)","0 - No Evidence for Triplosensitivity (07/14/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1101","Dosage Working Group","definitive evidence (04/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48faf04b-ffc4-4163-8570-22f5c29c4064-2019-04-19T160000.000Z","Hereditary Cancer","Moderate Actionability (10/28/2019) | Moderate Actionability (10/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1008 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1008"," | "
"BRCA2","HGNC:1101","https://search.clinicalgenome.org/kb/genes/HGNC:1101","BRCA2-related cancer predisposition","MONDO:0700269","https://search.clinicalgenome.org/kb/conditions/MONDO:0700269","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/14/2021)","0 - No Evidence for Triplosensitivity (07/14/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1101","Dosage Working Group","definitive evidence (08/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e504fdc-d8b1-474e-8f01-d1b1f8267c79-2024-08-29T170000.000Z","Hereditary Cancer","Definitive Actionability (01/28/2014) | Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC133 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC133"," | "
"BRCA2","HGNC:1101","https://search.clinicalgenome.org/kb/genes/HGNC:1101","breast-ovarian cancer, familial, susceptibility to, 2","MONDO:0012933","https://search.clinicalgenome.org/kb/conditions/MONDO:0012933","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/14/2021)","0 - No Evidence for Triplosensitivity (07/14/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1101","Dosage Working Group","","","","Definitive Actionability (01/28/2014) | Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC133 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC133"," | "
"BRCA2","HGNC:1101","https://search.clinicalgenome.org/kb/genes/HGNC:1101","hereditary breast ovarian cancer syndrome","MONDO:0003582","https://search.clinicalgenome.org/kb/conditions/MONDO:0003582","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/14/2021)","0 - No Evidence for Triplosensitivity (07/14/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1101","Dosage Working Group","","","","Definitive Actionability (01/28/2014) | Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC133 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC133"," | "
"BRCA2","HGNC:1101","https://search.clinicalgenome.org/kb/genes/HGNC:1101","Fanconi anemia","MONDO:0019391","https://search.clinicalgenome.org/kb/conditions/MONDO:0019391","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/14/2021)","0 - No Evidence for Triplosensitivity (07/14/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1101","Dosage Working Group","","","","Moderate Actionability (10/28/2019) | Moderate Actionability (10/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1008 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1008"," | "
"BRD4","HGNC:13575","https://search.clinicalgenome.org/kb/genes/HGNC:13575","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","","","","","definitive evidence (04/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b28cda3-bce6-4a8f-b359-0ab398a1111d-2022-04-20T160000.000Z","Intellectual Disability and Autism","","",""
"BRIP1","HGNC:20473","https://search.clinicalgenome.org/kb/genes/HGNC:20473","Fanconi anemia complementation group J","MONDO:0012187","https://search.clinicalgenome.org/kb/conditions/MONDO:0012187","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/09/2025)","0 - No Evidence for Triplosensitivity (10/09/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20473","Dosage Working Group","definitive evidence (08/18/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40aae4ea-8c9b-42a7-9d02-0f52a184712f-2019-08-18T160442.255Z","Hereditary Cancer","Moderate Actionability (10/28/2019) | Moderate Actionability (10/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1008 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1008"," | "
"BRIP1","HGNC:20473","https://search.clinicalgenome.org/kb/genes/HGNC:20473","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/09/2025)","0 - No Evidence for Triplosensitivity (10/09/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20473","Dosage Working Group","definitive evidence (12/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1224a6d-5676-4109-b844-a577bd0bff62-2023-12-20T180000.000Z","Hereditary Cancer","Assertion Pending (03/17/2017) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/04/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC136 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC136"," | "
"BRIP1","HGNC:20473","https://search.clinicalgenome.org/kb/genes/HGNC:20473","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/09/2025)","0 - No Evidence for Triplosensitivity (10/09/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20473","Dosage Working Group","refuting evidence (12/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_87aa8181-721b-4583-98cf-0dead1827e27-2023-12-21T180000.000Z","Hereditary Cancer","","",""
"BRIP1","HGNC:20473","https://search.clinicalgenome.org/kb/genes/HGNC:20473","Fanconi anemia","MONDO:0019391","https://search.clinicalgenome.org/kb/conditions/MONDO:0019391","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/09/2025)","0 - No Evidence for Triplosensitivity (10/09/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20473","Dosage Working Group","","","","Moderate Actionability (10/28/2019) | Moderate Actionability (10/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1008 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1008"," | "
"BRPF1","HGNC:14255","https://search.clinicalgenome.org/kb/genes/HGNC:14255","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/23/2023)","0 - No Evidence for Triplosensitivity (08/23/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14255","Dosage Working Group","definitive evidence (04/15/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca6ab404-7df4-475b-bb61-b056716dce7b-2025-04-15T160000.000Z","Intellectual Disability and Autism","","",""
"BRPF1","HGNC:14255","https://search.clinicalgenome.org/kb/genes/HGNC:14255","intellectual developmental disorder with dysmorphic facies and ptosis","MONDO:0015022","https://search.clinicalgenome.org/kb/conditions/MONDO:0015022","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/23/2023)","0 - No Evidence for Triplosensitivity (08/23/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14255","Dosage Working Group","","","","","",""
"BRSK2","HGNC:11405","https://search.clinicalgenome.org/kb/genes/HGNC:11405","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (02/03/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_327881a5-52fd-42bd-a500-c94514a7aed3-2021-02-03T170000.000Z","Intellectual Disability and Autism","","",""
"BRWD1","HGNC:12760","https://search.clinicalgenome.org/kb/genes/HGNC:12760","primary ciliary dyskinesia","MONDO:0016575","https://search.clinicalgenome.org/kb/conditions/MONDO:0016575","Autosomal recessive inheritance","","","","","disputing (11/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f74ee87-e640-4604-9bb7-e7617907f92c-2022-11-10T110000.000Z","Motile Ciliopathy GCEP","","",""
"BRWD1","HGNC:12760","https://search.clinicalgenome.org/kb/genes/HGNC:12760","agammaglobulinemia","MONDO:0015977","https://search.clinicalgenome.org/kb/conditions/MONDO:0015977","Autosomal dominant inheritance","","","","","limited evidence (12/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a44471f3-0951-4456-955d-916b691e59f5-2022-12-08T170000.000Z","Antibody Deficiencies GCEP","","",""
"BRWD3","HGNC:17342","https://search.clinicalgenome.org/kb/genes/HGNC:17342","X-linked syndromic intellectual disability","MONDO:0020119","https://search.clinicalgenome.org/kb/conditions/MONDO:0020119","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/24/2022)","0 - No Evidence for Triplosensitivity (08/24/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17342","Dosage Working Group","definitive evidence (07/17/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8a924e2-e76b-4363-bf38-d95fd53d6141-2018-07-17T220000.000Z","Intellectual Disability and Autism","","",""
"BRWD3","HGNC:17342","https://search.clinicalgenome.org/kb/genes/HGNC:17342","X-linked intellectual disability","MONDO:0100284","https://search.clinicalgenome.org/kb/conditions/MONDO:0100284","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/24/2022)","0 - No Evidence for Triplosensitivity (08/24/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17342","Dosage Working Group","","","","","",""
"BSCL2","HGNC:15832","https://search.clinicalgenome.org/kb/genes/HGNC:15832","distal hereditary motor neuropathy","MONDO:0018894","https://search.clinicalgenome.org/kb/conditions/MONDO:0018894","Autosomal dominant inheritance","","","","","definitive evidence (09/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02472719-c26d-40ff-8ad4-897ef7a6800a-2022-09-23T160000.000Z","Charcot-Marie-Tooth","","",""
"BSCL2","HGNC:15832","https://search.clinicalgenome.org/kb/genes/HGNC:15832","lipodystrophy","MONDO:0006573","https://search.clinicalgenome.org/kb/conditions/MONDO:0006573","Autosomal recessive inheritance","","","","","definitive evidence (11/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6b2f631-aedd-4396-8170-a1878ccac459-2024-11-13T170000.000Z","Monogenic Diabetes","","",""
"BSND","HGNC:16512","https://search.clinicalgenome.org/kb/genes/HGNC:16512","Bartter disease type 4A","MONDO:0011242","https://search.clinicalgenome.org/kb/conditions/MONDO:0011242","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/17/2012)","0 - No Evidence for Triplosensitivity (05/17/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16512","Dosage Working Group","definitive evidence (07/10/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b69acb1-93bc-4bc0-8a33-77bf64179c32-2018-07-10T160000.000Z","Hearing Loss","","",""
"BTD","HGNC:1122","https://search.clinicalgenome.org/kb/genes/HGNC:1122","biotinidase deficiency","MONDO:0009665","https://search.clinicalgenome.org/kb/conditions/MONDO:0009665","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/21/2015)","0 - No Evidence for Triplosensitivity (05/21/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1122","Dosage Working Group","definitive evidence (02/10/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_847f7f2b-575f-4a90-bf02-179d464e4841-2020-02-10T180000.000Z","Hearing Loss","Definitive Actionability (05/31/2022) | Limited Actionability (05/31/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC098 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC098"," | "
"BTD","HGNC:1122","https://search.clinicalgenome.org/kb/genes/HGNC:1122","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/21/2015)","0 - No Evidence for Triplosensitivity (05/21/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1122","Dosage Working Group","moderate evidence (06/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_74599afe-02f9-4225-9e50-63306f04a552-2021-06-14T140327.018Z","Mitochondrial Diseases","","",""
"BTD","HGNC:1122","https://search.clinicalgenome.org/kb/genes/HGNC:1122","multiple carboxylase deficiency","MONDO:0015454","https://search.clinicalgenome.org/kb/conditions/MONDO:0015454","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (05/21/2015)","0 - No Evidence for Triplosensitivity (05/21/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1122","Dosage Working Group","","","","Definitive Actionability (05/31/2022) | Limited Actionability (05/31/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC098 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC098"," | "
"BTK","HGNC:1133","https://search.clinicalgenome.org/kb/genes/HGNC:1133","isolated growth hormone deficiency type III","MONDO:0010615","https://search.clinicalgenome.org/kb/conditions/MONDO:0010615","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/24/2021)","0 - No Evidence for Triplosensitivity (03/24/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1133","Dosage Working Group","disputing (11/17/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6341781b-9ba9-41b1-889a-8d65a9b3ebb7-2020-11-17T170000.000Z","Antibody Deficiencies GCEP","","",""
"BTK","HGNC:1133","https://search.clinicalgenome.org/kb/genes/HGNC:1133","Bruton-type agammaglobulinemia","MONDO:0010421","https://search.clinicalgenome.org/kb/conditions/MONDO:0010421","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/24/2021)","0 - No Evidence for Triplosensitivity (03/24/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1133","Dosage Working Group","definitive evidence (10/20/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8dc4d594-2103-46ad-a786-f4bda9b95995-2020-10-20T160000.000Z","Antibody Deficiencies GCEP","","",""
"BUB1","HGNC:1148","https://search.clinicalgenome.org/kb/genes/HGNC:1148","colorectal cancer","MONDO:0005575","https://search.clinicalgenome.org/kb/conditions/MONDO:0005575","Autosomal dominant inheritance","","","","","limited evidence (12/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_018019f0-2a13-42e7-9a03-b7eac3a4c483-2023-12-20T180000.000Z","Hereditary Cancer","","",""
"BUB1B","HGNC:1149","https://search.clinicalgenome.org/kb/genes/HGNC:1149","mosaic variegated aneuploidy syndrome 1","MONDO:0009759","https://search.clinicalgenome.org/kb/conditions/MONDO:0009759","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/02/2022)","0 - No Evidence for Triplosensitivity (02/02/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1149","Dosage Working Group","definitive evidence (11/22/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59147f27-d5a3-4760-ba8d-0429bae3c906-2019-11-22T145326.352Z","Hereditary Cancer","","",""
"C19orf12","HGNC:25443","https://search.clinicalgenome.org/kb/genes/HGNC:25443","neurodegeneration with brain iron accumulation 4","MONDO:0013674","https://search.clinicalgenome.org/kb/conditions/MONDO:0013674","Autosomal dominant inheritance | Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25443","Dosage Working Group","moderate evidence (02/28/2023) | definitive evidence (02/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c78e8a8a-49db-40f5-96a3-d126a3834976-2023-02-28T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20b64ab8-0b48-40d4-8ef5-b3d251e4bec0-2023-02-28T170000.000Z","Syndromic Disorders | Syndromic Disorders","","",""
"C1GALT1C1","HGNC:24338","https://search.clinicalgenome.org/kb/genes/HGNC:24338","hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature","MONDO:0957495","https://search.clinicalgenome.org/kb/conditions/MONDO:0957495","X-linked inheritance","","","","","limited evidence (01/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a5ca158-bc76-49f8-84a0-fc60e6b13fdb-2025-01-28T050000.000Z","Congenital Disorders of Glycosylation","","",""
"C1QA","HGNC:1241","https://search.clinicalgenome.org/kb/genes/HGNC:1241","systemic lupus erythematosus related to C1QA","MONDO:1060174","https://search.clinicalgenome.org/kb/conditions/MONDO:1060174","Autosomal recessive inheritance","","","","","definitive evidence (03/12/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e3e3709-6ee5-4439-a8b8-9838133ca7f2-2025-03-12T190000.000Z","Monogenic Systemic and Incomplete Lupus Erythematosus","","",""
"C1QB","HGNC:1242","https://search.clinicalgenome.org/kb/genes/HGNC:1242","C1Q deficiency","MONDO:0013343","https://search.clinicalgenome.org/kb/conditions/MONDO:0013343","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (01/17/2017)","0 - No Evidence for Triplosensitivity (01/17/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1242","Dosage Working Group","definitive evidence (01/09/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3216","General Gene Curation","","",""
"C1QBP","HGNC:1243","https://search.clinicalgenome.org/kb/genes/HGNC:1243","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (08/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e98e3a8-77f2-4011-96cb-6bcc54f36a8b-2022-08-15T160000.000Z","Mitochondrial Diseases","","",""
"C1QTNF5","HGNC:14344","https://search.clinicalgenome.org/kb/genes/HGNC:14344","inherited retinal dystrophy","MONDO:0019118","https://search.clinicalgenome.org/kb/conditions/MONDO:0019118","Autosomal dominant inheritance","","","","","definitive evidence (09/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ac4ac55-5f45-4ca8-ab83-7065e31f4efc-2024-09-05T160000.000Z","Retina","","",""
"C2CD3","HGNC:24564","https://search.clinicalgenome.org/kb/genes/HGNC:24564","orofaciodigital syndrome type 14","MONDO:0014413","https://search.clinicalgenome.org/kb/conditions/MONDO:0014413","Autosomal recessive inheritance","","","","","definitive evidence (05/24/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca993ab8-029f-46f6-9fc5-ffc1f54cb120-2023-05-24T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"C3","HGNC:1318","https://search.clinicalgenome.org/kb/genes/HGNC:1318","atypical hemolytic-uremic syndrome with C3 anomaly","MONDO:0013043","https://search.clinicalgenome.org/kb/conditions/MONDO:0013043","Autosomal dominant inheritance","","","","","definitive evidence (09/29/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78a4d83e-8fb0-4b47-9dfc-5dfe618e1aa3-2023-09-29T160000.000Z","Complement-Mediated Kidney Diseases","","",""
"C3","HGNC:1318","https://search.clinicalgenome.org/kb/genes/HGNC:1318","C3 glomerulonephritis","MONDO:0013892","https://search.clinicalgenome.org/kb/conditions/MONDO:0013892","Autosomal dominant inheritance","","","","","moderate evidence (03/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e000b88-9487-46a6-830a-7a613152853d-2024-03-29T160000.000Z","Complement-Mediated Kidney Diseases","","",""
"C9orf72","HGNC:28337","https://search.clinicalgenome.org/kb/genes/HGNC:28337","frontotemporal dementia and/or amyotrophic lateral sclerosis 1","MONDO:0007105","https://search.clinicalgenome.org/kb/conditions/MONDO:0007105","Autosomal dominant inheritance","","","","","definitive evidence (09/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afd5a267-72c8-4a04-8404-4c819efe61c5-2021-09-21T030209.665Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"CA12","HGNC:1371","https://search.clinicalgenome.org/kb/genes/HGNC:1371","isolated hyperchlorhidrosis","MONDO:0007747","https://search.clinicalgenome.org/kb/conditions/MONDO:0007747","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1371","Dosage Working Group","","","","","",""
"CA2","HGNC:1373","https://search.clinicalgenome.org/kb/genes/HGNC:1373","autosomal recessive osteopetrosis 3","MONDO:0009818","https://search.clinicalgenome.org/kb/conditions/MONDO:0009818","Autosomal recessive inheritance","","","","","definitive evidence (06/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55a34937-7d48-45b0-a6c8-8d799f0d5934-2024-06-10T160000.000Z","Skeletal Disorders","","",""
"CA5A","HGNC:1377","https://search.clinicalgenome.org/kb/genes/HGNC:1377","hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency","MONDO:0014332","https://search.clinicalgenome.org/kb/conditions/MONDO:0014332","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1377","Dosage Working Group","definitive evidence (09/10/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7c5731a-866e-4a96-abb0-f0747f89280b-2018-09-10T160000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/19/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1058",""
"CA8","HGNC:1382","https://search.clinicalgenome.org/kb/genes/HGNC:1382","cerebellar ataxia","MONDO:0000437","https://search.clinicalgenome.org/kb/conditions/MONDO:0000437","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1382","Dosage Working Group","moderate evidence (01/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0800c48-e3b1-4cb2-bbd1-4d649e506ebd-2024-01-15T230000.000Z","Intellectual Disability and Autism","","",""
"CA8","HGNC:1382","https://search.clinicalgenome.org/kb/genes/HGNC:1382","cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3","MONDO:0013188","https://search.clinicalgenome.org/kb/conditions/MONDO:0013188","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1382","Dosage Working Group","","","","","",""
"CABP2","HGNC:1385","https://search.clinicalgenome.org/kb/genes/HGNC:1385","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/20/2021)","0 - No Evidence for Triplosensitivity (08/20/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1385","Dosage Working Group","definitive evidence (02/06/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20de88d2-6681-4522-9e11-26cdf66a2c15-2020-02-06T170000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CABP2","HGNC:1385","https://search.clinicalgenome.org/kb/genes/HGNC:1385","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/20/2021)","0 - No Evidence for Triplosensitivity (08/20/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1385","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CABP2","HGNC:1385","https://search.clinicalgenome.org/kb/genes/HGNC:1385","autosomal recessive nonsyndromic hearing loss 93","MONDO:0013963","https://search.clinicalgenome.org/kb/conditions/MONDO:0013963","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/20/2021)","0 - No Evidence for Triplosensitivity (08/20/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1385","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CABP2","HGNC:1385","https://search.clinicalgenome.org/kb/genes/HGNC:1385","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/20/2021)","0 - No Evidence for Triplosensitivity (08/20/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1385","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CABP4","HGNC:1386","https://search.clinicalgenome.org/kb/genes/HGNC:1386","cone-rod synaptic disorder, congenital nonprogressive","MONDO:0012490","https://search.clinicalgenome.org/kb/conditions/MONDO:0012490","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1386","Dosage Working Group","","","","","",""
"CACNA1A","HGNC:1388","https://search.clinicalgenome.org/kb/genes/HGNC:1388","episodic ataxia type 2","MONDO:0007163","https://search.clinicalgenome.org/kb/conditions/MONDO:0007163","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/21/2017)","0 - No Evidence for Triplosensitivity (05/21/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1388","Dosage Working Group","","","","","",""
"CACNA1B","HGNC:1389","https://search.clinicalgenome.org/kb/genes/HGNC:1389","complex neurodevelopmental disorder with motor features","MONDO:0100516","https://search.clinicalgenome.org/kb/conditions/MONDO:0100516","Autosomal recessive inheritance","","","","","moderate evidence (08/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df8ed53b-a959-4e5b-a323-7a80b152a98b-2023-08-21T180000.000Z","Cerebral Palsy","","",""
"CACNA1C","HGNC:1390","https://search.clinicalgenome.org/kb/genes/HGNC:1390","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (03/24/2016)","0 - No Evidence for Triplosensitivity (03/24/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1390","Dosage Working Group","moderate evidence (04/24/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c496551d-c7a7-4e49-ad41-8cfd49840dc1-2020-04-24T040000.000Z","Long QT Syndrome","","",""
"CACNA1C","HGNC:1390","https://search.clinicalgenome.org/kb/genes/HGNC:1390","short QT syndrome","MONDO:0000453","https://search.clinicalgenome.org/kb/conditions/MONDO:0000453","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (03/24/2016)","0 - No Evidence for Triplosensitivity (03/24/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1390","Dosage Working Group","disputing (08/03/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51dae85e-8745-48c1-8fb9-cabc2501d3fb-2020-08-03T160000.000Z","Short QT Syndrome","","",""
"CACNA1C","HGNC:1390","https://search.clinicalgenome.org/kb/genes/HGNC:1390","Timothy syndrome","MONDO:0010979","https://search.clinicalgenome.org/kb/conditions/MONDO:0010979","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (03/24/2016)","0 - No Evidence for Triplosensitivity (03/24/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1390","Dosage Working Group","definitive evidence (04/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1fc2dfc-d200-40d0-9cd6-421276578e6e-2023-04-14T020000.000Z","Hereditary Cardiovascular Disease","","",""
"CACNA1C","HGNC:1390","https://search.clinicalgenome.org/kb/genes/HGNC:1390","Brugada syndrome","MONDO:0015263","https://search.clinicalgenome.org/kb/conditions/MONDO:0015263","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (03/24/2016)","0 - No Evidence for Triplosensitivity (03/24/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1390","Dosage Working Group","disputing (02/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d869dbe-c00c-4875-93c8-80ba0436b895-2025-02-25T010000.000Z","Hereditary Cardiovascular Disease","","",""
"CACNA1D","HGNC:1391","https://search.clinicalgenome.org/kb/genes/HGNC:1391","sinoatrial node dysfunction and deafness","MONDO:0013960","https://search.clinicalgenome.org/kb/conditions/MONDO:0013960","Autosomal recessive inheritance","","","","","moderate evidence (04/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8249f2c1-ff59-4ea2-8e7e-11256c73433e-2024-04-17T160000.000Z","Hearing Loss","","",""
"CACNA1D","HGNC:1391","https://search.clinicalgenome.org/kb/genes/HGNC:1391","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (09/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9eb44537-f403-45ce-b89e-83363918f986-2024-09-04T160000.000Z","Intellectual Disability and Autism","","",""
"CACNA1E","HGNC:1392","https://search.clinicalgenome.org/kb/genes/HGNC:1392","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (09/10/2024)","0 - No Evidence for Triplosensitivity (09/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1392","Dosage Working Group","definitive evidence (12/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0cf0db0a-4af2-4e60-ab64-ce0115241caf-2023-12-06T200000.000Z","Intellectual Disability and Autism","","",""
"CACNA1E","HGNC:1392","https://search.clinicalgenome.org/kb/genes/HGNC:1392","developmental and epileptic encephalopathy, 69","MONDO:0032657","https://search.clinicalgenome.org/kb/conditions/MONDO:0032657","N/A","1 - Little Evidence for Haploinsufficiency (09/10/2024)","0 - No Evidence for Triplosensitivity (09/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1392","Dosage Working Group","","","","","",""
"CACNA1F","HGNC:1393","https://search.clinicalgenome.org/kb/genes/HGNC:1393","CACNA1F-related retinopathy","MONDO:0700243","https://search.clinicalgenome.org/kb/conditions/MONDO:0700243","X-linked inheritance","","","","","definitive evidence (01/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7800cd0-11d8-4e50-85f0-04574c8798f4-2023-01-05T170000.000Z","Retina","","",""
"CACNA1S","HGNC:1397","https://search.clinicalgenome.org/kb/genes/HGNC:1397","malignant hyperthermia, susceptibility to, 5","MONDO:0011163","https://search.clinicalgenome.org/kb/conditions/MONDO:0011163","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (01/18/2016)","0 - No Evidence for Triplosensitivity (01/18/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1397","Dosage Working Group","moderate evidence (04/26/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22fff996-ca2e-473d-8a57-d2b8ff022a92-2023-04-26T160000.000Z","General Gene Curation","Strong Actionability (01/12/2021) | Strong Actionability (01/12/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC076 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC076"," | "
"CACNA1S","HGNC:1397","https://search.clinicalgenome.org/kb/genes/HGNC:1397","malignant hyperthermia of anesthesia","MONDO:0018493","https://search.clinicalgenome.org/kb/conditions/MONDO:0018493","N/A","0 - No Evidence for Haploinsufficiency (01/18/2016)","0 - No Evidence for Triplosensitivity (01/18/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1397","Dosage Working Group","","","","Strong Actionability (01/12/2021) | Strong Actionability (01/12/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC076 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC076"," | "
"CACNA2D1","HGNC:1399","https://search.clinicalgenome.org/kb/genes/HGNC:1399","Brugada syndrome 1","MONDO:0011001","https://search.clinicalgenome.org/kb/conditions/MONDO:0011001","Autosomal dominant inheritance","","","","","disputing (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10147","Brugada Syndrome","","",""
"CACNA2D1","HGNC:1399","https://search.clinicalgenome.org/kb/genes/HGNC:1399","short QT syndrome","MONDO:0000453","https://search.clinicalgenome.org/kb/conditions/MONDO:0000453","Autosomal dominant inheritance","","","","","disputing (09/05/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_896733cc-c686-4279-affb-e1860fd10ca2-2020-09-05T160000.000Z","Short QT Syndrome","","",""
"CACNA2D2","HGNC:1400","https://search.clinicalgenome.org/kb/genes/HGNC:1400","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal recessive inheritance","","","","","moderate evidence (11/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aadbfa17-bd3f-4521-bb7f-c5ada786d05c-2023-11-21T080000.000Z","Epilepsy","","",""
"CACNA2D4","HGNC:20202","https://search.clinicalgenome.org/kb/genes/HGNC:20202","CACNA2D4-related retinopathy","MONDO:0700244","https://search.clinicalgenome.org/kb/conditions/MONDO:0700244","Autosomal recessive inheritance","","","","","definitive evidence (03/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f413ef18-b8cf-44c3-abde-b7533e1dd54f-2023-03-02T170000.000Z","Retina","","",""
"CACNB2","HGNC:1402","https://search.clinicalgenome.org/kb/genes/HGNC:1402","cardiogenetic disease","MONDO:0100547","https://search.clinicalgenome.org/kb/conditions/MONDO:0100547","Autosomal dominant inheritance","","","","","disputing (07/22/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1dd59b42-2ed6-4685-b93b-39ba49ece50b-2025-07-22T160000.000Z","Hereditary Cardiovascular Disease","","",""
"CACNB4","HGNC:1404","https://search.clinicalgenome.org/kb/genes/HGNC:1404","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","","","","","refuting evidence (07/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2fad131-8e91-4874-9394-8b86d6d62abb-2022-07-05T160000.000Z","Epilepsy","","",""
"CACNG2","HGNC:1406","https://search.clinicalgenome.org/kb/genes/HGNC:1406","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","limited evidence (07/29/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a61ad78f-0f37-4221-82f4-710275033666-2021-07-29T210333.496Z","Intellectual Disability and Autism","","",""
"CAD","HGNC:1424","https://search.clinicalgenome.org/kb/genes/HGNC:1424","developmental and epileptic encephalopathy, 50","MONDO:0014647","https://search.clinicalgenome.org/kb/conditions/MONDO:0014647","Autosomal recessive inheritance","","","","","definitive evidence (04/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4a828c0-e00b-4756-aec7-b83e529ec8e4-2024-04-03T160000.000Z","Congenital Disorders of Glycosylation","","",""
"CALM1","HGNC:1442","https://search.clinicalgenome.org/kb/genes/HGNC:1442","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (12/12/2023)","0 - No Evidence for Triplosensitivity (12/12/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1442","Dosage Working Group","definitive evidence (09/25/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a150cd9-e16b-4992-8cc7-5ccec44b4d6b-2018-09-25T160000.000Z","Long QT Syndrome","","",""
"CALM1","HGNC:1442","https://search.clinicalgenome.org/kb/genes/HGNC:1442","catecholaminergic polymorphic ventricular tachycardia","MONDO:0017990","https://search.clinicalgenome.org/kb/conditions/MONDO:0017990","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (12/12/2023)","0 - No Evidence for Triplosensitivity (12/12/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1442","Dosage Working Group","moderate evidence (06/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ca1d8df-10fa-48ef-aea4-fb4dc6564dd0-2021-06-17T160000.000Z","Catecholaminergic Polymorphic Ventricular Tachycardia","Moderate Actionability (03/11/2021) | Strong Actionability (03/11/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC042"," | "
"CALM1","HGNC:1442","https://search.clinicalgenome.org/kb/genes/HGNC:1442","catecholaminergic polymorphic ventricular tachycardia 4","MONDO:0013966","https://search.clinicalgenome.org/kb/conditions/MONDO:0013966","N/A","0 - No Evidence for Haploinsufficiency (12/12/2023)","0 - No Evidence for Triplosensitivity (12/12/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1442","Dosage Working Group","","","","Moderate Actionability (03/11/2021) | Strong Actionability (03/11/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC042"," | "
"CALM2","HGNC:1445","https://search.clinicalgenome.org/kb/genes/HGNC:1445","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/09/2024)","0 - No Evidence for Triplosensitivity (07/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1445","Dosage Working Group","definitive evidence (09/25/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86e4b783-3b60-4a1d-ab34-e61d27751ca6-2018-09-25T160000.000Z","Long QT Syndrome","","",""
"CALM2","HGNC:1445","https://search.clinicalgenome.org/kb/genes/HGNC:1445","catecholaminergic polymorphic ventricular tachycardia","MONDO:0017990","https://search.clinicalgenome.org/kb/conditions/MONDO:0017990","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/09/2024)","0 - No Evidence for Triplosensitivity (07/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1445","Dosage Working Group","moderate evidence (06/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42d280da-accc-46f2-8832-47d5a3eeeba7-2021-06-17T160000.000Z","Catecholaminergic Polymorphic Ventricular Tachycardia","Moderate Actionability (03/11/2021) | Strong Actionability (03/11/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC042"," | "
"CALM3","HGNC:1449","https://search.clinicalgenome.org/kb/genes/HGNC:1449","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/09/2024)","0 - No Evidence for Triplosensitivity (07/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1449","Dosage Working Group","definitive evidence (09/25/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3cc2a1ae-5f3d-445c-b124-f3d38fdd070a-2018-09-25T160000.000Z","Long QT Syndrome","","",""
"CALM3","HGNC:1449","https://search.clinicalgenome.org/kb/genes/HGNC:1449","catecholaminergic polymorphic ventricular tachycardia","MONDO:0017990","https://search.clinicalgenome.org/kb/conditions/MONDO:0017990","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/09/2024)","0 - No Evidence for Triplosensitivity (07/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1449","Dosage Working Group","moderate evidence (06/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b7fc965-a109-4448-94a0-00a9b078b484-2021-06-17T160000.000Z","Catecholaminergic Polymorphic Ventricular Tachycardia","Moderate Actionability (03/11/2021) | Strong Actionability (03/11/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC042"," | "
"CALM3","HGNC:1449","https://search.clinicalgenome.org/kb/genes/HGNC:1449","long QT syndrome 16","MONDO:0032915","https://search.clinicalgenome.org/kb/conditions/MONDO:0032915","N/A","0 - No Evidence for Haploinsufficiency (07/09/2024)","0 - No Evidence for Triplosensitivity (07/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1449","Dosage Working Group","","","","Moderate Actionability (03/11/2021) | Strong Actionability (03/11/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC042"," | "
"CALR3","HGNC:20407","https://search.clinicalgenome.org/kb/genes/HGNC:20407","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","disputing (01/11/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd8036e5-bf01-4b89-b4fc-94080d835d99-2023-01-11T170000.000Z","Hereditary Cardiovascular Disease","","",""
"CAMK2A","HGNC:1460","https://search.clinicalgenome.org/kb/genes/HGNC:1460","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (05/24/2023)","0 - No Evidence for Triplosensitivity (05/24/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1460","Dosage Working Group","definitive evidence (10/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82e77410-49d7-41b8-a5b8-278afac7dc26-2024-10-15T190000.000Z","Intellectual Disability and Autism","","",""
"CAMK2A","HGNC:1460","https://search.clinicalgenome.org/kb/genes/HGNC:1460","intellectual disability, autosomal dominant 53","MONDO:0030919","https://search.clinicalgenome.org/kb/conditions/MONDO:0030919","N/A","1 - Little Evidence for Haploinsufficiency (05/24/2023)","0 - No Evidence for Triplosensitivity (05/24/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1460","Dosage Working Group","","","","","",""
"CAMK2B","HGNC:1461","https://search.clinicalgenome.org/kb/genes/HGNC:1461","intellectual disability, autosomal dominant 54","MONDO:0030920","https://search.clinicalgenome.org/kb/conditions/MONDO:0030920","N/A","1 - Little Evidence for Haploinsufficiency (01/25/2023)","0 - No Evidence for Triplosensitivity (01/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1461","Dosage Working Group","","","","","",""
"CAMK2G","HGNC:1463","https://search.clinicalgenome.org/kb/genes/HGNC:1463","intellectual developmental disorder 59","MONDO:0032795","https://search.clinicalgenome.org/kb/conditions/MONDO:0032795","Autosomal dominant inheritance","","","","","limited evidence (04/04/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_525f1ddb-a662-4baf-b877-45fc26e07b71-2025-04-04T160000.000Z","Syndromic Disorders","","",""
"CAMLG","HGNC:1471","https://search.clinicalgenome.org/kb/genes/HGNC:1471","congenital disorder of glycosylation, type IIz","MONDO:0859357","https://search.clinicalgenome.org/kb/conditions/MONDO:0859357","Autosomal recessive inheritance","","","","","limited evidence (09/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c077f9b7-9845-44dc-8007-be476f7b291e-2024-09-25T160000.000Z","Congenital Disorders of Glycosylation","","",""
"CAMTA1","HGNC:18806","https://search.clinicalgenome.org/kb/genes/HGNC:18806","cerebellar dysfunction with variable cognitive and behavioral abnormalities","MONDO:0013886","https://search.clinicalgenome.org/kb/conditions/MONDO:0013886","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/14/2017)","0 - No Evidence for Triplosensitivity (12/14/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18806","Dosage Working Group","definitive evidence (05/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c099ca83-11be-4d06-b8d7-f2cd8efca1a5-2023-05-16T060000.000Z","Intellectual Disability and Autism","","",""
"CANT1","HGNC:19721","https://search.clinicalgenome.org/kb/genes/HGNC:19721","Desbuquois dysplasia 1","MONDO:0009629","https://search.clinicalgenome.org/kb/conditions/MONDO:0009629","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19721","Dosage Working Group","definitive evidence (11/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30c64852-60e0-44ce-bf10-cf7af11b1fa9-2024-11-20T170000.000Z","Prenatal","","",""
"CAPN3","HGNC:1480","https://search.clinicalgenome.org/kb/genes/HGNC:1480","muscular dystrophy, limb-girdle, autosomal dominant","MONDO:0015151","https://search.clinicalgenome.org/kb/conditions/MONDO:0015151","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1480","Dosage Working Group","definitive evidence (05/13/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c9eee52-920c-47e4-99f9-a5afb97d49f2-2025-05-13T160000.000Z","Muscular Dystrophies and Myopathies","","",""
"CAPN3","HGNC:1480","https://search.clinicalgenome.org/kb/genes/HGNC:1480","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1480","Dosage Working Group","definitive evidence (08/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86925075-3fea-401c-90b3-6b40b2b045ca-2024-08-29T190000.000Z","Muscular Dystrophies and Myopathies","","",""
"CAPN3","HGNC:1480","https://search.clinicalgenome.org/kb/genes/HGNC:1480","autosomal recessive limb-girdle muscular dystrophy type 2A","MONDO:0009675","https://search.clinicalgenome.org/kb/conditions/MONDO:0009675","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1480","Dosage Working Group","","","","","",""
"CAPN5","HGNC:1482","https://search.clinicalgenome.org/kb/genes/HGNC:1482","CAPN5-related vitreoretinopathy","MONDO:0100450","https://search.clinicalgenome.org/kb/conditions/MONDO:0100450","Autosomal dominant inheritance","","","","","definitive evidence (08/05/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d39e430-b1fc-43f1-957b-1c02eb66a69c-2021-08-05T160000.000Z","Retina","","",""
"CAPRIN1","HGNC:6743","https://search.clinicalgenome.org/kb/genes/HGNC:6743","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (07/24/2024)","0 - No Evidence for Triplosensitivity (07/24/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6743","Dosage Working Group","","","","","",""
"CARD11","HGNC:16393","https://search.clinicalgenome.org/kb/genes/HGNC:16393","immunodeficiency 11b with atopic dermatitis","MONDO:0054697","https://search.clinicalgenome.org/kb/conditions/MONDO:0054697","Autosomal dominant inheritance","","","","","definitive evidence (03/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_603e8c98-82b7-41b5-8174-1fdbfc724a7d-2022-03-15T131220.080Z","Antibody Deficiencies GCEP","","",""
"CARD11","HGNC:16393","https://search.clinicalgenome.org/kb/genes/HGNC:16393","BENTA disease","MONDO:0014645","https://search.clinicalgenome.org/kb/conditions/MONDO:0014645","Autosomal dominant inheritance","","","","","definitive evidence (03/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23dd1a19-585b-46bb-9241-682b200bfd7d-2022-03-15T131318.170Z","Antibody Deficiencies GCEP","","",""
"CARD11","HGNC:16393","https://search.clinicalgenome.org/kb/genes/HGNC:16393","severe combined immunodeficiency due to CARD11 deficiency","MONDO:0014081","https://search.clinicalgenome.org/kb/conditions/MONDO:0014081","Autosomal recessive inheritance","","","","","definitive evidence (03/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ce06b6f-cf7f-43f3-bf9c-5d3978f1db61-2022-03-15T131409.712Z","Antibody Deficiencies GCEP","","",""
"CARMIL2","HGNC:27089","https://search.clinicalgenome.org/kb/genes/HGNC:27089","severe combined immunodeficiency due to CARMIL2 deficiency","MONDO:0029134","https://search.clinicalgenome.org/kb/conditions/MONDO:0029134","Autosomal recessive inheritance","","","","","definitive evidence (03/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0055cbc0-64df-4f38-9074-495f4ac74e1c-2024-03-12T160000.000Z","Primary Immune Regulatory Disorders","","",""
"CARS2","HGNC:25695","https://search.clinicalgenome.org/kb/genes/HGNC:25695","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (05/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a07aaa07-ad0d-4dac-8751-18242a3f36a9-2022-05-19T160000.000Z","Mitochondrial Diseases","","",""
"CASK","HGNC:1497","https://search.clinicalgenome.org/kb/genes/HGNC:1497","X-linked syndromic intellectual disability","MONDO:0020119","https://search.clinicalgenome.org/kb/conditions/MONDO:0020119","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/28/2012)","0 - No Evidence for Triplosensitivity (06/28/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1497","Dosage Working Group","definitive evidence (07/09/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca0e703c-3fe1-44a1-8632-036554b2f158-2019-07-09T100000.000Z","Intellectual Disability and Autism","","",""
"CASK","HGNC:1497","https://search.clinicalgenome.org/kb/genes/HGNC:1497","syndromic X-linked intellectual disability Najm type","MONDO:0010417","https://search.clinicalgenome.org/kb/conditions/MONDO:0010417","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/28/2012)","0 - No Evidence for Triplosensitivity (06/28/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1497","Dosage Working Group","","","","","",""
"CASP10","HGNC:1500","https://search.clinicalgenome.org/kb/genes/HGNC:1500","autoimmune lymphoproliferative syndrome type 2A","MONDO:0011383","https://search.clinicalgenome.org/kb/conditions/MONDO:0011383","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (04/10/2020)","0 - No Evidence for Triplosensitivity (04/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1500","Dosage Working Group","limited evidence (03/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd4bc3b7-ee3f-4fe0-b24a-be27e0840506-2024-03-19T160000.000Z","Primary Immune Regulatory Disorders","","",""
"CASQ2","HGNC:1513","https://search.clinicalgenome.org/kb/genes/HGNC:1513","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1513","Dosage Working Group","disputing (05/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07177c89-7845-4df5-ba3e-bdd415b5c8b3-2022-05-10T160000.000Z","Hereditary Cardiovascular Disease","","",""
"CASQ2","HGNC:1513","https://search.clinicalgenome.org/kb/genes/HGNC:1513","catecholaminergic polymorphic ventricular tachycardia","MONDO:0017990","https://search.clinicalgenome.org/kb/conditions/MONDO:0017990","Autosomal recessive inheritance | Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1513","Dosage Working Group","definitive evidence (01/20/2021) | moderate evidence (01/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_991ee32e-280d-4bea-a638-aa1b6fa6f781-2021-01-20T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c778b145-fcfc-4252-8dd8-33f982b288e8-2021-01-20T170000.000Z","Catecholaminergic Polymorphic Ventricular Tachycardia | Catecholaminergic Polymorphic Ventricular Tachycardia","Strong Actionability (03/11/2021) | Strong Actionability (03/11/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC042"," | "
"CASQ2","HGNC:1513","https://search.clinicalgenome.org/kb/genes/HGNC:1513","catecholaminergic polymorphic ventricular tachycardia 2","MONDO:0012762","https://search.clinicalgenome.org/kb/conditions/MONDO:0012762","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1513","Dosage Working Group","","","","Strong Actionability (03/11/2021) | Strong Actionability (03/11/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC042"," | "
"CASR","HGNC:1514","https://search.clinicalgenome.org/kb/genes/HGNC:1514","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/02/2012)","0 - No Evidence for Triplosensitivity (03/02/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1514","Dosage Working Group","disputing (03/03/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ddebf083-3434-4401-9b6b-9ec24aceec89-2021-03-03T123827.967Z","Epilepsy","","",""
"CASR","HGNC:1514","https://search.clinicalgenome.org/kb/genes/HGNC:1514","autosomal dominant hypocalcemia 1","MONDO:0011013","https://search.clinicalgenome.org/kb/conditions/MONDO:0011013","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/02/2012)","0 - No Evidence for Triplosensitivity (03/02/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1514","Dosage Working Group","definitive evidence (07/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f699475d-1482-4998-a921-939b8be1bc2c-2023-07-20T160000.000Z","Tubulopathy","","",""
"CASR","HGNC:1514","https://search.clinicalgenome.org/kb/genes/HGNC:1514","familial hypocalciuric hypercalcemia 1","MONDO:0007791","https://search.clinicalgenome.org/kb/conditions/MONDO:0007791","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/02/2012)","0 - No Evidence for Triplosensitivity (03/02/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1514","Dosage Working Group","definitive evidence (07/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4cb3c61b-f7eb-4682-94af-5fde40c04e26-2023-07-20T160000.000Z","Tubulopathy","","",""
"CASR","HGNC:1514","https://search.clinicalgenome.org/kb/genes/HGNC:1514","neonatal severe primary hyperparathyroidism","MONDO:0009397","https://search.clinicalgenome.org/kb/conditions/MONDO:0009397","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (03/02/2012)","0 - No Evidence for Triplosensitivity (03/02/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1514","Dosage Working Group","definitive evidence (07/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_095b6507-5537-4017-b2b9-28715cc23df7-2023-07-20T160000.000Z","Tubulopathy","","",""
"CASZ1","HGNC:26002","https://search.clinicalgenome.org/kb/genes/HGNC:26002","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (04/25/2019)","0 - No Evidence for Triplosensitivity (04/25/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26002","Dosage Working Group","limited evidence (08/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_754d56b3-0749-4292-b6c8-96ab61232076-2024-08-12T160000.000Z","Congenital Heart Disease","","",""
"CAT","HGNC:1516","https://search.clinicalgenome.org/kb/genes/HGNC:1516","acatalasia","MONDO:0013571","https://search.clinicalgenome.org/kb/conditions/MONDO:0013571","Autosomal recessive inheritance","","","","","moderate evidence (02/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7381d0cc-74d3-4dfc-bc2e-62416afbb0ee-2025-02-07T170000.000Z","Peroxisomal Disorders","","",""
"CAV1","HGNC:1527","https://search.clinicalgenome.org/kb/genes/HGNC:1527","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","definitive evidence (07/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f4c3d64-7993-4196-a002-6cc9904a4360-2025-07-30T160000.000Z","Pulmonary Hypertension","","",""
"CAV1","HGNC:1527","https://search.clinicalgenome.org/kb/genes/HGNC:1527","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","","","","","limited evidence (12/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cab41529-d295-466c-8821-75a16bb12c38-2023-12-21T170000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"CAV1","HGNC:1527","https://search.clinicalgenome.org/kb/genes/HGNC:1527","congenital generalized lipodystrophy type 3","MONDO:0012923","https://search.clinicalgenome.org/kb/conditions/MONDO:0012923","Autosomal recessive inheritance","","","","","definitive evidence (06/11/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c3e1365-0b20-43c6-87a5-3c15951a2acf-2025-06-11T160000.000Z","Monogenic Diabetes","","",""
"CAV1","HGNC:1527","https://search.clinicalgenome.org/kb/genes/HGNC:1527","lipodystrophy","MONDO:0006573","https://search.clinicalgenome.org/kb/conditions/MONDO:0006573","Autosomal dominant inheritance","","","","","limited evidence (07/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7278df5e-7003-4ff8-bcb6-f043cf2fcb60-2025-07-16T160000.000Z","Monogenic Diabetes","","",""
"CAV2","HGNC:1528","https://search.clinicalgenome.org/kb/genes/HGNC:1528","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","","","","","limited evidence (12/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38faae4c-13ae-4c28-bea4-43e3ad15e178-2023-12-21T170000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"CAV3","HGNC:1529","https://search.clinicalgenome.org/kb/genes/HGNC:1529","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","","","","","limited evidence (12/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_74aabddc-3402-46de-ba1e-f66aa273cd9c-2020-12-15T002855.870Z","Long QT Syndrome","","",""
"CAV3","HGNC:1529","https://search.clinicalgenome.org/kb/genes/HGNC:1529","caveolinopathy","MONDO:0016146","https://search.clinicalgenome.org/kb/conditions/MONDO:0016146","Autosomal dominant inheritance","","","","","definitive evidence (09/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a314687e-b35d-4bb4-8b93-efcc83d1fa9b-2022-09-13T160000.000Z","Muscular Dystrophies and Myopathies","","",""
"CAVIN1","HGNC:9688","https://search.clinicalgenome.org/kb/genes/HGNC:9688","lipodystrophy","MONDO:0006573","https://search.clinicalgenome.org/kb/conditions/MONDO:0006573","Autosomal recessive inheritance","","","","","definitive evidence (01/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9676952d-3e95-4e05-ac04-04fc1b4ed7b3-2025-01-16T170000.000Z","Monogenic Diabetes","","",""
"CBL","HGNC:1541","https://search.clinicalgenome.org/kb/genes/HGNC:1541","CBL-related disorder","MONDO:0013308","https://search.clinicalgenome.org/kb/conditions/MONDO:0013308","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (02/14/2024)","0 - No Evidence for Triplosensitivity (02/14/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1541","Dosage Working Group","definitive evidence (04/29/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a1a76fd-7e23-44a7-b2fc-4495bc5d5ee6-2019-04-29T160000.000Z","RASopathy","","",""
"CBS","HGNC:1550","https://search.clinicalgenome.org/kb/genes/HGNC:1550","classic homocystinuria","MONDO:0009352","https://search.clinicalgenome.org/kb/conditions/MONDO:0009352","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1550","Dosage Working Group","definitive evidence (04/12/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9086d29-767b-4ab8-9274-1249b5480834-2019-04-12T160000.000Z","Aminoacidopathy","Strong Actionability (06/23/2023) | Moderate Actionability (06/23/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC097 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC097"," | "
"CBS","HGNC:1550","https://search.clinicalgenome.org/kb/genes/HGNC:1550","homocystinuria","MONDO:0004737","https://search.clinicalgenome.org/kb/conditions/MONDO:0004737","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1550","Dosage Working Group","","","","Strong Actionability (06/23/2023) | Moderate Actionability (06/23/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC097 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC097"," | "
"CC2D1A","HGNC:30237","https://search.clinicalgenome.org/kb/genes/HGNC:30237","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal recessive inheritance","","","","","definitive evidence (01/08/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_63def86b-765e-4f12-93a3-94ef911c3190-2020-01-08T170000.000Z","Intellectual Disability and Autism","","",""
"CC2D2A","HGNC:29253","https://search.clinicalgenome.org/kb/genes/HGNC:29253","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (07/17/2013)","0 - No Evidence for Triplosensitivity (07/17/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29253","Dosage Working Group","definitive evidence (08/24/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0acbae16-a383-4345-978c-9d28dda80d02-2022-08-24T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"CC2D2A","HGNC:29253","https://search.clinicalgenome.org/kb/genes/HGNC:29253","Joubert syndrome and related disorders","MONDO:0015369","https://search.clinicalgenome.org/kb/conditions/MONDO:0015369","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (07/17/2013)","0 - No Evidence for Triplosensitivity (07/17/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29253","Dosage Working Group","","","","","",""
"CCBE1","HGNC:29426","https://search.clinicalgenome.org/kb/genes/HGNC:29426","Hennekam lymphangiectasia-lymphedema syndrome 1","MONDO:0009337","https://search.clinicalgenome.org/kb/conditions/MONDO:0009337","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29426","Dosage Working Group","","","","","",""
"CCDC22","HGNC:28909","https://search.clinicalgenome.org/kb/genes/HGNC:28909","Ritscher-Schinzel syndrome 2","MONDO:0010499","https://search.clinicalgenome.org/kb/conditions/MONDO:0010499","X-linked inheritance","","","","","moderate evidence (06/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d62f7f8-4a91-4e0c-86b2-3f1d5d38d54b-2023-06-07T160000.000Z","Intellectual Disability and Autism","","",""
"CCDC32","HGNC:28295","https://search.clinicalgenome.org/kb/genes/HGNC:28295","cardiofacioneurodevelopmental syndrome","MONDO:0030873","https://search.clinicalgenome.org/kb/conditions/MONDO:0030873","Autosomal recessive inheritance","","","","","moderate evidence (10/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29c6c0dd-bbaf-45ce-92af-4c67059cac8f-2024-10-18T160000.000Z","Syndromic Disorders","","",""
"CCDC39","HGNC:25244","https://search.clinicalgenome.org/kb/genes/HGNC:25244","primary ciliary dyskinesia 14","MONDO:0013434","https://search.clinicalgenome.org/kb/conditions/MONDO:0013434","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25244","Dosage Working Group","definitive evidence (11/02/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79c47f13-dd33-45e4-a170-6ff26aa2732c-2021-11-02T204310.116Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"CCDC40","HGNC:26090","https://search.clinicalgenome.org/kb/genes/HGNC:26090","primary ciliary dyskinesia 15","MONDO:0013435","https://search.clinicalgenome.org/kb/conditions/MONDO:0013435","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26090","Dosage Working Group","definitive evidence (12/10/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9c192c6-9f74-4beb-85ba-a42199e9794a-2021-12-10T031508.185Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"CCDC50","HGNC:18111","https://search.clinicalgenome.org/kb/genes/HGNC:18111","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","limited evidence (06/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf656dcb-6644-41bb-a29a-d7bdf54b28f7-2024-06-25T160000.000Z","Hearing Loss","","",""
"CCDC78","HGNC:14153","https://search.clinicalgenome.org/kb/genes/HGNC:14153","centronuclear myopathy","MONDO:0018947","https://search.clinicalgenome.org/kb/conditions/MONDO:0018947","Autosomal dominant inheritance","","","","","limited evidence (12/09/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_886b45ae-232d-4635-ab94-88a0d15bbcca-2019-12-09T170000.000Z","Congenital Myopathies","","",""
"CCDC8","HGNC:25367","https://search.clinicalgenome.org/kb/genes/HGNC:25367","3M syndrome 3","MONDO:0013627","https://search.clinicalgenome.org/kb/conditions/MONDO:0013627","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25367","Dosage Working Group","","","","","",""
"CCM2","HGNC:21708","https://search.clinicalgenome.org/kb/genes/HGNC:21708","cerebral cavernous malformation 2","MONDO:0011304","https://search.clinicalgenome.org/kb/conditions/MONDO:0011304","Autosomal dominant inheritance","","","","","definitive evidence (05/27/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1013c58b-cea9-4e16-b68a-91a8a18bf989-2025-05-27T160000.000Z","Neurovascular","Limited Actionability (04/04/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC116",""
"CCM2","HGNC:21708","https://search.clinicalgenome.org/kb/genes/HGNC:21708","famililal cerebral cavernous malformations","MONDO:0031037","https://search.clinicalgenome.org/kb/conditions/MONDO:0031037","N/A","","","","","","","","Limited Actionability (04/04/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC116",""
"CCM2","HGNC:21708","https://search.clinicalgenome.org/kb/genes/HGNC:21708","cerebral cavernous malformation","MONDO:0000820","https://search.clinicalgenome.org/kb/conditions/MONDO:0000820","N/A","","","","","","","","Limited Actionability (04/04/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC116",""
"CCN6","HGNC:12771","https://search.clinicalgenome.org/kb/genes/HGNC:12771","progressive pseudorheumatoid arthropathy of childhood","MONDO:0008827","https://search.clinicalgenome.org/kb/conditions/MONDO:0008827","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12771","Dosage Working Group","definitive evidence (09/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_915a010c-e5d0-4a56-b7b7-f9c8acc4f6f0-2024-09-04T160000.000Z","Skeletal Disorders","","",""
"CCND2","HGNC:1583","https://search.clinicalgenome.org/kb/genes/HGNC:1583","megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3","MONDO:0014408","https://search.clinicalgenome.org/kb/conditions/MONDO:0014408","Autosomal dominant inheritance","","","","","definitive evidence (05/27/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8657a0bf-65fa-4413-b4e8-e64193c2731e-2025-05-27T170000.000Z","Brain Malformations","","",""
"CCNF","HGNC:1591","https://search.clinicalgenome.org/kb/genes/HGNC:1591","frontotemporal dementia and/or amyotrophic lateral sclerosis 5","MONDO:0030875","https://search.clinicalgenome.org/kb/conditions/MONDO:0030875","Autosomal dominant inheritance","","","","","limited evidence (04/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d6c258c-ce66-459a-a4ae-7376fcefde0d-2022-04-05T230455.308Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"CCNO","HGNC:18576","https://search.clinicalgenome.org/kb/genes/HGNC:18576","primary ciliary dyskinesia 29","MONDO:0014378","https://search.clinicalgenome.org/kb/conditions/MONDO:0014378","Autosomal recessive inheritance","","","","","definitive evidence (08/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20a78ac7-91a7-44a6-b42e-22611de2d170-2022-08-19T160000.000Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"CCNQ","HGNC:28434","https://search.clinicalgenome.org/kb/genes/HGNC:28434","syndactyly-telecanthus-anogenital and renal malformations syndrome","MONDO:0010408","https://search.clinicalgenome.org/kb/conditions/MONDO:0010408","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (06/11/2024)","0 - No Evidence for Triplosensitivity (06/11/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28434","Dosage Working Group","moderate evidence (07/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23aca7cf-8896-4a9d-a40b-94b6c8f18398-2024-07-19T160000.000Z","Syndromic Disorders","","",""
"CCS","HGNC:1613","https://search.clinicalgenome.org/kb/genes/HGNC:1613","disorder of copper metabolism","MONDO:0017762","https://search.clinicalgenome.org/kb/conditions/MONDO:0017762","Mode of inheritance","","","","","no known disease relationship (09/30/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2f759b8-ef60-4bfd-a56f-f62feb409840-2024-09-30T170000.000Z","General Inborn Errors of Metabolism","","",""
"CCT5","HGNC:1618","https://search.clinicalgenome.org/kb/genes/HGNC:1618","hereditary sensory and autonomic neuropathy with spastic paraplegia","MONDO:0009748","https://search.clinicalgenome.org/kb/conditions/MONDO:0009748","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1618","Dosage Working Group","","","","","",""
"CD164","HGNC:1632","https://search.clinicalgenome.org/kb/genes/HGNC:1632","autosomal dominant nonsyndromic hearing loss","MONDO:0019587","https://search.clinicalgenome.org/kb/conditions/MONDO:0019587","Autosomal dominant inheritance","","","","","moderate evidence (06/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9524ca4-7d17-4691-b650-0d457531c7fd-2024-06-25T160000.000Z","Hearing Loss","","",""
"CD19","HGNC:1633","https://search.clinicalgenome.org/kb/genes/HGNC:1633","immunodeficiency, common variable, 3","MONDO:0013283","https://search.clinicalgenome.org/kb/conditions/MONDO:0013283","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1633","Dosage Working Group","definitive evidence (05/24/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6576337-703e-4d76-9120-5f6800730774-2022-05-24T160000.000Z","Antibody Deficiencies GCEP","","",""
"CD247","HGNC:1677","https://search.clinicalgenome.org/kb/genes/HGNC:1677","immunodeficiency 25","MONDO:0012426","https://search.clinicalgenome.org/kb/conditions/MONDO:0012426","Autosomal recessive inheritance","","","","","definitive evidence (03/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_438b6c1f-edc0-4a81-9c82-39627e5a69cd-2022-03-11T140552.812Z","SCID-CID","","",""
"CD27","HGNC:11922","https://search.clinicalgenome.org/kb/genes/HGNC:11922","lymphoproliferative syndrome 2","MONDO:0014054","https://search.clinicalgenome.org/kb/conditions/MONDO:0014054","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (07/28/2023)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11922","Dosage Working Group","","","","","",""
"CD28","HGNC:1653","https://search.clinicalgenome.org/kb/genes/HGNC:1653","immunodeficiency 123 with HPV-related verrucosis","MONDO:0971177","https://search.clinicalgenome.org/kb/conditions/MONDO:0971177","Autosomal recessive inheritance","","","","","moderate evidence (10/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01ff1097-4da6-4dfb-be34-9161c65f986e-2024-10-29T160000.000Z","SCID-CID","","",""
"CD2AP","HGNC:14258","https://search.clinicalgenome.org/kb/genes/HGNC:14258","inherited focal segmental glomerulosclerosis","MONDO:0005363","https://search.clinicalgenome.org/kb/conditions/MONDO:0005363","Autosomal dominant inheritance","","","","","moderate evidence (06/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cae2640-258f-4ba1-8510-2b4db97cf36c-2024-06-28T160000.000Z","Glomerulopathy","","",""
"CD2AP","HGNC:14258","https://search.clinicalgenome.org/kb/genes/HGNC:14258","focal segmental glomerulosclerosis 3, susceptibility to","MONDO:0011917","https://search.clinicalgenome.org/kb/conditions/MONDO:0011917","Autosomal recessive inheritance","","","","","definitive evidence (04/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4bd2904-da48-4a7d-875e-bc90d56f59da-2024-04-08T160000.000Z","Glomerulopathy","","",""
"CD320","HGNC:16692","https://search.clinicalgenome.org/kb/genes/HGNC:16692","methylmalonic acidemia due to transcobalamin receptor defect","MONDO:0013341","https://search.clinicalgenome.org/kb/conditions/MONDO:0013341","Autosomal recessive inheritance","","","","","definitive evidence (09/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d98515f5-4296-4d41-95a9-adac90c00349-2022-09-23T160000.000Z","General Inborn Errors of Metabolism","","",""
"CD36","HGNC:1663","https://search.clinicalgenome.org/kb/genes/HGNC:1663","platelet-type bleeding disorder 10","MONDO:0012031","https://search.clinicalgenome.org/kb/conditions/MONDO:0012031","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1663","Dosage Working Group","","","","","",""
"CD3D","HGNC:1673","https://search.clinicalgenome.org/kb/genes/HGNC:1673","immunodeficiency 19","MONDO:0014280","https://search.clinicalgenome.org/kb/conditions/MONDO:0014280","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1673","Dosage Working Group","definitive evidence (05/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d59cf46-9acb-42f7-92da-d17113d39b38-2022-05-10T185446.511Z","SCID-CID","","",""
"CD3E","HGNC:1674","https://search.clinicalgenome.org/kb/genes/HGNC:1674","immunodeficiency 18","MONDO:0014278","https://search.clinicalgenome.org/kb/conditions/MONDO:0014278","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/09/2017)","0 - No Evidence for Triplosensitivity (05/09/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1674","Dosage Working Group","definitive evidence (01/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29d6bb32-65b3-4c78-9c94-da71cc591565-2021-01-26T172908.775Z","SCID-CID","","",""
"CD3G","HGNC:1675","https://search.clinicalgenome.org/kb/genes/HGNC:1675","combined immunodeficiency due to CD3gamma deficiency","MONDO:0014276","https://search.clinicalgenome.org/kb/conditions/MONDO:0014276","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1675","Dosage Working Group","definitive evidence (07/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ea83aa7-473b-4670-88dd-36b1abe277f8-2021-07-15T160000.000Z","SCID-CID","","",""
"CD40","HGNC:11919","https://search.clinicalgenome.org/kb/genes/HGNC:11919","hyper-IgM syndrome type 3","MONDO:0011735","https://search.clinicalgenome.org/kb/conditions/MONDO:0011735","Autosomal recessive inheritance","","","","","definitive evidence (10/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_debbb2e7-89a7-45b8-b5e1-41ccb56a3423-2022-10-18T160000.000Z","Antibody Deficiencies GCEP","","",""
"CD40LG","HGNC:11935","https://search.clinicalgenome.org/kb/genes/HGNC:11935","hyper-IgM syndrome type 1","MONDO:0010626","https://search.clinicalgenome.org/kb/conditions/MONDO:0010626","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/08/2020)","0 - No Evidence for Triplosensitivity (04/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11935","Dosage Working Group","definitive evidence (03/22/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4184ad10-d95f-4027-b75d-e4e11127febf-2021-03-22T154242.503Z","SCID-CID","","",""
"CD46","HGNC:6953","https://search.clinicalgenome.org/kb/genes/HGNC:6953","atypical hemolytic-uremic syndrome","MONDO:0016244","https://search.clinicalgenome.org/kb/conditions/MONDO:0016244","Semidominant inheritance","","","","","definitive evidence (06/27/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bddaec4f-9f57-41b7-81a4-2f6ff3fc5e7b-2024-06-27T160000.000Z","Complement-Mediated Kidney Diseases","","",""
"CD59","HGNC:1689","https://search.clinicalgenome.org/kb/genes/HGNC:1689","primary CD59 deficiency","MONDO:0012858","https://search.clinicalgenome.org/kb/conditions/MONDO:0012858","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1689","Dosage Working Group","","","","","",""
"CD70","HGNC:11937","https://search.clinicalgenome.org/kb/genes/HGNC:11937","severe combined immunodeficiency due to CD70 deficiency","MONDO:0034054","https://search.clinicalgenome.org/kb/conditions/MONDO:0034054","Autosomal recessive inheritance","","","","","definitive evidence (02/05/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69aa819c-1f25-42fe-8469-4641fc088a57-2025-02-05T170000.000Z","Primary Immune Regulatory Disorders","","",""
"CD79A","HGNC:1698","https://search.clinicalgenome.org/kb/genes/HGNC:1698","agammaglobulinemia 3, autosomal recessive","MONDO:0013288","https://search.clinicalgenome.org/kb/conditions/MONDO:0013288","Autosomal recessive inheritance","","","","","definitive evidence (12/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12a6257c-c9ca-432a-ab76-b05985283381-2020-12-15T135909.057Z","Antibody Deficiencies GCEP","","",""
"CD79B","HGNC:1699","https://search.clinicalgenome.org/kb/genes/HGNC:1699","agammaglobulinemia 6, autosomal recessive","MONDO:0012987","https://search.clinicalgenome.org/kb/conditions/MONDO:0012987","Autosomal recessive inheritance","","","","","definitive evidence (01/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c252b2c-2183-4e7d-8ceb-69f7a01cc1d9-2021-01-26T171006.440Z","Antibody Deficiencies GCEP","","",""
"CD81","HGNC:1701","https://search.clinicalgenome.org/kb/genes/HGNC:1701","immunodeficiency, common variable, 6","MONDO:0013286","https://search.clinicalgenome.org/kb/conditions/MONDO:0013286","Autosomal recessive inheritance","","","","","limited evidence (04/29/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2092b4c-a8ff-4b40-bc09-17fbe33aa3e7-2021-04-29T210806.386Z","Antibody Deficiencies GCEP","","",""
"CD8A","HGNC:1706","https://search.clinicalgenome.org/kb/genes/HGNC:1706","susceptibility to respiratory infections associated with CD8alpha chain mutation","MONDO:0012161","https://search.clinicalgenome.org/kb/conditions/MONDO:0012161","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1706","Dosage Working Group","limited evidence (08/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f770ad34-1c95-4454-92c7-26bff4404cc2-2022-08-18T160000.000Z","SCID-CID","","",""
"CD96","HGNC:16892","https://search.clinicalgenome.org/kb/genes/HGNC:16892","C syndrome","MONDO:0008893","https://search.clinicalgenome.org/kb/conditions/MONDO:0008893","Autosomal dominant inheritance","","","","","limited evidence (01/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fdae504e-96de-425c-a175-8934a38510de-2025-01-16T170000.000Z","Craniofacial Malformations","","",""
"CDAN1","HGNC:1713","https://search.clinicalgenome.org/kb/genes/HGNC:1713","anemia, congenital dyserythropoietic, type 1a","MONDO:0009135","https://search.clinicalgenome.org/kb/conditions/MONDO:0009135","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1713","Dosage Working Group","definitive evidence (01/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c9465f7d-4fc8-49b6-aa2c-4b92eb5f8c32-2025-01-07T170000.000Z","Prenatal","","",""
"CDC14A","HGNC:1718","https://search.clinicalgenome.org/kb/genes/HGNC:1718","hearing impairment and infertile male syndrome","MONDO:0100069","https://search.clinicalgenome.org/kb/conditions/MONDO:0100069","Autosomal recessive inheritance","","","","","strong evidence (06/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_144089d2-83ec-4c6c-8b43-9a4cae801d51-2023-06-01T160000.000Z","Hearing Loss","","",""
"CDC14A","HGNC:1718","https://search.clinicalgenome.org/kb/genes/HGNC:1718","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","definitive evidence (02/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e869e4b1-30e2-4d9b-9b69-124903d7b307-2025-02-25T170000.000Z","Hearing Loss","","",""
"CDC42","HGNC:1736","https://search.clinicalgenome.org/kb/genes/HGNC:1736","macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome","MONDO:0014757","https://search.clinicalgenome.org/kb/conditions/MONDO:0014757","Autosomal dominant inheritance","","","","","definitive evidence (10/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95177a3a-0dca-4945-8a44-f63697739cef-2021-10-27T162623.932Z","Hemostasis Thrombosis","","",""
"CDC42BPB","HGNC:1738","https://search.clinicalgenome.org/kb/genes/HGNC:1738","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","2 - Emerging Evidence for Haploinsufficiency (07/23/2025)","0 - No Evidence for Triplosensitivity (07/23/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1738","Dosage Working Group","","","","","",""
"CDC45","HGNC:1739","https://search.clinicalgenome.org/kb/genes/HGNC:1739","Meier-Gorlin syndrome 7","MONDO:0014894","https://search.clinicalgenome.org/kb/conditions/MONDO:0014894","Autosomal recessive inheritance","","","","","definitive evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab0dc4e6-06ae-4f78-8393-05ac2bbb563f-2023-05-30T160000.000Z","Syndromic Disorders","","",""
"CDC6","HGNC:1744","https://search.clinicalgenome.org/kb/genes/HGNC:1744","Meier-Gorlin syndrome 5","MONDO:0013432","https://search.clinicalgenome.org/kb/conditions/MONDO:0013432","Autosomal recessive inheritance","","","","","limited evidence (01/17/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_05b74230-8c08-4dcf-af1a-903a2584baf4-2025-01-17T170000.000Z","Syndromic Disorders","","",""
"CDC73","HGNC:16783","https://search.clinicalgenome.org/kb/genes/HGNC:16783","hyperparathyroidism 2 with jaw tumors","MONDO:0007768","https://search.clinicalgenome.org/kb/conditions/MONDO:0007768","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/13/2022)","0 - No Evidence for Triplosensitivity (04/13/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16783","Dosage Working Group","definitive evidence (04/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5bd498b-dc86-4f2d-a51b-48baf7017a02-2019-04-19T160000.000Z","Hereditary Cancer","Moderate Actionability (11/28/2023) | Moderate Actionability (11/28/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC119 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC119"," | "
"CDC73","HGNC:16783","https://search.clinicalgenome.org/kb/genes/HGNC:16783","parathyroid gland carcinoma","MONDO:0012004","https://search.clinicalgenome.org/kb/conditions/MONDO:0012004","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/13/2022)","0 - No Evidence for Triplosensitivity (04/13/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16783","Dosage Working Group","","","","Moderate Actionability (11/28/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC119",""
"CDC73","HGNC:16783","https://search.clinicalgenome.org/kb/genes/HGNC:16783","hyperparathyroidism 1","MONDO:0007767","https://search.clinicalgenome.org/kb/conditions/MONDO:0007767","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/13/2022)","0 - No Evidence for Triplosensitivity (04/13/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16783","Dosage Working Group","","","","Moderate Actionability (11/28/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC119",""
"CDCA7","HGNC:14628","https://search.clinicalgenome.org/kb/genes/HGNC:14628","immunodeficiency-centromeric instability-facial anomalies syndrome 3","MONDO:0014828","https://search.clinicalgenome.org/kb/conditions/MONDO:0014828","Autosomal recessive inheritance","","","","","limited evidence (04/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_357faf0e-a1db-4240-8268-bc9925a2c0ef-2023-04-20T170000.000Z","SCID-CID","","",""
"CDH1","HGNC:1748","https://search.clinicalgenome.org/kb/genes/HGNC:1748","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/10/2020)","0 - No Evidence for Triplosensitivity (04/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1748","Dosage Working Group","no known disease relationship (08/03/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8503","Breast/Ovarian Cancer","","",""
"CDH1","HGNC:1748","https://search.clinicalgenome.org/kb/genes/HGNC:1748","CDH1-related diffuse gastric and lobular breast cancer syndrome","MONDO:0100488","https://search.clinicalgenome.org/kb/conditions/MONDO:0100488","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/10/2020)","0 - No Evidence for Triplosensitivity (04/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1748","Dosage Working Group","definitive evidence (03/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14223ff7-e6b0-4c60-bee6-df55301d2017-2024-03-22T170000.000Z","Hereditary Cancer","Moderate Actionability (06/04/2019) | Limited Actionability (06/04/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC103 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC103"," | "
"CDH1","HGNC:1748","https://search.clinicalgenome.org/kb/genes/HGNC:1748","hereditary diffuse gastric adenocarcinoma","MONDO:0007648","https://search.clinicalgenome.org/kb/conditions/MONDO:0007648","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/10/2020)","0 - No Evidence for Triplosensitivity (04/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1748","Dosage Working Group","","","","","",""
"CDH11","HGNC:1750","https://search.clinicalgenome.org/kb/genes/HGNC:1750","Elsahy-Waters syndrome","MONDO:0008885","https://search.clinicalgenome.org/kb/conditions/MONDO:0008885","Autosomal recessive inheritance","","","","","definitive evidence (05/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41cee7da-44c3-49fa-b174-80ae3da5d153-2024-05-17T160000.000Z","Syndromic Disorders","","",""
"CDH11","HGNC:1750","https://search.clinicalgenome.org/kb/genes/HGNC:1750","Teebi hypertelorism syndrome 2","MONDO:0030674","https://search.clinicalgenome.org/kb/conditions/MONDO:0030674","Autosomal dominant inheritance","","","","","moderate evidence (05/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d159047f-2ee5-4406-8def-c5fe63b7ffe8-2024-05-17T160000.000Z","Syndromic Disorders","","",""
"CDH15","HGNC:1754","https://search.clinicalgenome.org/kb/genes/HGNC:1754","intellectual disability","MONDO:0001071","https://search.clinicalgenome.org/kb/conditions/MONDO:0001071","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (08/08/2013)","0 - No Evidence for Triplosensitivity (08/08/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1754","Dosage Working Group","disputing (02/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9295bddb-d61c-47c2-b186-97296b9c4d94-2021-02-17T170000.000Z","Intellectual Disability and Autism","","",""
"CDH15","HGNC:1754","https://search.clinicalgenome.org/kb/genes/HGNC:1754","intellectual disability, autosomal dominant 3","MONDO:0012946","https://search.clinicalgenome.org/kb/conditions/MONDO:0012946","N/A","0 - No Evidence for Haploinsufficiency (08/08/2013)","0 - No Evidence for Triplosensitivity (08/08/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1754","Dosage Working Group","","","","","",""
"CDH2","HGNC:1759","https://search.clinicalgenome.org/kb/genes/HGNC:1759","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","","","","","limited evidence (07/13/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7a03805-bf73-4d2d-9756-c666c67be119-2018-07-13T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"CDH2","HGNC:1759","https://search.clinicalgenome.org/kb/genes/HGNC:1759","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","limited evidence (05/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73900af1-14ee-4933-b5dc-832753e6cc6c-2025-05-16T160000.000Z","Dilated Cardiomyopathy","","",""
"CDH23","HGNC:13733","https://search.clinicalgenome.org/kb/genes/HGNC:13733","Usher syndrome type 1","MONDO:0010168","https://search.clinicalgenome.org/kb/conditions/MONDO:0010168","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13733","Dosage Working Group","definitive evidence (01/30/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5610","Hearing Loss","","",""
"CDH23","HGNC:13733","https://search.clinicalgenome.org/kb/genes/HGNC:13733","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13733","Dosage Working Group","definitive evidence (05/22/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5799772-f233-4004-99a8-e6a0dddf0e8b-2018-05-22T040000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CDH23","HGNC:13733","https://search.clinicalgenome.org/kb/genes/HGNC:13733","autosomal recessive nonsyndromic hearing loss 12","MONDO:0011067","https://search.clinicalgenome.org/kb/conditions/MONDO:0011067","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13733","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CDH23","HGNC:13733","https://search.clinicalgenome.org/kb/genes/HGNC:13733","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13733","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CDH23","HGNC:13733","https://search.clinicalgenome.org/kb/genes/HGNC:13733","sensorineural hearing loss disorder","MONDO:0020678","https://search.clinicalgenome.org/kb/conditions/MONDO:0020678","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13733","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CDH23","HGNC:13733","https://search.clinicalgenome.org/kb/genes/HGNC:13733","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13733","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CDH23","HGNC:13733","https://search.clinicalgenome.org/kb/genes/HGNC:13733","inherited auditory system disease","MONDO:0037940","https://search.clinicalgenome.org/kb/conditions/MONDO:0037940","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13733","Dosage Working Group","","","","","",""
"CDH3","HGNC:1762","https://search.clinicalgenome.org/kb/genes/HGNC:1762","EEM syndrome","MONDO:0009155","https://search.clinicalgenome.org/kb/conditions/MONDO:0009155","Autosomal recessive inheritance","","","","","definitive evidence (08/05/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5791d618-93bf-4517-9c60-48e6490319a6-2021-08-05T160000.000Z","Retina","","",""
"CDHR1","HGNC:14550","https://search.clinicalgenome.org/kb/genes/HGNC:14550","retinitis pigmentosa 65","MONDO:0800352","https://search.clinicalgenome.org/kb/conditions/MONDO:0800352","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14550","Dosage Working Group","definitive evidence (06/12/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2774d220-f9c0-419c-b9d2-eb7a1dc8f4f1-2025-06-12T160000.000Z","Retina","","",""
"CDHR1","HGNC:14550","https://search.clinicalgenome.org/kb/genes/HGNC:14550","cone-rod dystrophy 15","MONDO:0013348","https://search.clinicalgenome.org/kb/conditions/MONDO:0013348","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14550","Dosage Working Group","","","","","",""
"CDIN1","HGNC:26929","https://search.clinicalgenome.org/kb/genes/HGNC:26929","congenital dyserythropoietic anemia type type 1B","MONDO:0014285","https://search.clinicalgenome.org/kb/conditions/MONDO:0014285","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26929","Dosage Working Group","","","","","",""
"CDK13","HGNC:1733","https://search.clinicalgenome.org/kb/genes/HGNC:1733","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/04/2025)","0 - No Evidence for Triplosensitivity (09/04/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1733","Dosage Working Group","definitive evidence (12/31/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c594bcfa-2b2c-425a-8285-74bae8e01da8-2021-12-31T225720.705Z","Intellectual Disability and Autism","","",""
"CDK16","HGNC:8749","https://search.clinicalgenome.org/kb/genes/HGNC:8749","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","","","","","limited evidence (10/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93557c1a-c141-4833-bcbb-83fccbd7d761-2021-10-28T160000.000Z","Intellectual Disability and Autism","","",""
"CDK4","HGNC:1773","https://search.clinicalgenome.org/kb/genes/HGNC:1773","melanoma, cutaneous malignant, susceptibility to, 3","MONDO:0012183","https://search.clinicalgenome.org/kb/conditions/MONDO:0012183","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/02/2020)","0 - No Evidence for Triplosensitivity (09/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1773","Dosage Working Group","definitive evidence (01/13/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca76579b-1432-4edc-84e8-b3332dce4ede-2020-01-13T194434.667Z","Hereditary Cancer","","",""
"CDK5","HGNC:1774","https://search.clinicalgenome.org/kb/genes/HGNC:1774","lissencephaly with cerebellar hypoplasia","MONDO:0019450","https://search.clinicalgenome.org/kb/conditions/MONDO:0019450","Autosomal recessive inheritance","","","","","moderate evidence (04/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f6ba2ff-6567-493e-bf39-f05c03013e20-2024-04-29T160000.000Z","Brain Malformations","","",""
"CDK5RAP2","HGNC:18672","https://search.clinicalgenome.org/kb/genes/HGNC:18672","autosomal recessive primary microcephaly","MONDO:0016660","https://search.clinicalgenome.org/kb/conditions/MONDO:0016660","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18672","Dosage Working Group","definitive evidence (01/25/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70dace84-4d61-44f5-9de5-a81b5c70cad4-2022-01-25T170000.000Z","Brain Malformations","","",""
"CDK5RAP2","HGNC:18672","https://search.clinicalgenome.org/kb/genes/HGNC:18672","microcephaly 3, primary, autosomal recessive","MONDO:0011488","https://search.clinicalgenome.org/kb/conditions/MONDO:0011488","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18672","Dosage Working Group","","","","","",""
"CDK6","HGNC:1777","https://search.clinicalgenome.org/kb/genes/HGNC:1777","microcephaly 12, primary, autosomal recessive","MONDO:0014484","https://search.clinicalgenome.org/kb/conditions/MONDO:0014484","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1777","Dosage Working Group","","","","","",""
"CDKL5","HGNC:11411","https://search.clinicalgenome.org/kb/genes/HGNC:11411","CDKL5 disorder","MONDO:0100039","https://search.clinicalgenome.org/kb/conditions/MONDO:0100039","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/12/2012)","0 - No Evidence for Triplosensitivity (07/12/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11411","Dosage Working Group","definitive evidence (07/02/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a80cd86d-b085-4f35-9379-12a53ef367e2-2018-07-02T145731.072Z","Rett and Angelman-like Disorders","","",""
"CDKL5","HGNC:11411","https://search.clinicalgenome.org/kb/genes/HGNC:11411","developmental and epileptic encephalopathy, 2","MONDO:0010396","https://search.clinicalgenome.org/kb/conditions/MONDO:0010396","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/12/2012)","0 - No Evidence for Triplosensitivity (07/12/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11411","Dosage Working Group","","","","","",""
"CDKN1B","HGNC:1785","https://search.clinicalgenome.org/kb/genes/HGNC:1785","hereditary nonpolyposis colon cancer","MONDO:0018630","https://search.clinicalgenome.org/kb/conditions/MONDO:0018630","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/08/2020)","0 - No Evidence for Triplosensitivity (07/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1785","Dosage Working Group","limited evidence (06/08/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8434","Colon Cancer","","",""
"CDKN1B","HGNC:1785","https://search.clinicalgenome.org/kb/genes/HGNC:1785","multiple endocrine neoplasia type 4","MONDO:0012552","https://search.clinicalgenome.org/kb/conditions/MONDO:0012552","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/08/2020)","0 - No Evidence for Triplosensitivity (07/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1785","Dosage Working Group","definitive evidence (12/21/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b07f8882-dd5e-4831-9926-f8b4c2a8c265-2018-12-21T154854.477Z","Hereditary Cancer","Moderate Actionability (09/11/2023) | Moderate Actionability (09/11/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1061 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1061"," | "
"CDKN1C","HGNC:1786","https://search.clinicalgenome.org/kb/genes/HGNC:1786","Beckwith-Wiedemann syndrome","MONDO:0007534","https://search.clinicalgenome.org/kb/conditions/MONDO:0007534","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/25/2020)","0 - No Evidence for Triplosensitivity (09/25/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1786","Dosage Working Group","","","","","",""
"CDKN2A","HGNC:1787","https://search.clinicalgenome.org/kb/genes/HGNC:1787","melanoma-pancreatic cancer syndrome","MONDO:0011713","https://search.clinicalgenome.org/kb/conditions/MONDO:0011713","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/18/2022)","0 - No Evidence for Triplosensitivity (03/18/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1787","Dosage Working Group","definitive evidence (08/14/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c0d2fc0-12b2-4855-b537-60394d0987dd-2019-08-14T194547.089Z","Hereditary Cancer","Limited Actionability (06/03/2022) | Moderate Actionability (06/03/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC086 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC086"," | "
"CDKN2A","HGNC:1787","https://search.clinicalgenome.org/kb/genes/HGNC:1787","familial atypical multiple mole melanoma syndrome","MONDO:0018453","https://search.clinicalgenome.org/kb/conditions/MONDO:0018453","N/A","3 - Sufficient Evidence for Haploinsufficiency (03/18/2022)","0 - No Evidence for Triplosensitivity (03/18/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1787","Dosage Working Group","","","","Limited Actionability (06/03/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC086",""
"CDKN2A","HGNC:1787","https://search.clinicalgenome.org/kb/genes/HGNC:1787","melanoma, cutaneous malignant, susceptibility to, 2","MONDO:0007964","https://search.clinicalgenome.org/kb/conditions/MONDO:0007964","N/A","3 - Sufficient Evidence for Haploinsufficiency (03/18/2022)","0 - No Evidence for Triplosensitivity (03/18/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1787","Dosage Working Group","","","","Limited Actionability (06/03/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC086",""
"CDT1","HGNC:24576","https://search.clinicalgenome.org/kb/genes/HGNC:24576","Meier-Gorlin syndrome 4","MONDO:0013431","https://search.clinicalgenome.org/kb/conditions/MONDO:0013431","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24576","Dosage Working Group","definitive evidence (03/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dfc9602f-fb88-419a-8955-6d7c00a52158-2023-03-03T170000.000Z","Syndromic Disorders","","",""
"CEACAM16","HGNC:31948","https://search.clinicalgenome.org/kb/genes/HGNC:31948","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","moderate evidence (09/21/2022) | strong evidence (12/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e25cadf1-752a-495d-aaf2-30565519518a-2022-09-21T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bcc9ab02-1df0-485a-a806-2651171120cd-2022-12-21T170000.000Z","Hearing Loss | Hearing Loss","","",""
"CEBPA","HGNC:1833","https://search.clinicalgenome.org/kb/genes/HGNC:1833","acute myeloid leukemia","MONDO:0018874","https://search.clinicalgenome.org/kb/conditions/MONDO:0018874","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (06/09/2022)","0 - No Evidence for Triplosensitivity (06/09/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1833","Dosage Working Group","definitive evidence (08/18/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4234367e-149b-4f13-9243-341396fb4ccf-2019-08-18T155916.225Z","Hereditary Cancer","","",""
"CEBPE","HGNC:1836","https://search.clinicalgenome.org/kb/genes/HGNC:1836","specific granule deficiency 1","MONDO:0044207","https://search.clinicalgenome.org/kb/conditions/MONDO:0044207","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1836","Dosage Working Group","","","","","",""
"CEL","HGNC:1848","https://search.clinicalgenome.org/kb/genes/HGNC:1848","maturity-onset diabetes of the young type 8","MONDO:0012348","https://search.clinicalgenome.org/kb/conditions/MONDO:0012348","Autosomal dominant inheritance","","","","","moderate evidence (09/13/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06571680-3730-4075-8e65-f6de7ddd3e62-2023-09-13T160000.000Z","Monogenic Diabetes","","",""
"CELF4","HGNC:14015","https://search.clinicalgenome.org/kb/genes/HGNC:14015","intellectual disability","MONDO:0001071","https://search.clinicalgenome.org/kb/conditions/MONDO:0001071","N/A","1 - Little Evidence for Haploinsufficiency (12/07/2022)","0 - No Evidence for Triplosensitivity (12/07/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14015","Dosage Working Group","","","","","",""
"CEMIP","HGNC:29213","https://search.clinicalgenome.org/kb/genes/HGNC:29213","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","disputing (07/17/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27d840d2-1f58-4d1c-9f6e-307db9f41b60-2018-07-17T160000.000Z","Hearing Loss","","",""
"CENPE","HGNC:1856","https://search.clinicalgenome.org/kb/genes/HGNC:1856","autosomal recessive primary microcephaly","MONDO:0016660","https://search.clinicalgenome.org/kb/conditions/MONDO:0016660","Autosomal recessive inheritance","","","","","limited evidence (12/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_830f266d-32bd-4d1f-9867-e97ffe6f2eae-2023-12-19T180000.000Z","Brain Malformations","","",""
"CEP104","HGNC:24866","https://search.clinicalgenome.org/kb/genes/HGNC:24866","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","definitive evidence (01/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be550486-4da7-4de4-9db4-6f5cdb98ff39-2025-01-28T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"CEP152","HGNC:29298","https://search.clinicalgenome.org/kb/genes/HGNC:29298","microcephaly with or without short stature","MONDO:0100346","https://search.clinicalgenome.org/kb/conditions/MONDO:0100346","Autosomal recessive inheritance","","","","","definitive evidence (06/28/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52841ad8-48fd-4b71-bf08-828656cd83f6-2022-06-28T160000.000Z","Brain Malformations","","",""
"CEP164","HGNC:29182","https://search.clinicalgenome.org/kb/genes/HGNC:29182","CEP164-related ciliopathy","MONDO:0700344","https://search.clinicalgenome.org/kb/conditions/MONDO:0700344","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29182","Dosage Working Group","definitive evidence (10/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_961b81f6-7ad1-49e2-b675-c035b4d8d35d-2021-10-27T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"CEP164","HGNC:29182","https://search.clinicalgenome.org/kb/genes/HGNC:29182","nephronophthisis 15","MONDO:0013917","https://search.clinicalgenome.org/kb/conditions/MONDO:0013917","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29182","Dosage Working Group","","","","","",""
"CEP290","HGNC:29021","https://search.clinicalgenome.org/kb/genes/HGNC:29021","CEP290-related ciliopathy","MONDO:0100451","https://search.clinicalgenome.org/kb/conditions/MONDO:0100451","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2012)","0 - No Evidence for Triplosensitivity (08/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29021","Dosage Working Group","definitive evidence (02/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec24317e-70bc-48a0-999b-f960f951e8dd-2022-02-03T170000.000Z","Retina","","",""
"CEP290","HGNC:29021","https://search.clinicalgenome.org/kb/genes/HGNC:29021","Joubert syndrome and related disorders","MONDO:0015369","https://search.clinicalgenome.org/kb/conditions/MONDO:0015369","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2012)","0 - No Evidence for Triplosensitivity (08/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29021","Dosage Working Group","","","","","",""
"CEP57","HGNC:30794","https://search.clinicalgenome.org/kb/genes/HGNC:30794","mosaic variegated aneuploidy syndrome 2","MONDO:0013582","https://search.clinicalgenome.org/kb/conditions/MONDO:0013582","Autosomal recessive inheritance","","","","","definitive evidence (11/22/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c44921de-14cf-4907-8bef-1525329ee89c-2019-11-22T145303.972Z","Hereditary Cancer","","",""
"CEP78","HGNC:25740","https://search.clinicalgenome.org/kb/genes/HGNC:25740","cone-rod dystrophy and hearing loss","MONDO:0014980","https://search.clinicalgenome.org/kb/conditions/MONDO:0014980","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/23/2017)","0 - No Evidence for Triplosensitivity (10/23/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25740","Dosage Working Group","strong evidence (04/12/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8149","Hearing Loss","","",""
"CEP78","HGNC:25740","https://search.clinicalgenome.org/kb/genes/HGNC:25740","cone-rod dystrophy and hearing loss 1","MONDO:0020778","https://search.clinicalgenome.org/kb/conditions/MONDO:0020778","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (10/23/2017)","0 - No Evidence for Triplosensitivity (10/23/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25740","Dosage Working Group","","","","","",""
"CEP85L","HGNC:21638","https://search.clinicalgenome.org/kb/genes/HGNC:21638","lissencephaly 10","MONDO:0030031","https://search.clinicalgenome.org/kb/conditions/MONDO:0030031","Autosomal dominant inheritance","","","","","definitive evidence (09/24/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30a3191e-5ee3-467c-afa1-27fada71f9ea-2024-09-24T170000.000Z","Brain Malformations","","",""
"CERKL","HGNC:21699","https://search.clinicalgenome.org/kb/genes/HGNC:21699","CERKL-related retinopathy","MONDO:0800401","https://search.clinicalgenome.org/kb/conditions/MONDO:0800401","Autosomal recessive inheritance","","","","","definitive evidence (09/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a3003820-dc03-4eb1-921a-6eaee749fa9f-2022-09-01T160000.000Z","Retina","","",""
"CERS1","HGNC:14253","https://search.clinicalgenome.org/kb/genes/HGNC:14253","progressive myoclonus epilepsy","MONDO:0020074","https://search.clinicalgenome.org/kb/conditions/MONDO:0020074","Autosomal recessive inheritance","","","","","moderate evidence (07/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b06288c1-72ae-4ed0-8a27-f886547a8808-2024-07-16T170000.000Z","Epilepsy","","",""
"CERS3","HGNC:23752","https://search.clinicalgenome.org/kb/genes/HGNC:23752","autosomal recessive congenital ichthyosis 9","MONDO:0014010","https://search.clinicalgenome.org/kb/conditions/MONDO:0014010","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23752","Dosage Working Group","","","","","",""
"CFAP221","HGNC:33720","https://search.clinicalgenome.org/kb/genes/HGNC:33720","primary ciliary dyskinesia","MONDO:0016575","https://search.clinicalgenome.org/kb/conditions/MONDO:0016575","Autosomal recessive inheritance","","","","","moderate evidence (08/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7c841e5-2973-4f23-8603-970e9e2cbc92-2023-08-10T160000.000Z","Motile Ciliopathy GCEP","","",""
"CFAP298","HGNC:1301","https://search.clinicalgenome.org/kb/genes/HGNC:1301","primary ciliary dyskinesia 26","MONDO:0014211","https://search.clinicalgenome.org/kb/conditions/MONDO:0014211","Autosomal recessive inheritance","","","","","moderate evidence (08/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f29143ae-869e-4e4c-8464-8c61f2c2663c-2023-08-10T160000.000Z","Motile Ciliopathy GCEP","","",""
"CFAP300","HGNC:28188","https://search.clinicalgenome.org/kb/genes/HGNC:28188","ciliary dyskinesia, primary, 38","MONDO:0054843","https://search.clinicalgenome.org/kb/conditions/MONDO:0054843","Autosomal recessive inheritance","","","","","definitive evidence (09/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bcfa4e4-37a3-43a7-9b4d-60554bc7600c-2022-09-08T110000.000Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"CFAP410","HGNC:1260","https://search.clinicalgenome.org/kb/genes/HGNC:1260","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Semidominant inheritance","","","","","limited evidence (12/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bde7edf1-ccfa-443e-a917-cf3d2dd9cba6-2023-12-12T180000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"CFAP418","HGNC:27232","https://search.clinicalgenome.org/kb/genes/HGNC:27232","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:27232","Dosage Working Group","definitive evidence (07/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_791b95ad-3c89-436c-aa6e-c153c1c1ea61-2024-07-11T160000.000Z","Retina","","",""
"CFAP418","HGNC:27232","https://search.clinicalgenome.org/kb/genes/HGNC:27232","cone-rod dystrophy 16","MONDO:0013786","https://search.clinicalgenome.org/kb/conditions/MONDO:0013786","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:27232","Dosage Working Group","","","","","",""
"CFAP43","HGNC:26684","https://search.clinicalgenome.org/kb/genes/HGNC:26684","normal pressure hydrocephalus","MONDO:0009366","https://search.clinicalgenome.org/kb/conditions/MONDO:0009366","Autosomal dominant inheritance","","","","","limited evidence (12/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff67c788-1b69-4da8-84df-f37741c9913f-2022-12-13T200000.000Z","Motile Ciliopathy GCEP","","",""
"CFAP43","HGNC:26684","https://search.clinicalgenome.org/kb/genes/HGNC:26684","spermatogenic failure 19","MONDO:0054723","https://search.clinicalgenome.org/kb/conditions/MONDO:0054723","Autosomal recessive inheritance","","","","","definitive evidence (12/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5055c70-e22e-47e5-af3b-04f3f2a0ed34-2022-12-14T200000.000Z","Motile Ciliopathy GCEP","","",""
"CFAP43","HGNC:26684","https://search.clinicalgenome.org/kb/genes/HGNC:26684","primary ciliary dyskinesia","MONDO:0016575","https://search.clinicalgenome.org/kb/conditions/MONDO:0016575","Mode of inheritance","","","","","disputing (12/29/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f2622390-3981-4f40-8c28-194fb13dd35a-2022-12-29T200000.000Z","Motile Ciliopathy GCEP","","",""
"CFAP46","HGNC:25247","https://search.clinicalgenome.org/kb/genes/HGNC:25247","CFAP46-related primary ciliary dyskinesia","MONDO:1010146","https://search.clinicalgenome.org/kb/conditions/MONDO:1010146","Autosomal recessive inheritance","","","","","limited evidence (10/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eabe809a-1203-4d42-9052-21f39717754f-2025-10-16T190000.000Z","Motile Ciliopathy GCEP","","",""
"CFAP47","HGNC:26708","https://search.clinicalgenome.org/kb/genes/HGNC:26708","spermatogenic failure, X-linked, 3","MONDO:0025354","https://search.clinicalgenome.org/kb/conditions/MONDO:0025354","X-linked inheritance","","","","","limited evidence (02/09/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d2e51e3-fec5-4aa8-a093-d316c4feec02-2023-02-09T170000.000Z","Motile Ciliopathy GCEP","","",""
"CFAP53","HGNC:26530","https://search.clinicalgenome.org/kb/genes/HGNC:26530","heterotaxy, visceral, 6, autosomal","MONDO:0013887","https://search.clinicalgenome.org/kb/conditions/MONDO:0013887","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26530","Dosage Working Group","","","","","",""
"CFAP54","HGNC:26456","https://search.clinicalgenome.org/kb/genes/HGNC:26456","ciliary dyskinesia, primary, 54","MONDO:0100607","https://search.clinicalgenome.org/kb/conditions/MONDO:0100607","Autosomal recessive inheritance","","","","","strong evidence (07/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f16ea0ce-7d5d-4bdc-92fe-52d111913161-2025-07-16T070000.000Z","Motile Ciliopathy GCEP","","",""
"CFAP57","HGNC:26485","https://search.clinicalgenome.org/kb/genes/HGNC:26485","primary ciliary dyskinesia","MONDO:0016575","https://search.clinicalgenome.org/kb/conditions/MONDO:0016575","Autosomal recessive inheritance","","","","","limited evidence (06/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50ed292f-0044-4c82-9419-a040cbcaf205-2022-06-23T160000.000Z","Motile Ciliopathy GCEP","","",""
"CFAP74","HGNC:29368","https://search.clinicalgenome.org/kb/genes/HGNC:29368","ciliary dyskinesia, primary, 49, without situs inversus","MONDO:0859353","https://search.clinicalgenome.org/kb/conditions/MONDO:0859353","Autosomal recessive inheritance","","","","","moderate evidence (06/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5a065a6-73b9-46ba-89a2-afadedb4b82c-2025-06-18T160000.000Z","Motile Ciliopathy GCEP","","",""
"CFB","HGNC:1037","https://search.clinicalgenome.org/kb/genes/HGNC:1037","atypical hemolytic-uremic syndrome with B factor anomaly","MONDO:0013042","https://search.clinicalgenome.org/kb/conditions/MONDO:0013042","Autosomal dominant inheritance","","","","","moderate evidence (07/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee0e92dc-42db-450e-8e8d-804e5fb4eda8-2023-07-02T160000.000Z","Complement-Mediated Kidney Diseases","","",""
"CFB","HGNC:1037","https://search.clinicalgenome.org/kb/genes/HGNC:1037","C3 glomerulonephritis","MONDO:0013892","https://search.clinicalgenome.org/kb/conditions/MONDO:0013892","Autosomal dominant inheritance","","","","","limited evidence (11/27/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58e4da7f-d0a0-4283-9780-abc69d7fddce-2024-11-27T170000.000Z","Complement-Mediated Kidney Diseases","","",""
"CFD","HGNC:2771","https://search.clinicalgenome.org/kb/genes/HGNC:2771","recurrent Neisseria infections due to factor D deficiency","MONDO:0013487","https://search.clinicalgenome.org/kb/conditions/MONDO:0013487","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2771","Dosage Working Group","","","","","",""
"CFH","HGNC:4883","https://search.clinicalgenome.org/kb/genes/HGNC:4883","atypical hemolytic-uremic syndrome","MONDO:0016244","https://search.clinicalgenome.org/kb/conditions/MONDO:0016244","Semidominant inheritance","","","","","definitive evidence (07/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0a234f8-1d8e-4a26-a76f-40219591c75c-2023-07-02T160000.000Z","Complement-Mediated Kidney Diseases","","",""
"CFH","HGNC:4883","https://search.clinicalgenome.org/kb/genes/HGNC:4883","C3 glomerulonephritis","MONDO:0013892","https://search.clinicalgenome.org/kb/conditions/MONDO:0013892","Autosomal recessive inheritance","","","","","definitive evidence (02/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9eeff991-b5ac-4d1b-a128-47fa2306c1c5-2024-02-21T170000.000Z","Complement-Mediated Kidney Diseases","","",""
"CFI","HGNC:5394","https://search.clinicalgenome.org/kb/genes/HGNC:5394","atypical hemolytic-uremic syndrome","MONDO:0016244","https://search.clinicalgenome.org/kb/conditions/MONDO:0016244","Autosomal dominant inheritance","","","","","definitive evidence (06/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a5fcd7c-0da5-4ba3-b0c6-2d40f985c418-2023-06-01T160000.000Z","Complement-Mediated Kidney Diseases","","",""
"CFI","HGNC:5394","https://search.clinicalgenome.org/kb/genes/HGNC:5394","C3 glomerulonephritis","MONDO:0013892","https://search.clinicalgenome.org/kb/conditions/MONDO:0013892","Autosomal dominant inheritance","","","","","moderate evidence (06/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_943f6c06-e32b-4052-8628-4c28de20c838-2024-06-28T160000.000Z","Complement-Mediated Kidney Diseases","","",""
"CFL2","HGNC:1875","https://search.clinicalgenome.org/kb/genes/HGNC:1875","nemaline myopathy 7","MONDO:0012538","https://search.clinicalgenome.org/kb/conditions/MONDO:0012538","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1875","Dosage Working Group","definitive evidence (11/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c04b972-6797-42e7-87e8-ee97eb0bbad7-2019-11-25T150139.061Z","Congenital Myopathies","","",""
"CFTR","HGNC:1884","https://search.clinicalgenome.org/kb/genes/HGNC:1884","cystic fibrosis","MONDO:0009061","https://search.clinicalgenome.org/kb/conditions/MONDO:0009061","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1884","Dosage Working Group","","","","","",""
"CHAMP1","HGNC:20311","https://search.clinicalgenome.org/kb/genes/HGNC:20311","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (06/10/2025)","0 - No Evidence for Triplosensitivity (06/10/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20311","Dosage Working Group","definitive evidence (01/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c67e6d5-1d58-4544-85e3-3078eec26231-2024-01-11T190000.000Z","Intellectual Disability and Autism","","",""
"CHAT","HGNC:1912","https://search.clinicalgenome.org/kb/genes/HGNC:1912","congenital myasthenic syndrome 6","MONDO:0009689","https://search.clinicalgenome.org/kb/conditions/MONDO:0009689","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1912","Dosage Working Group","definitive evidence (03/24/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e6d5128-7f30-407b-9d0b-88bf8a719eb8-2025-03-24T160000.000Z","Congenital Myopathies","","",""
"CHCHD10","HGNC:15559","https://search.clinicalgenome.org/kb/genes/HGNC:15559","frontotemporal dementia and/or amyotrophic lateral sclerosis 2","MONDO:0014395","https://search.clinicalgenome.org/kb/conditions/MONDO:0014395","Autosomal dominant inheritance","","","","","moderate evidence (09/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d154f67a-25ce-40d3-9de3-1f001753843a-2022-09-13T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"CHCHD10","HGNC:15559","https://search.clinicalgenome.org/kb/genes/HGNC:15559","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal dominant inheritance","","","","","definitive evidence (05/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6940c6eb-dacf-46ce-a08c-d8b9f98b04ae-2023-05-18T160000.000Z","Mitochondrial Diseases","","",""
"CHD1","HGNC:1915","https://search.clinicalgenome.org/kb/genes/HGNC:1915","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","limited evidence (04/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c8b091b-7709-4344-947b-ec74e8dbad58-2024-04-17T160000.000Z","Intellectual Disability and Autism","","",""
"CHD1L","HGNC:1916","https://search.clinicalgenome.org/kb/genes/HGNC:1916","congenital anomaly of kidney and urinary tract","MONDO:0019719","https://search.clinicalgenome.org/kb/conditions/MONDO:0019719","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (08/30/2018)","0 - No Evidence for Triplosensitivity (08/30/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1916","Dosage Working Group","limited evidence (11/18/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3220","General Gene Curation","","",""
"CHD2","HGNC:1917","https://search.clinicalgenome.org/kb/genes/HGNC:1917","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/23/2019)","0 - No Evidence for Triplosensitivity (10/23/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1917","Dosage Working Group","definitive evidence (07/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5af80ea6-31c6-47d2-a5a5-299380f5593c-2022-07-14T190000.000Z","Epilepsy","","",""
"CHD2","HGNC:1917","https://search.clinicalgenome.org/kb/genes/HGNC:1917","developmental and epileptic encephalopathy 94","MONDO:0014150","https://search.clinicalgenome.org/kb/conditions/MONDO:0014150","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/23/2019)","0 - No Evidence for Triplosensitivity (10/23/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1917","Dosage Working Group","","","","","",""
"CHD3","HGNC:1918","https://search.clinicalgenome.org/kb/genes/HGNC:1918","Snijders Blok-Campeau syndrome","MONDO:0032600","https://search.clinicalgenome.org/kb/conditions/MONDO:0032600","Autosomal dominant inheritance","","","","","definitive evidence (03/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e94c7c1-9c13-4189-8a9f-e9808916526f-2022-03-02T170000.000Z","Intellectual Disability and Autism","","",""
"CHD4","HGNC:1919","https://search.clinicalgenome.org/kb/genes/HGNC:1919","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (11/30/2022)","0 - No Evidence for Triplosensitivity (11/30/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1919","Dosage Working Group","definitive evidence (04/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1795399-d5bc-456d-bc6b-be07d7ab6af6-2023-04-19T160000.000Z","Intellectual Disability and Autism","","",""
"CHD4","HGNC:1919","https://search.clinicalgenome.org/kb/genes/HGNC:1919","Sifrim-Hitz-Weiss syndrome","MONDO:0014946","https://search.clinicalgenome.org/kb/conditions/MONDO:0014946","N/A","1 - Little Evidence for Haploinsufficiency (11/30/2022)","0 - No Evidence for Triplosensitivity (11/30/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1919","Dosage Working Group","","","","","",""
"CHD5","HGNC:16816","https://search.clinicalgenome.org/kb/genes/HGNC:16816","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (09/27/2022)","0 - No Evidence for Triplosensitivity (09/27/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16816","Dosage Working Group","","","","","",""
"CHD7","HGNC:20626","https://search.clinicalgenome.org/kb/genes/HGNC:20626","CHARGE syndrome","MONDO:0008965","https://search.clinicalgenome.org/kb/conditions/MONDO:0008965","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/11/2023)","0 - No Evidence for Triplosensitivity (04/11/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20626","Dosage Working Group","definitive evidence (08/22/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26ae5799-567b-431b-b981-3bc2f8635802-2018-08-22T160000.000Z","Hearing Loss","","",""
"CHD8","HGNC:20153","https://search.clinicalgenome.org/kb/genes/HGNC:20153","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/25/2018)","0 - No Evidence for Triplosensitivity (04/25/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20153","Dosage Working Group","definitive evidence (07/16/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3134b4e1-2fee-4025-99af-b2146cc2ccf8-2018-07-16T100000.000Z","Intellectual Disability and Autism","","",""
"CHEK1","HGNC:1925","https://search.clinicalgenome.org/kb/genes/HGNC:1925","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/10/2021)","0 - No Evidence for Triplosensitivity (11/10/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1925","Dosage Working Group","no known disease relationship (10/12/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8505","Breast/Ovarian Cancer","","",""
"CHEK1","HGNC:1925","https://search.clinicalgenome.org/kb/genes/HGNC:1925","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/10/2021)","0 - No Evidence for Triplosensitivity (11/10/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1925","Dosage Working Group","no known disease relationship (10/12/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8504","Breast/Ovarian Cancer","","",""
"CHEK2","HGNC:16627","https://search.clinicalgenome.org/kb/genes/HGNC:16627","hereditary nonpolyposis colon cancer","MONDO:0018630","https://search.clinicalgenome.org/kb/conditions/MONDO:0018630","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/08/2020)","0 - No Evidence for Triplosensitivity (01/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16627","Dosage Working Group","limited evidence (03/13/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9862","Breast/Ovarian Cancer","","",""
"CHEK2","HGNC:16627","https://search.clinicalgenome.org/kb/genes/HGNC:16627","CHEK2-related cancer predisposition","MONDO:0700271","https://search.clinicalgenome.org/kb/conditions/MONDO:0700271","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/08/2020)","0 - No Evidence for Triplosensitivity (01/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16627","Dosage Working Group","definitive evidence (11/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49566325-8710-4b72-ad64-79528585223d-2024-11-04T180000.000Z","Hereditary Cancer","","",""
"CHEK2","HGNC:16627","https://search.clinicalgenome.org/kb/genes/HGNC:16627","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/08/2020)","0 - No Evidence for Triplosensitivity (01/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16627","Dosage Working Group","refuting evidence (11/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e1071da-cc4a-4bbc-b3fa-4cc07393e74a-2024-11-04T180000.000Z","Hereditary Cancer","","",""
"CHEK2","HGNC:16627","https://search.clinicalgenome.org/kb/genes/HGNC:16627","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/08/2020)","0 - No Evidence for Triplosensitivity (01/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16627","Dosage Working Group","","","","Moderate Actionability (09/19/2017) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/04/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC127 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC127"," | "
"CHKB","HGNC:1938","https://search.clinicalgenome.org/kb/genes/HGNC:1938","megaconial type congenital muscular dystrophy","MONDO:0011246","https://search.clinicalgenome.org/kb/conditions/MONDO:0011246","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1938","Dosage Working Group","","","","","",""
"CHM","HGNC:1940","https://search.clinicalgenome.org/kb/genes/HGNC:1940","choroideremia","MONDO:0010557","https://search.clinicalgenome.org/kb/conditions/MONDO:0010557","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/24/2021)","0 - No Evidence for Triplosensitivity (03/24/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1940","Dosage Working Group","definitive evidence (10/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d84b01d6-8b3c-4a1e-bd25-68ee6962f374-2020-10-26T124704.094Z","Retina","","",""
"CHMP1A","HGNC:8740","https://search.clinicalgenome.org/kb/genes/HGNC:8740","pontocerebellar hypoplasia type 8","MONDO:0013990","https://search.clinicalgenome.org/kb/conditions/MONDO:0013990","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8740","Dosage Working Group","","","","","",""
"CHMP2B","HGNC:24537","https://search.clinicalgenome.org/kb/genes/HGNC:24537","frontotemporal dementia and/or amyotrophic lateral sclerosis 7","MONDO:0010936","https://search.clinicalgenome.org/kb/conditions/MONDO:0010936","Autosomal dominant inheritance","","","","","definitive evidence (07/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_287cab44-b8b6-411c-903a-6214ac5e98af-2022-07-12T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"CHN1","HGNC:1943","https://search.clinicalgenome.org/kb/genes/HGNC:1943","Duane retraction syndrome 2","MONDO:0011444","https://search.clinicalgenome.org/kb/conditions/MONDO:0011444","Autosomal dominant inheritance","","","","","moderate evidence (07/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c19544e0-2fb1-4d8a-b1ad-f493068f76bb-2022-07-26T160000.000Z","Brain Malformations","","",""
"CHRD","HGNC:1949","https://search.clinicalgenome.org/kb/genes/HGNC:1949","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal recessive inheritance","","","","","limited evidence (10/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e02b93a-df51-490f-bc2a-d0881cff957d-2023-10-17T040000.000Z","Congenital Heart Disease","","",""
"CHRDL1","HGNC:29861","https://search.clinicalgenome.org/kb/genes/HGNC:29861","isolated congenital megalocornea","MONDO:0010649","https://search.clinicalgenome.org/kb/conditions/MONDO:0010649","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/08/2016)","0 - No Evidence for Triplosensitivity (12/08/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29861","Dosage Working Group","","","","","",""
"CHRNA2","HGNC:1956","https://search.clinicalgenome.org/kb/genes/HGNC:1956","familial sleep-related hypermotor epilepsy","MONDO:0000030","https://search.clinicalgenome.org/kb/conditions/MONDO:0000030","Autosomal dominant inheritance","","","","","limited evidence (12/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f832b8a-af5a-494e-bfdb-70cc619addf1-2020-12-25T015652.186Z","Epilepsy","","",""
"CHRNA2","HGNC:1956","https://search.clinicalgenome.org/kb/genes/HGNC:1956","benign familial infantile epilepsy","MONDO:0017615","https://search.clinicalgenome.org/kb/conditions/MONDO:0017615","Autosomal dominant inheritance","","","","","disputing (01/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7916abab-d963-4e9c-8913-1decc21b680c-2020-01-07T050000.000Z","Epilepsy","","",""
"CHRNA4","HGNC:1958","https://search.clinicalgenome.org/kb/genes/HGNC:1958","familial sleep-related hypermotor epilepsy","MONDO:0000030","https://search.clinicalgenome.org/kb/conditions/MONDO:0000030","Autosomal dominant inheritance","","","","","definitive evidence (02/18/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3aa0108-5514-48ba-a09c-5506b2030d1f-2020-02-18T170000.000Z","Epilepsy","","",""
"CHRNA7","HGNC:1960","https://search.clinicalgenome.org/kb/genes/HGNC:1960","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Mode of inheritance","0 - No Evidence for Haploinsufficiency (05/10/2018)","0 - No Evidence for Triplosensitivity (05/10/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1960","Dosage Working Group","refuting evidence (02/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33edac94-9867-4b3f-9d46-2d7a86f4301b-2023-02-07T170000.000Z","Epilepsy","","",""
"CHRNB1","HGNC:1961","https://search.clinicalgenome.org/kb/genes/HGNC:1961","congenital myasthenic syndrome 2C","MONDO:0014582","https://search.clinicalgenome.org/kb/conditions/MONDO:0014582","Autosomal recessive inheritance","","","","","definitive evidence (07/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f9904daf-082e-487c-b3c8-06c138911d18-2025-07-28T160000.000Z","Congenital Myopathies","","",""
"CHRNB2","HGNC:1962","https://search.clinicalgenome.org/kb/genes/HGNC:1962","familial sleep-related hypermotor epilepsy","MONDO:0000030","https://search.clinicalgenome.org/kb/conditions/MONDO:0000030","Autosomal dominant inheritance","","","","","definitive evidence (02/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed365ac2-8cfa-4ae9-8fef-323dd596a22f-2023-02-07T170000.000Z","Epilepsy","","",""
"CHRNG","HGNC:1967","https://search.clinicalgenome.org/kb/genes/HGNC:1967","CHRNG-associated hypo-akinesia disorder of prenatal onset","MONDO:0100158","https://search.clinicalgenome.org/kb/conditions/MONDO:0100158","Autosomal recessive inheritance","","","","","definitive evidence (09/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c68f759b-0c39-417c-a192-99f9c0e4eeb5-2023-09-21T160000.000Z","Prenatal","","",""
"CHST3","HGNC:1971","https://search.clinicalgenome.org/kb/genes/HGNC:1971","spondyloepiphyseal dysplasia with congenital joint dislocations","MONDO:0007738","https://search.clinicalgenome.org/kb/conditions/MONDO:0007738","Autosomal recessive inheritance","","","","","definitive evidence (08/04/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d3d5a41-bc8d-4a05-bd99-abe526bd391a-2025-08-04T160000.000Z","Skeletal Disorders","","",""
"CHST6","HGNC:6938","https://search.clinicalgenome.org/kb/genes/HGNC:6938","macular corneal dystrophy","MONDO:0009020","https://search.clinicalgenome.org/kb/conditions/MONDO:0009020","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6938","Dosage Working Group","","","","","",""
"CHSY1","HGNC:17198","https://search.clinicalgenome.org/kb/genes/HGNC:17198","temtamy preaxial brachydactyly syndrome","MONDO:0011533","https://search.clinicalgenome.org/kb/conditions/MONDO:0011533","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17198","Dosage Working Group","","","","","",""
"CHUK","HGNC:1974","https://search.clinicalgenome.org/kb/genes/HGNC:1974","Bartsocas-Papas syndrome 2","MONDO:0859154","https://search.clinicalgenome.org/kb/conditions/MONDO:0859154","Autosomal recessive inheritance","","","","","moderate evidence (06/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c75e589b-683e-4b4f-b2f5-59e1eadf42d1-2024-06-07T170000.000Z","SCID-CID","","",""
"CIB2","HGNC:24579","https://search.clinicalgenome.org/kb/genes/HGNC:24579","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","definitive evidence (02/20/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4187cb6-182f-43fc-aeec-d27297c36bdb-2018-02-20T170000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CIB2","HGNC:24579","https://search.clinicalgenome.org/kb/genes/HGNC:24579","Usher syndrome type 1","MONDO:0010168","https://search.clinicalgenome.org/kb/conditions/MONDO:0010168","Autosomal recessive inheritance","","","","","refuting evidence (02/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95709038-78a4-4043-a054-9cbe245d2588-2019-02-19T170000.000Z","Hearing Loss","","",""
"CIB2","HGNC:24579","https://search.clinicalgenome.org/kb/genes/HGNC:24579","autosomal recessive nonsyndromic hearing loss 48","MONDO:0012273","https://search.clinicalgenome.org/kb/conditions/MONDO:0012273","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CIB2","HGNC:24579","https://search.clinicalgenome.org/kb/genes/HGNC:24579","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CIB2","HGNC:24579","https://search.clinicalgenome.org/kb/genes/HGNC:24579","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CIC","HGNC:14214","https://search.clinicalgenome.org/kb/genes/HGNC:14214","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/08/2022)","0 - No Evidence for Triplosensitivity (11/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14214","Dosage Working Group","definitive evidence (01/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0f9a222-8872-4054-b767-25f8fb4e404a-2023-01-18T110000.000Z","Intellectual Disability and Autism","","",""
"CIDEC","HGNC:24229","https://search.clinicalgenome.org/kb/genes/HGNC:24229","CIDEC-related familial partial lipodystrophy","MONDO:0014098","https://search.clinicalgenome.org/kb/conditions/MONDO:0014098","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24229","Dosage Working Group","","","","","",""
"CIITA","HGNC:7067","https://search.clinicalgenome.org/kb/genes/HGNC:7067","MHC class II deficiency","MONDO:0008855","https://search.clinicalgenome.org/kb/conditions/MONDO:0008855","Autosomal recessive inheritance","","","","","definitive evidence (11/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0dab225e-0bdd-4f96-a351-4e490601ba15-2022-11-03T170000.000Z","SCID-CID","","",""
"CISD2","HGNC:24212","https://search.clinicalgenome.org/kb/genes/HGNC:24212","Wolfram syndrome","MONDO:0018105","https://search.clinicalgenome.org/kb/conditions/MONDO:0018105","Autosomal recessive inheritance","","","","","definitive evidence (06/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a18d59c-c00c-4bb3-b6d6-1e59b92d1313-2023-06-01T160000.000Z","Hearing Loss","","",""
"CITED2","HGNC:1987","https://search.clinicalgenome.org/kb/genes/HGNC:1987","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/29/2023)","0 - No Evidence for Triplosensitivity (11/29/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1987","Dosage Working Group","moderate evidence (09/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_007f4832-e639-4b27-9cc0-8b8cfaf45534-2023-09-05T160000.000Z","Congenital Heart Disease","","",""
"CITED2","HGNC:1987","https://search.clinicalgenome.org/kb/genes/HGNC:1987","congenital heart defects, multiple types","MONDO:0000119","https://search.clinicalgenome.org/kb/conditions/MONDO:0000119","N/A","0 - No Evidence for Haploinsufficiency (11/29/2023)","0 - No Evidence for Triplosensitivity (11/29/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1987","Dosage Working Group","","","","","",""
"CLCF1","HGNC:17412","https://search.clinicalgenome.org/kb/genes/HGNC:17412","cold-induced sweating syndrome 2","MONDO:0012467","https://search.clinicalgenome.org/kb/conditions/MONDO:0012467","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17412","Dosage Working Group","","","","","",""
"CLCN2","HGNC:2020","https://search.clinicalgenome.org/kb/genes/HGNC:2020","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","","","","","refuting evidence (03/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba2a1616-b3d7-4762-a546-c838333db683-2022-03-15T040000.000Z","Epilepsy","","",""
"CLCN4","HGNC:2022","https://search.clinicalgenome.org/kb/genes/HGNC:2022","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (07/27/2022)","0 - No Evidence for Triplosensitivity (07/27/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2022","Dosage Working Group","definitive evidence (10/20/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54fbcbc8-77d7-4496-8527-1171cdd7452c-2017-10-20T100000.000Z","Intellectual Disability and Autism","","",""
"CLCN5","HGNC:2023","https://search.clinicalgenome.org/kb/genes/HGNC:2023","Dent disease type 1","MONDO:0010225","https://search.clinicalgenome.org/kb/conditions/MONDO:0010225","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/18/2012)","0 - No Evidence for Triplosensitivity (10/18/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2023","Dosage Working Group","definitive evidence (07/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c5b5abc-4f1f-4491-b5db-5208906f0f1b-2022-07-21T160000.000Z","Tubulopathy","","",""
"CLCN6","HGNC:2024","https://search.clinicalgenome.org/kb/genes/HGNC:2024","neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities","MONDO:0030947","https://search.clinicalgenome.org/kb/conditions/MONDO:0030947","Autosomal dominant inheritance","","","","","moderate evidence (06/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6226904f-234f-490b-8353-7d6c63bd8724-2024-06-07T040000.000Z","Lysosomal Diseases GCEP","","",""
"CLCN7","HGNC:2025","https://search.clinicalgenome.org/kb/genes/HGNC:2025","autosomal recessive osteopetrosis 4","MONDO:0012676","https://search.clinicalgenome.org/kb/conditions/MONDO:0012676","Autosomal recessive inheritance","","","","","definitive evidence (10/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_651b6ac5-131e-48b2-9869-71f2a9b42dbe-2023-10-04T160000.000Z","Skeletal Disorders","","",""
"CLCN7","HGNC:2025","https://search.clinicalgenome.org/kb/genes/HGNC:2025","hypopigmentation, organomegaly, and delayed myelination and development","MONDO:0032805","https://search.clinicalgenome.org/kb/conditions/MONDO:0032805","Autosomal dominant inheritance","","","","","moderate evidence (12/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e47aa25-2107-4e36-8fa8-f9e81eb9de69-2023-12-05T170000.000Z","Lysosomal Diseases GCEP","","",""
"CLCN7","HGNC:2025","https://search.clinicalgenome.org/kb/genes/HGNC:2025","autosomal dominant osteopetrosis 2","MONDO:0008156","https://search.clinicalgenome.org/kb/conditions/MONDO:0008156","Autosomal dominant inheritance","","","","","definitive evidence (12/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23840c1f-9d30-4ccf-9fc0-604a0cb12eb4-2023-12-04T170000.000Z","Skeletal Disorders","","",""
"CLCNKA","HGNC:2026","https://search.clinicalgenome.org/kb/genes/HGNC:2026","Bartter disease type 4B","MONDO:0000909","https://search.clinicalgenome.org/kb/conditions/MONDO:0000909","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (05/17/2012)","0 - No Evidence for Triplosensitivity (05/17/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2026","Dosage Working Group","","","","","",""
"CLCNKB","HGNC:2027","https://search.clinicalgenome.org/kb/genes/HGNC:2027","Bartter disease type 3","MONDO:0011822","https://search.clinicalgenome.org/kb/conditions/MONDO:0011822","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (11/17/2011)","0 - No Evidence for Triplosensitivity (11/17/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2027","Dosage Working Group","","","","","",""
"CLDN14","HGNC:2035","https://search.clinicalgenome.org/kb/genes/HGNC:2035","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2035","Dosage Working Group","definitive evidence (05/01/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17528cdb-97e0-4128-92de-9e419902aa62-2018-05-01T160000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CLDN14","HGNC:2035","https://search.clinicalgenome.org/kb/genes/HGNC:2035","autosomal recessive nonsyndromic hearing loss 29","MONDO:0013537","https://search.clinicalgenome.org/kb/conditions/MONDO:0013537","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2035","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CLDN14","HGNC:2035","https://search.clinicalgenome.org/kb/genes/HGNC:2035","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2035","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CLDN14","HGNC:2035","https://search.clinicalgenome.org/kb/genes/HGNC:2035","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2035","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"CLDN16","HGNC:2037","https://search.clinicalgenome.org/kb/genes/HGNC:2037","renal hypomagnesemia 3","MONDO:0009550","https://search.clinicalgenome.org/kb/conditions/MONDO:0009550","Autosomal recessive inheritance","","","","","definitive evidence (12/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd2b60d4-b932-4d0b-bc46-d6b0827a6333-2023-12-06T050000.000Z","Tubulopathy","","",""
"CLIC2","HGNC:2063","https://search.clinicalgenome.org/kb/genes/HGNC:2063","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","","","","","disputing (02/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e8ec6b8-5189-43eb-a741-833c77e7ce91-2021-02-16T170000.000Z","Intellectual Disability and Autism","","",""
"CLMP","HGNC:24039","https://search.clinicalgenome.org/kb/genes/HGNC:24039","congenital short bowel syndrome, autosomal recessive","MONDO:0020718","https://search.clinicalgenome.org/kb/conditions/MONDO:0020718","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24039","Dosage Working Group","","","","","",""
"CLN3","HGNC:2074","https://search.clinicalgenome.org/kb/genes/HGNC:2074","neuronal ceroid lipofuscinosis","MONDO:0016295","https://search.clinicalgenome.org/kb/conditions/MONDO:0016295","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2074","Dosage Working Group","definitive evidence (04/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6be652b4-092f-4d1c-9606-4dfeb689c4b9-2023-04-04T040000.000Z","Epilepsy","","",""
"CLN3","HGNC:2074","https://search.clinicalgenome.org/kb/genes/HGNC:2074","neuronal ceroid lipofuscinosis 3","MONDO:0008767","https://search.clinicalgenome.org/kb/conditions/MONDO:0008767","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2074","Dosage Working Group","","","","","",""
"CLN5","HGNC:2076","https://search.clinicalgenome.org/kb/genes/HGNC:2076","neuronal ceroid lipofuscinosis","MONDO:0016295","https://search.clinicalgenome.org/kb/conditions/MONDO:0016295","Autosomal recessive inheritance","","","","","definitive evidence (09/08/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a522b1d6-5ade-4749-94b8-d5426bbe5961-2021-09-08T023930.981Z","Epilepsy","","",""
"CLN6","HGNC:2077","https://search.clinicalgenome.org/kb/genes/HGNC:2077","neuronal ceroid lipofuscinosis","MONDO:0016295","https://search.clinicalgenome.org/kb/conditions/MONDO:0016295","Autosomal recessive inheritance","","","","","definitive evidence (12/01/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09654b45-6649-4d11-b43e-aeb6d20fb86d-2020-12-01T170000.000Z","Epilepsy","","",""
"CLN8","HGNC:2079","https://search.clinicalgenome.org/kb/genes/HGNC:2079","neuronal ceroid lipofuscinosis","MONDO:0016295","https://search.clinicalgenome.org/kb/conditions/MONDO:0016295","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2079","Dosage Working Group","definitive evidence (09/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_68775ed0-576e-4ee7-90f2-d16329ecd7c1-2020-09-07T220116.243Z","Epilepsy","","",""
"CLN8","HGNC:2079","https://search.clinicalgenome.org/kb/genes/HGNC:2079","neuronal ceroid lipofuscinosis 8","MONDO:0010830","https://search.clinicalgenome.org/kb/conditions/MONDO:0010830","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2079","Dosage Working Group","","","","","",""
"CLPB","HGNC:30664","https://search.clinicalgenome.org/kb/genes/HGNC:30664","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (11/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_789c591d-1de7-4652-a0d1-f895b639233e-2020-11-23T201057.415Z","Mitochondrial Diseases","","",""
"CLPP","HGNC:2084","https://search.clinicalgenome.org/kb/genes/HGNC:2084","Perrault syndrome 3","MONDO:0013588","https://search.clinicalgenome.org/kb/conditions/MONDO:0013588","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/06/2018)","0 - No Evidence for Triplosensitivity (03/06/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2084","Dosage Working Group","definitive evidence (03/27/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15291cb2-a541-4f88-91c8-0b441e3b64cb-2018-03-27T160000.000Z","Hearing Loss","","",""
"CLRN1","HGNC:12605","https://search.clinicalgenome.org/kb/genes/HGNC:12605","Usher syndrome type 3","MONDO:0016485","https://search.clinicalgenome.org/kb/conditions/MONDO:0016485","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12605","Dosage Working Group","definitive evidence (03/02/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8400","Hearing Loss","","",""
"CLRN1","HGNC:12605","https://search.clinicalgenome.org/kb/genes/HGNC:12605","Usher syndrome type 3A","MONDO:0010170","https://search.clinicalgenome.org/kb/conditions/MONDO:0010170","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12605","Dosage Working Group","","","","","",""
"CLRN2","HGNC:33939","https://search.clinicalgenome.org/kb/genes/HGNC:33939","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","moderate evidence (09/23/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_078ef57b-27ff-4a88-b350-d549449c524e-2025-09-23T160000.000Z","Hearing Loss","","",""
"CLTC","HGNC:2092","https://search.clinicalgenome.org/kb/genes/HGNC:2092","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/27/2022)","0 - No Evidence for Triplosensitivity (09/27/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2092","Dosage Working Group","","","","","",""
"CLXN","HGNC:25678","https://search.clinicalgenome.org/kb/genes/HGNC:25678","ciliary dyskinesia, primary, 53","MONDO:0957991","https://search.clinicalgenome.org/kb/conditions/MONDO:0957991","Autosomal recessive inheritance","","","","","strong evidence (04/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18721467-867b-4687-b4f2-5af09951ada5-2025-04-10T160000.000Z","Motile Ciliopathy GCEP","","",""
"CNGA1","HGNC:2148","https://search.clinicalgenome.org/kb/genes/HGNC:2148","CNGA1-related retinopathy","MONDO:0800405","https://search.clinicalgenome.org/kb/conditions/MONDO:0800405","Autosomal recessive inheritance","","","","","definitive evidence (10/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdf9374a-2ec6-4852-ac0b-ec1a3e638245-2022-10-06T160000.000Z","Retina","","",""
"CNGA3","HGNC:2150","https://search.clinicalgenome.org/kb/genes/HGNC:2150","CNGA3-related retinopathy","MONDO:0800102","https://search.clinicalgenome.org/kb/conditions/MONDO:0800102","Autosomal recessive inheritance","","","","","definitive evidence (02/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39fe36b7-54c3-486b-a9f9-19bce71f096e-2022-02-03T170000.000Z","Retina","","",""
"CNGB1","HGNC:2151","https://search.clinicalgenome.org/kb/genes/HGNC:2151","CNGB1-related retinopathy","MONDO:0800403","https://search.clinicalgenome.org/kb/conditions/MONDO:0800403","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2151","Dosage Working Group","definitive evidence (09/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_664a3eaa-0139-4f5a-8f97-a4a7e00ddfd3-2022-09-01T160000.000Z","Retina","","",""
"CNGB1","HGNC:2151","https://search.clinicalgenome.org/kb/genes/HGNC:2151","retinitis pigmentosa 45","MONDO:0013413","https://search.clinicalgenome.org/kb/conditions/MONDO:0013413","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2151","Dosage Working Group","","","","","",""
"CNGB3","HGNC:2153","https://search.clinicalgenome.org/kb/genes/HGNC:2153","CNGB3-related retinopathy","MONDO:0100446","https://search.clinicalgenome.org/kb/conditions/MONDO:0100446","Autosomal recessive inheritance","","","","","definitive evidence (05/24/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa7bad05-3d4d-4a69-b4e9-82f9224a77f4-2022-05-24T171317.094Z","Retina","","",""
"CNKSR2","HGNC:19701","https://search.clinicalgenome.org/kb/genes/HGNC:19701","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/12/2021)","0 - No Evidence for Triplosensitivity (01/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19701","Dosage Working Group","definitive evidence (12/16/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_420ee599-c745-43b9-b9a9-c80dfd7f68a8-2020-12-16T170000.000Z","Intellectual Disability and Autism","","",""
"CNKSR2","HGNC:19701","https://search.clinicalgenome.org/kb/genes/HGNC:19701","intellectual disability, X-linked, syndromic, Houge type","MONDO:0030909","https://search.clinicalgenome.org/kb/conditions/MONDO:0030909","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/12/2021)","0 - No Evidence for Triplosensitivity (01/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19701","Dosage Working Group","","","","","",""
"CNNM2","HGNC:103","https://search.clinicalgenome.org/kb/genes/HGNC:103","hypomagnesemia, seizures, and intellectual disability 1","MONDO:0020787","https://search.clinicalgenome.org/kb/conditions/MONDO:0020787","Semidominant inheritance","","","","","definitive evidence (02/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_522bb617-c817-4536-a87b-01d4302d7bf0-2024-02-15T170000.000Z","Tubulopathy","","",""
"CNNM4","HGNC:105","https://search.clinicalgenome.org/kb/genes/HGNC:105","Jalili syndrome","MONDO:0009007","https://search.clinicalgenome.org/kb/conditions/MONDO:0009007","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:105","Dosage Working Group","definitive evidence (08/06/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3cedd07-df9e-4838-8a6b-b24b2802f223-2021-08-06T154836.361Z","Retina","","",""
"CNOT1","HGNC:7877","https://search.clinicalgenome.org/kb/genes/HGNC:7877","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/13/2022)","0 - No Evidence for Triplosensitivity (12/13/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7877","Dosage Working Group","definitive evidence (09/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0684b8e2-5552-44d3-a72e-2022e273e24f-2023-09-19T180000.000Z","Intellectual Disability and Autism","","",""
"CNOT1","HGNC:7877","https://search.clinicalgenome.org/kb/genes/HGNC:7877","holoprosencephaly 12 with or without pancreatic agenesis","MONDO:0032787","https://search.clinicalgenome.org/kb/conditions/MONDO:0032787","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/13/2022)","0 - No Evidence for Triplosensitivity (12/13/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7877","Dosage Working Group","limited evidence (09/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91d394c9-60fe-40cb-918b-9790a08873d9-2023-09-30T160000.000Z","Brain Malformations","","",""
"CNOT2","HGNC:7878","https://search.clinicalgenome.org/kb/genes/HGNC:7878","intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies","MONDO:0032832","https://search.clinicalgenome.org/kb/conditions/MONDO:0032832","N/A","1 - Little Evidence for Haploinsufficiency (11/08/2022)","0 - No Evidence for Triplosensitivity (11/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7878","Dosage Working Group","","","","","",""
"CNOT3","HGNC:7879","https://search.clinicalgenome.org/kb/genes/HGNC:7879","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (06/27/2018)","0 - No Evidence for Triplosensitivity (06/27/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7879","Dosage Working Group","definitive evidence (08/24/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_585384c5-8958-4934-af26-4040774a644c-2021-08-24T160000.000Z","Intellectual Disability and Autism","","",""
"CNOT9","HGNC:10445","https://search.clinicalgenome.org/kb/genes/HGNC:10445","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","limited evidence (03/31/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ed830a6-af3b-44a4-9a84-bd8feb175ed4-2025-03-31T220000.000Z","Intellectual Disability and Autism","","",""
"CNTN1","HGNC:2171","https://search.clinicalgenome.org/kb/genes/HGNC:2171","Compton-North congenital myopathy","MONDO:0012929","https://search.clinicalgenome.org/kb/conditions/MONDO:0012929","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2171","Dosage Working Group","","","","","",""
"CNTN2","HGNC:2172","https://search.clinicalgenome.org/kb/genes/HGNC:2172","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2172","Dosage Working Group","definitive evidence (11/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe53f9b9-cb21-49a2-8c24-80f63fc75f0f-2023-11-07T080000.000Z","Epilepsy","","",""
"CNTN2","HGNC:2172","https://search.clinicalgenome.org/kb/genes/HGNC:2172","epilepsy, familial adult myoclonic, 5","MONDO:0014167","https://search.clinicalgenome.org/kb/conditions/MONDO:0014167","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2172","Dosage Working Group","","","","","",""
"CNTN4","HGNC:2174","https://search.clinicalgenome.org/kb/genes/HGNC:2174","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (06/14/2022)","0 - No Evidence for Triplosensitivity (06/14/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2174","Dosage Working Group","disputing (04/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_716109ea-60b6-48d9-8ab7-b3883063bae0-2024-04-06T220000.000Z","Intellectual Disability and Autism","","",""
"CNTN6","HGNC:2176","https://search.clinicalgenome.org/kb/genes/HGNC:2176","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/28/2022)","0 - No Evidence for Triplosensitivity (09/28/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2176","Dosage Working Group","disputing (09/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bda9083a-7edc-4102-be62-e1c62d0a6bc2-2022-09-20T060000.000Z","Intellectual Disability and Autism","","",""
"CNTNAP2","HGNC:13830","https://search.clinicalgenome.org/kb/genes/HGNC:13830","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance | Autosomal recessive inheritance","1 - Little Evidence for Haploinsufficiency (10/23/2019)","0 - No Evidence for Triplosensitivity (10/23/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13830","Dosage Working Group","disputing (03/15/2021) | definitive evidence (06/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e91dc4be-821d-4f54-acdd-755a25070eec-2021-03-15T230000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3af732e2-062d-4bb3-a3cd-2045e460dc8f-2021-06-15T160000.000Z","Intellectual Disability and Autism | Epilepsy","","",""
"CNTNAP5","HGNC:18748","https://search.clinicalgenome.org/kb/genes/HGNC:18748","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (09/24/2024)","0 - No Evidence for Triplosensitivity (09/24/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18748","Dosage Working Group","disputing (08/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1df71cc1-112f-4382-a047-e078a820699c-2024-08-20T100000.000Z","Intellectual Disability and Autism","","",""
"COA3","HGNC:24990","https://search.clinicalgenome.org/kb/genes/HGNC:24990","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","limited evidence (08/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83ca0cfa-10b9-4bd5-86dd-83bef18e33dc-2022-08-15T160000.000Z","Mitochondrial Diseases","","",""
"COA7","HGNC:25716","https://search.clinicalgenome.org/kb/genes/HGNC:25716","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (08/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_971c1202-83cf-4ad1-9404-c4ef2fcf0880-2024-08-22T040000.000Z","Mitochondrial Diseases","","",""
"COA8","HGNC:20492","https://search.clinicalgenome.org/kb/genes/HGNC:20492","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (07/11/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7b2b04f9-275d-45e9-acc6-ee86bf20c782-2023-07-11T160000.000Z","Mitochondrial Diseases","","",""
"COCH","HGNC:2180","https://search.clinicalgenome.org/kb/genes/HGNC:2180","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","definitive evidence (01/05/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_998da390-3e32-4b80-a733-d64d87d5357b-2018-01-05T170000.000Z","Hearing Loss","","",""
"COG1","HGNC:6545","https://search.clinicalgenome.org/kb/genes/HGNC:6545","COG1-congenital disorder of glycosylation","MONDO:0012637","https://search.clinicalgenome.org/kb/conditions/MONDO:0012637","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6545","Dosage Working Group","moderate evidence (01/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6607c8c3-e293-49df-904d-da27aa8e0232-2024-01-03T170000.000Z","Congenital Disorders of Glycosylation","","",""
"COG2","HGNC:6546","https://search.clinicalgenome.org/kb/genes/HGNC:6546","congenital disorder of glycosylation, type IIq","MONDO:0054559","https://search.clinicalgenome.org/kb/conditions/MONDO:0054559","Autosomal recessive inheritance","","","","","limited evidence (02/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67d145eb-648f-4e00-b53f-9447d650cc3e-2024-02-07T170000.000Z","Congenital Disorders of Glycosylation","","",""
"COG3","HGNC:18619","https://search.clinicalgenome.org/kb/genes/HGNC:18619","congenital disorder of glycosylation","MONDO:0015286","https://search.clinicalgenome.org/kb/conditions/MONDO:0015286","Autosomal recessive inheritance","","","","","limited evidence (09/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d2120a6-1287-4cba-9f94-f071f0b1abd4-2024-09-19T160000.000Z","Congenital Disorders of Glycosylation","","",""
"COG4","HGNC:18620","https://search.clinicalgenome.org/kb/genes/HGNC:18620","COG4-congenital disorder of glycosylation","MONDO:0013281","https://search.clinicalgenome.org/kb/conditions/MONDO:0013281","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18620","Dosage Working Group","moderate evidence (05/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c9f2031-7487-45a5-abbe-ca2d27f1b09c-2023-05-17T180000.000Z","Congenital Disorders of Glycosylation","","",""
"COG5","HGNC:14857","https://search.clinicalgenome.org/kb/genes/HGNC:14857","COG5-congenital disorder of glycosylation","MONDO:0013325","https://search.clinicalgenome.org/kb/conditions/MONDO:0013325","Autosomal recessive inheritance","","","","","definitive evidence (12/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0104222e-f6a3-445c-becb-b45fa0f7f108-2024-12-15T170000.000Z","Congenital Disorders of Glycosylation","","",""
"COG6","HGNC:18621","https://search.clinicalgenome.org/kb/genes/HGNC:18621","COG6-congenital disorder of glycosylation","MONDO:0013810","https://search.clinicalgenome.org/kb/conditions/MONDO:0013810","Autosomal recessive inheritance","","","","","definitive evidence (12/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_600a651b-6e68-40c0-a50e-f1067c5e87bb-2024-12-08T170000.000Z","Prenatal","","",""
"COG7","HGNC:18622","https://search.clinicalgenome.org/kb/genes/HGNC:18622","COG7-congenital disorder of glycosylation","MONDO:0012118","https://search.clinicalgenome.org/kb/conditions/MONDO:0012118","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/09/2015)","0 - No Evidence for Triplosensitivity (04/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18622","Dosage Working Group","definitive evidence (10/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_398c1212-8417-499e-8427-79a752745aec-2024-10-19T170000.000Z","Congenital Disorders of Glycosylation","","",""
"COG8","HGNC:18623","https://search.clinicalgenome.org/kb/genes/HGNC:18623","COG8-congenital disorder of glycosylation","MONDO:0012635","https://search.clinicalgenome.org/kb/conditions/MONDO:0012635","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/25/2015)","0 - No Evidence for Triplosensitivity (03/25/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18623","Dosage Working Group","","","","","",""
"COL10A1","HGNC:2185","https://search.clinicalgenome.org/kb/genes/HGNC:2185","Schmid metaphyseal chondrodysplasia","MONDO:0007983","https://search.clinicalgenome.org/kb/conditions/MONDO:0007983","Autosomal dominant inheritance","","","","","definitive evidence (06/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5529304a-e8aa-4e44-a544-6864b8afe78a-2024-06-28T160000.000Z","Skeletal Disorders","","",""
"COL11A1","HGNC:2186","https://search.clinicalgenome.org/kb/genes/HGNC:2186","autosomal dominant nonsyndromic hearing loss","MONDO:0019587","https://search.clinicalgenome.org/kb/conditions/MONDO:0019587","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (10/19/2011)","0 - No Evidence for Triplosensitivity (10/19/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2186","Dosage Working Group","moderate evidence (06/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72d6c6cc-1332-45c0-ba33-fd6e2c17e7fb-2025-06-18T160000.000Z","Hearing Loss","","",""
"COL11A1","HGNC:2186","https://search.clinicalgenome.org/kb/genes/HGNC:2186","Stickler syndrome type 2","MONDO:0011493","https://search.clinicalgenome.org/kb/conditions/MONDO:0011493","N/A","1 - Little Evidence for Haploinsufficiency (10/19/2011)","0 - No Evidence for Triplosensitivity (10/19/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2186","Dosage Working Group","","","","","",""
"COL11A2","HGNC:2187","https://search.clinicalgenome.org/kb/genes/HGNC:2187","otospondylomegaepiphyseal dysplasia","MONDO:0008975","https://search.clinicalgenome.org/kb/conditions/MONDO:0008975","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","definitive evidence (12/20/2018) | definitive evidence (12/20/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_177bddd8-0566-4f80-a9f1-679ca96a7c60-2018-12-20T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27b13a91-0a04-4393-bf1c-4f8418154c9b-2018-12-20T170000.000Z","Hearing Loss | Hearing Loss","","",""
"COL11A2","HGNC:2187","https://search.clinicalgenome.org/kb/genes/HGNC:2187","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance | Autosomal dominant inheritance","","","","","moderate evidence (11/15/2023) | definitive evidence (11/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_561327b9-7c55-40c3-b83c-5a3ed9d75606-2023-11-15T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0665772a-ba94-4561-b597-364f7db7e4ca-2023-11-15T170000.000Z","Hearing Loss | Hearing Loss","","",""
"COL18A1","HGNC:2195","https://search.clinicalgenome.org/kb/genes/HGNC:2195","Knobloch syndrome 1","MONDO:0800167","https://search.clinicalgenome.org/kb/conditions/MONDO:0800167","Autosomal recessive inheritance","","","","","definitive evidence (02/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae24ab5e-a4a9-45eb-a52d-18e6dfebae53-2023-02-28T100000.000Z","Brain Malformations","","",""
"COL1A1","HGNC:2197","https://search.clinicalgenome.org/kb/genes/HGNC:2197","Caffey disease","MONDO:0007244","https://search.clinicalgenome.org/kb/conditions/MONDO:0007244","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/23/2012)","0 - No Evidence for Triplosensitivity (08/23/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2197","Dosage Working Group","definitive evidence (09/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21b43a7b-79d4-4adf-b1a4-cd26e21ba8fa-2023-09-28T040000.000Z","Skeletal Disorders","","",""
"COL1A1","HGNC:2197","https://search.clinicalgenome.org/kb/genes/HGNC:2197","osteogenesis imperfecta","MONDO:0019019","https://search.clinicalgenome.org/kb/conditions/MONDO:0019019","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/23/2012)","0 - No Evidence for Triplosensitivity (08/23/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2197","Dosage Working Group","definitive evidence (06/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_adc78f61-1e90-4496-ab30-b1fb0d6dcf5b-2022-06-06T160000.000Z","Skeletal Disorders","","",""
"COL1A1","HGNC:2197","https://search.clinicalgenome.org/kb/genes/HGNC:2197","COL1A1-related Ehlers-Danlos syndrome","MONDO:0100599","https://search.clinicalgenome.org/kb/conditions/MONDO:0100599","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/23/2012)","0 - No Evidence for Triplosensitivity (08/23/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2197","Dosage Working Group","definitive evidence (10/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da1aeef0-2dae-4b96-9ac8-946374a09cb6-2022-10-03T160000.000Z","Skeletal Disorders","","",""
"COL1A1","HGNC:2197","https://search.clinicalgenome.org/kb/genes/HGNC:2197","osteogenesis imperfecta type 1","MONDO:0008146","https://search.clinicalgenome.org/kb/conditions/MONDO:0008146","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/23/2012)","0 - No Evidence for Triplosensitivity (08/23/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2197","Dosage Working Group","","","","","",""
"COL1A2","HGNC:2198","https://search.clinicalgenome.org/kb/genes/HGNC:2198","Ehlers-Danlos syndrome, cardiac valvular type","MONDO:0009159","https://search.clinicalgenome.org/kb/conditions/MONDO:0009159","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (10/12/2012)","0 - No Evidence for Triplosensitivity (10/12/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2198","Dosage Working Group","definitive evidence (09/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66dcf444-5302-400f-aa44-1e12629af095-2023-09-28T040000.000Z","Skeletal Disorders","","",""
"COL1A2","HGNC:2198","https://search.clinicalgenome.org/kb/genes/HGNC:2198","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Mode of inheritance","0 - No Evidence for Haploinsufficiency (10/12/2012)","0 - No Evidence for Triplosensitivity (10/12/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2198","Dosage Working Group","disputing (09/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4e87080-7e90-4e19-a3dc-e986bfd01e0f-2024-09-09T160000.000Z","Congenital Heart Disease","","",""
"COL1A2","HGNC:2198","https://search.clinicalgenome.org/kb/genes/HGNC:2198","COL1A2-related osteogenesis imperfecta","MONDO:0100596","https://search.clinicalgenome.org/kb/conditions/MONDO:0100596","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/12/2012)","0 - No Evidence for Triplosensitivity (10/12/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2198","Dosage Working Group","definitive evidence (12/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d67b74d4-3c39-4632-9eba-106b99230f37-2022-12-05T170000.000Z","Skeletal Disorders","","",""
"COL1A2","HGNC:2198","https://search.clinicalgenome.org/kb/genes/HGNC:2198","COL1A2-related Ehlers-Danlos syndrome","MONDO:0100606","https://search.clinicalgenome.org/kb/conditions/MONDO:0100606","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/12/2012)","0 - No Evidence for Triplosensitivity (10/12/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2198","Dosage Working Group","definitive evidence (11/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25e0c6fa-1b72-4346-b182-0708de2d0420-2022-11-02T160000.000Z","Skeletal Disorders","","",""
"COL2A1","HGNC:2200","https://search.clinicalgenome.org/kb/genes/HGNC:2200","spondyloepiphyseal dysplasia, Stanescu type","MONDO:0014701","https://search.clinicalgenome.org/kb/conditions/MONDO:0014701","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/29/2020)","0 - No Evidence for Triplosensitivity (07/29/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2200","Dosage Working Group","moderate evidence (12/01/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_4843","General Gene Curation","","",""
"COL2A1","HGNC:2200","https://search.clinicalgenome.org/kb/genes/HGNC:2200","achondrogenesis type II","MONDO:0008702","https://search.clinicalgenome.org/kb/conditions/MONDO:0008702","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/29/2020)","0 - No Evidence for Triplosensitivity (07/29/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2200","Dosage Working Group","definitive evidence (10/05/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14640c06-c66e-4dc7-86ea-9b0850e51474-2020-10-05T040000.000Z","Skeletal Disorders","","",""
"COL2A1","HGNC:2200","https://search.clinicalgenome.org/kb/genes/HGNC:2200","platyspondylic dysplasia, Torrance type","MONDO:0007895","https://search.clinicalgenome.org/kb/conditions/MONDO:0007895","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/29/2020)","0 - No Evidence for Triplosensitivity (07/29/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2200","Dosage Working Group","definitive evidence (02/01/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a4c42c43-7b6a-4456-aeb1-7a00302a468b-2021-02-01T050000.000Z","Skeletal Disorders","","",""
"COL2A1","HGNC:2200","https://search.clinicalgenome.org/kb/genes/HGNC:2200","Kniest dysplasia","MONDO:0007987","https://search.clinicalgenome.org/kb/conditions/MONDO:0007987","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/29/2020)","0 - No Evidence for Triplosensitivity (07/29/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2200","Dosage Working Group","definitive evidence (12/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25a49ec9-69ab-4e51-a13a-fe1eaa50ae56-2021-12-15T183542.376Z","Skeletal Disorders","","",""
"COL2A1","HGNC:2200","https://search.clinicalgenome.org/kb/genes/HGNC:2200","spondyloperipheral dysplasia","MONDO:0010078","https://search.clinicalgenome.org/kb/conditions/MONDO:0010078","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/29/2020)","0 - No Evidence for Triplosensitivity (07/29/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2200","Dosage Working Group","definitive evidence (09/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4da6e1f-5aad-4541-a3ae-76ed4782a023-2023-09-28T040000.000Z","Skeletal Disorders","","",""
"COL2A1","HGNC:2200","https://search.clinicalgenome.org/kb/genes/HGNC:2200","Stickler syndrome type 1","MONDO:0007160","https://search.clinicalgenome.org/kb/conditions/MONDO:0007160","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/29/2020)","0 - No Evidence for Triplosensitivity (07/29/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2200","Dosage Working Group","definitive evidence (09/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3eb9287e-d731-417e-a814-9630b47301a4-2023-09-28T040000.000Z","Skeletal Disorders","","",""
"COL2A1","HGNC:2200","https://search.clinicalgenome.org/kb/genes/HGNC:2200","dysplasia of the proximal femoral epiphyses","MONDO:1030002","https://search.clinicalgenome.org/kb/conditions/MONDO:1030002","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/29/2020)","0 - No Evidence for Triplosensitivity (07/29/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2200","Dosage Working Group","definitive evidence (08/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4dd39f77-cafb-405c-871e-ce34eb55b5e0-2024-08-06T040000.000Z","Skeletal Disorders","","",""
"COL2A1","HGNC:2200","https://search.clinicalgenome.org/kb/genes/HGNC:2200","COL2A1-related spondyloepiphyseal dysplasia","MONDO:0100602","https://search.clinicalgenome.org/kb/conditions/MONDO:0100602","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/29/2020)","0 - No Evidence for Triplosensitivity (07/29/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2200","Dosage Working Group","definitive evidence (12/06/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b98d6207-3f9b-4e66-a478-85c31a9fdab8-2021-12-06T170000.000Z","Skeletal Disorders","","",""
"COL3A1","HGNC:2201","https://search.clinicalgenome.org/kb/genes/HGNC:2201","Ehlers-Danlos syndrome, vascular type","MONDO:0017314","https://search.clinicalgenome.org/kb/conditions/MONDO:0017314","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/12/2017)","0 - No Evidence for Triplosensitivity (01/12/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2201","Dosage Working Group","definitive evidence (02/27/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ce795591-1c7c-4a52-886a-a294293c67c3-2019-02-27T170000.000Z","General Gene Curation","Moderate Actionability (09/02/2020) | Moderate Actionability (09/02/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC132 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC132"," | "
"COL3A1","HGNC:2201","https://search.clinicalgenome.org/kb/genes/HGNC:2201","autosomal dominant Ehlers-Danlos syndrome, vascular type","MONDO:0007524","https://search.clinicalgenome.org/kb/conditions/MONDO:0007524","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/12/2017)","0 - No Evidence for Triplosensitivity (01/12/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2201","Dosage Working Group","","","","Moderate Actionability (09/02/2020) | Moderate Actionability (09/02/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC132 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC132"," | "
"COL4A3","HGNC:2204","https://search.clinicalgenome.org/kb/genes/HGNC:2204","Alport syndrome","MONDO:0018965","https://search.clinicalgenome.org/kb/conditions/MONDO:0018965","Semidominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/22/2013)","0 - No Evidence for Triplosensitivity (05/22/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2204","Dosage Working Group","definitive evidence (07/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1ed7d3b-4366-4f4a-98f2-80e431e2d8da-2021-07-26T023000.000Z","Glomerulopathy","Strong Actionability (11/04/2021) | Strong Actionability (11/04/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1044 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1044"," | "
"COL4A3","HGNC:2204","https://search.clinicalgenome.org/kb/genes/HGNC:2204","autosomal recessive Alport syndrome","MONDO:0008762","https://search.clinicalgenome.org/kb/conditions/MONDO:0008762","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (05/22/2013)","0 - No Evidence for Triplosensitivity (05/22/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2204","Dosage Working Group","","","","","",""
"COL4A4","HGNC:2206","https://search.clinicalgenome.org/kb/genes/HGNC:2206","Alport syndrome","MONDO:0018965","https://search.clinicalgenome.org/kb/conditions/MONDO:0018965","Semidominant inheritance","","","","","definitive evidence (08/24/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c235830a-a6f5-4cf6-b015-902da62f1b2e-2021-08-24T023000.000Z","Glomerulopathy","Strong Actionability (11/04/2021) | Strong Actionability (11/04/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1044 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1044"," | "
"COL4A5","HGNC:2207","https://search.clinicalgenome.org/kb/genes/HGNC:2207","Alport syndrome","MONDO:0018965","https://search.clinicalgenome.org/kb/conditions/MONDO:0018965","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/08/2020)","0 - No Evidence for Triplosensitivity (09/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2207","Dosage Working Group","definitive evidence (03/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0407dc2e-1cab-4043-889d-4695b043d7b3-2019-03-19T160000.000Z","Hearing Loss","Strong Actionability (11/04/2021) | Strong Actionability (11/04/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1044 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1044"," | "
"COL4A5","HGNC:2207","https://search.clinicalgenome.org/kb/genes/HGNC:2207","X-linked Alport syndrome","MONDO:0010520","https://search.clinicalgenome.org/kb/conditions/MONDO:0010520","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/08/2020)","0 - No Evidence for Triplosensitivity (09/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2207","Dosage Working Group","","","","","",""
"COL4A6","HGNC:2208","https://search.clinicalgenome.org/kb/genes/HGNC:2208","hearing loss, X-linked 6","MONDO:0010484","https://search.clinicalgenome.org/kb/conditions/MONDO:0010484","X-linked inheritance","","","","","limited evidence (02/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d026ef00-c6f3-4aa8-a61a-b354b68fe043-2022-02-16T170000.000Z","Hearing Loss","","",""
"COL5A1","HGNC:2209","https://search.clinicalgenome.org/kb/genes/HGNC:2209","Ehlers-Danlos syndrome, classic type","MONDO:0007522","https://search.clinicalgenome.org/kb/conditions/MONDO:0007522","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/14/2017)","0 - No Evidence for Triplosensitivity (12/14/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2209","Dosage Working Group","definitive evidence (03/24/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3133eacb-2ef9-4463-8031-11d10f0e91b9-2021-03-24T151331.225Z","General Gene Curation","Moderate Actionability (02/17/2025) | Moderate Actionability (02/17/2025)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC089 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC089"," | "
"COL5A1","HGNC:2209","https://search.clinicalgenome.org/kb/genes/HGNC:2209","Ehlers-Danlos syndrome, classic type, 1","MONDO:0019567","https://search.clinicalgenome.org/kb/conditions/MONDO:0019567","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/14/2017)","0 - No Evidence for Triplosensitivity (12/14/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2209","Dosage Working Group","","","","Moderate Actionability (02/17/2025) | Moderate Actionability (02/17/2025)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC089 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC089"," | "
"COL5A2","HGNC:2210","https://search.clinicalgenome.org/kb/genes/HGNC:2210","Ehlers-Danlos syndrome, classic type","MONDO:0007522","https://search.clinicalgenome.org/kb/conditions/MONDO:0007522","Autosomal dominant inheritance","","","","","definitive evidence (03/24/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1901d495-d33f-4741-88fd-4b66ac43bbad-2021-03-24T184245.711Z","General Gene Curation","Moderate Actionability (02/17/2025) | Moderate Actionability (02/17/2025)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC089 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC089"," | "
"COL5A2","HGNC:2210","https://search.clinicalgenome.org/kb/genes/HGNC:2210","Ehlers-Danlos syndrome, classic type, 2","MONDO:0019568","https://search.clinicalgenome.org/kb/conditions/MONDO:0019568","N/A","","","","","","","","Moderate Actionability (02/17/2025) | Moderate Actionability (02/17/2025)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC089 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC089"," | "
"COL6A1","HGNC:2211","https://search.clinicalgenome.org/kb/genes/HGNC:2211","collagen 6-related myopathy","MONDO:0100225","https://search.clinicalgenome.org/kb/conditions/MONDO:0100225","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","definitive evidence (09/26/2022) | definitive evidence (09/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95ee3b63-8083-49e2-9e20-a1006ac168dd-2022-09-26T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9de84294-8404-4bd0-a7c6-89a9a70eb408-2022-09-26T160000.000Z","Congenital Myopathies | Congenital Myopathies","","",""
"COL6A2","HGNC:2212","https://search.clinicalgenome.org/kb/genes/HGNC:2212","collagen 6-related myopathy","MONDO:0100225","https://search.clinicalgenome.org/kb/conditions/MONDO:0100225","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","definitive evidence (06/27/2022) | definitive evidence (06/27/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7a4dad5-f179-44ac-adcb-c5e15c11a1ec-2022-06-27T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c523dbfa-e08e-4bdc-82d4-6bf43480697c-2022-06-27T160000.000Z","Congenital Myopathies | Congenital Myopathies","","",""
"COL6A3","HGNC:2213","https://search.clinicalgenome.org/kb/genes/HGNC:2213","dystonia 27","MONDO:0014627","https://search.clinicalgenome.org/kb/conditions/MONDO:0014627","Autosomal recessive inheritance","","","","","limited evidence (08/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a109763-6fff-4da9-b826-7c2544d3f878-2025-08-25T160000.000Z","Congenital Myopathies","","",""
"COL6A3","HGNC:2213","https://search.clinicalgenome.org/kb/genes/HGNC:2213","collagen 6-related myopathy","MONDO:0100225","https://search.clinicalgenome.org/kb/conditions/MONDO:0100225","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","definitive evidence (06/27/2022) | definitive evidence (06/27/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37d30e5c-61f5-4e4a-9ee7-573a2ed704b3-2022-06-27T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_516ffd6c-c9ea-4d8a-8364-8ec4892ad464-2022-06-27T160000.000Z","Congenital Myopathies | Congenital Myopathies","","",""
"COL7A1","HGNC:2214","https://search.clinicalgenome.org/kb/genes/HGNC:2214","recessive dystrophic epidermolysis bullosa","MONDO:0009179","https://search.clinicalgenome.org/kb/conditions/MONDO:0009179","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/08/2023)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2214","Dosage Working Group","definitive evidence (06/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_940fac3e-2586-4d49-a6f3-db12e865cc65-2022-06-20T170000.000Z","Hereditary Cancer","","",""
"COL9A1","HGNC:2217","https://search.clinicalgenome.org/kb/genes/HGNC:2217","Stickler syndrome","MONDO:0019354","https://search.clinicalgenome.org/kb/conditions/MONDO:0019354","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (11/06/2013)","0 - No Evidence for Triplosensitivity (11/06/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2217","Dosage Working Group","limited evidence (03/26/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9807","Heritable Thoracic Aortic Aneurysm and Dissection","","",""
"COL9A1","HGNC:2217","https://search.clinicalgenome.org/kb/genes/HGNC:2217","Stickler syndrome, type 4","MONDO:0013590","https://search.clinicalgenome.org/kb/conditions/MONDO:0013590","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (11/06/2013)","0 - No Evidence for Triplosensitivity (11/06/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2217","Dosage Working Group","definitive evidence (10/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bf2ef93-7886-464c-b177-4ed189c935ff-2025-10-08T160000.000Z","Hearing Loss","","",""
"COL9A1","HGNC:2217","https://search.clinicalgenome.org/kb/genes/HGNC:2217","epiphyseal dysplasia, multiple, 6","MONDO:0013591","https://search.clinicalgenome.org/kb/conditions/MONDO:0013591","N/A","0 - No Evidence for Haploinsufficiency (11/06/2013)","0 - No Evidence for Triplosensitivity (11/06/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2217","Dosage Working Group","","","","","",""
"COL9A2","HGNC:2218","https://search.clinicalgenome.org/kb/genes/HGNC:2218","Stickler syndrome","MONDO:0019354","https://search.clinicalgenome.org/kb/conditions/MONDO:0019354","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (10/09/2013)","0 - No Evidence for Triplosensitivity (10/09/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2218","Dosage Working Group","limited evidence (02/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_697ae26e-2b07-4f87-b42c-121684c89bc0-2019-02-19T170000.000Z","Hearing Loss","","",""
"COL9A3","HGNC:2219","https://search.clinicalgenome.org/kb/genes/HGNC:2219","Stickler syndrome","MONDO:0019354","https://search.clinicalgenome.org/kb/conditions/MONDO:0019354","Autosomal recessive inheritance","","","","","definitive evidence (12/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a436c41e-0873-4e4c-b2f2-d56f75ca737a-2022-12-21T050000.000Z","Hearing Loss","","",""
"COLEC11","HGNC:17213","https://search.clinicalgenome.org/kb/genes/HGNC:17213","3MC syndrome 2","MONDO:0009927","https://search.clinicalgenome.org/kb/conditions/MONDO:0009927","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17213","Dosage Working Group","","","","","",""
"COLGALT1","HGNC:26182","https://search.clinicalgenome.org/kb/genes/HGNC:26182","brain small vessel disease 3","MONDO:0100105","https://search.clinicalgenome.org/kb/conditions/MONDO:0100105","Autosomal recessive inheritance","","","","","moderate evidence (03/31/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cc18e7d-fac7-435b-9207-9a3e6891e7ca-2025-03-31T160000.000Z","Congenital Disorders of Glycosylation","","",""
"COLQ","HGNC:2226","https://search.clinicalgenome.org/kb/genes/HGNC:2226","congenital myasthenic syndrome 5","MONDO:0011281","https://search.clinicalgenome.org/kb/conditions/MONDO:0011281","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2226","Dosage Working Group","","","","","",""
"COMP","HGNC:2227","https://search.clinicalgenome.org/kb/genes/HGNC:2227","COMP-related skeletal dysplasia","MONDO:0100593","https://search.clinicalgenome.org/kb/conditions/MONDO:0100593","Autosomal dominant inheritance","","","","","definitive evidence (02/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9905abef-52f7-4beb-9232-7651967d9f27-2025-02-28T170000.000Z","Skeletal Disorders","","",""
"COPG1","HGNC:2236","https://search.clinicalgenome.org/kb/genes/HGNC:2236","non-severe combined immunodeficiency due to COPG1 deficiency","MONDO:0800136","https://search.clinicalgenome.org/kb/conditions/MONDO:0800136","Autosomal recessive inheritance","","","","","limited evidence (01/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d3aaced-2415-425a-b2c7-b59c7a687a2c-2024-01-18T180000.000Z","SCID-CID","","",""
"COQ2","HGNC:25223","https://search.clinicalgenome.org/kb/genes/HGNC:25223","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25223","Dosage Working Group","definitive evidence (01/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b91e278-c030-40b2-b135-c558fcc49531-2023-01-30T170000.000Z","Mitochondrial Diseases","","",""
"COQ2","HGNC:25223","https://search.clinicalgenome.org/kb/genes/HGNC:25223","coenzyme Q10 deficiency, primary, 1","MONDO:0011829","https://search.clinicalgenome.org/kb/conditions/MONDO:0011829","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25223","Dosage Working Group","","","","","",""
"COQ4","HGNC:19693","https://search.clinicalgenome.org/kb/genes/HGNC:19693","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (01/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d59cb98-0dd9-4707-8464-876eee053467-2023-01-30T170000.000Z","Mitochondrial Diseases","","",""
"COQ5","HGNC:28722","https://search.clinicalgenome.org/kb/genes/HGNC:28722","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (07/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b9c2846-d034-46f4-87ba-525bed7efe9c-2024-07-10T160000.000Z","Cerebellar Ataxia","","",""
"COQ6","HGNC:20233","https://search.clinicalgenome.org/kb/genes/HGNC:20233","primary coenzyme Q10 deficiency 8","MONDO:0014754","https://search.clinicalgenome.org/kb/conditions/MONDO:0014754","Autosomal recessive inheritance","","","","","definitive evidence (04/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d5d261a-0978-4940-880e-a7a6eb4fa4bf-2025-04-14T180000.000Z","Glomerulopathy","","",""
"COQ8B","HGNC:19041","https://search.clinicalgenome.org/kb/genes/HGNC:19041","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (02/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_43b1c614-38c9-4729-8661-eecc0d24a364-2023-02-06T050000.000Z","Mitochondrial Diseases","","",""
"COQ9","HGNC:25302","https://search.clinicalgenome.org/kb/genes/HGNC:25302","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (04/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cebc5501-5d36-4767-98bc-edc4ddab3527-2021-04-09T140634.407Z","Mitochondrial Diseases","","",""
"COQ9","HGNC:25302","https://search.clinicalgenome.org/kb/genes/HGNC:25302","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (01/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5bd50af5-d882-49e1-afd5-d68f253055d7-2024-01-29T170000.000Z","Mitochondrial Diseases","","",""
"CORO1A","HGNC:2252","https://search.clinicalgenome.org/kb/genes/HGNC:2252","severe combined immunodeficiency due to CORO1A deficiency","MONDO:0014168","https://search.clinicalgenome.org/kb/conditions/MONDO:0014168","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2252","Dosage Working Group","definitive evidence (06/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f55fde93-1b6e-4d03-b737-ecad8aa89ecf-2022-06-03T160000.000Z","SCID-CID","","",""
"COX10","HGNC:2260","https://search.clinicalgenome.org/kb/genes/HGNC:2260","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2260","Dosage Working Group","moderate evidence (05/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48794019-db9d-47c2-9977-4dc76a7d07b3-2019-05-20T182801.393Z","Mitochondrial Diseases","","",""
"COX10","HGNC:2260","https://search.clinicalgenome.org/kb/genes/HGNC:2260","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2260","Dosage Working Group","definitive evidence (12/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1cb195fd-1191-45ba-83ef-cc2b18a081a7-2023-12-04T050000.000Z","Mitochondrial Diseases","","",""
"COX14","HGNC:28216","https://search.clinicalgenome.org/kb/genes/HGNC:28216","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28216","Dosage Working Group","limited evidence (03/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8899dbb6-9769-4d93-83fb-e95b6775962c-2022-03-21T040000.000Z","Mitochondrial Diseases","","",""
"COX14","HGNC:28216","https://search.clinicalgenome.org/kb/genes/HGNC:28216","obsolete cytochrome-c oxidase deficiency disease","MONDO:0009068","https://search.clinicalgenome.org/kb/conditions/MONDO:0009068","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28216","Dosage Working Group","","","","","",""
"COX15","HGNC:2263","https://search.clinicalgenome.org/kb/genes/HGNC:2263","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2263","Dosage Working Group","limited evidence (05/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5c8d1e1-24d0-4b88-8c04-023197db14f3-2019-05-20T183321.284Z","Mitochondrial Diseases","","",""
"COX15","HGNC:2263","https://search.clinicalgenome.org/kb/genes/HGNC:2263","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2263","Dosage Working Group","definitive evidence (12/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f825de2-a93c-4f96-b1e5-7b2843c668ee-2023-12-04T050000.000Z","Mitochondrial Diseases","","",""
"COX15","HGNC:2263","https://search.clinicalgenome.org/kb/genes/HGNC:2263","cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2","MONDO:0014051","https://search.clinicalgenome.org/kb/conditions/MONDO:0014051","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2263","Dosage Working Group","","","","","",""
"COX20","HGNC:26970","https://search.clinicalgenome.org/kb/genes/HGNC:26970","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26970","Dosage Working Group","definitive evidence (02/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2391b81d-cfd2-4862-b71b-0418794539c3-2022-02-17T170000.000Z","Mitochondrial Diseases","","",""
"COX4I1","HGNC:2265","https://search.clinicalgenome.org/kb/genes/HGNC:2265","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (04/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d56c1fe4-7711-45f4-992c-7e9586b9efc6-2021-04-09T135824.042Z","Mitochondrial Diseases","","",""
"COX4I1","HGNC:2265","https://search.clinicalgenome.org/kb/genes/HGNC:2265","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","limited evidence (03/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18fa1fc5-ce1b-4fec-9cc0-c94dd5c040c7-2024-03-18T040000.000Z","Mitochondrial Diseases","","",""
"COX4I2","HGNC:16232","https://search.clinicalgenome.org/kb/genes/HGNC:16232","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","limited evidence (03/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a77de2a3-bc6f-47fc-a56c-edee31e11dcb-2024-03-18T040000.000Z","Mitochondrial Diseases","","",""
"COX6A1","HGNC:2277","https://search.clinicalgenome.org/kb/genes/HGNC:2277","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","strong evidence (03/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a94f65e-5295-4757-bb1e-72f2004725fa-2024-03-18T040000.000Z","Mitochondrial Diseases","","",""
"COX6A2","HGNC:2279","https://search.clinicalgenome.org/kb/genes/HGNC:2279","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (03/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c09fbc40-dc5e-4cbd-80d1-1f918fffdceb-2024-03-18T040000.000Z","Mitochondrial Diseases","","",""
"COX6B1","HGNC:2280","https://search.clinicalgenome.org/kb/genes/HGNC:2280","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2280","Dosage Working Group","definitive evidence (03/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc374fc3-050b-4985-9f2f-a2972bb795fe-2022-03-21T040000.000Z","Mitochondrial Diseases","","",""
"COX8A","HGNC:2294","https://search.clinicalgenome.org/kb/genes/HGNC:2294","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (04/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70763eb9-40f7-4f71-a64b-ab0c6ad536b0-2021-04-09T135510.592Z","Mitochondrial Diseases","","",""
"COX8A","HGNC:2294","https://search.clinicalgenome.org/kb/genes/HGNC:2294","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","limited evidence (03/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1671723-9b23-4f70-b64d-dd1829b926bc-2024-03-18T040000.000Z","Mitochondrial Diseases","","",""
"COXFA4","HGNC:7687","https://search.clinicalgenome.org/kb/genes/HGNC:7687","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (01/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2854d105-0d20-4a19-9dee-d7aa6a60ed99-2021-01-14T214439.481Z","Mitochondrial Diseases","","",""
"CP","HGNC:2295","https://search.clinicalgenome.org/kb/genes/HGNC:2295","aceruloplasminemia","MONDO:0011426","https://search.clinicalgenome.org/kb/conditions/MONDO:0011426","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2295","Dosage Working Group","definitive evidence (10/27/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c54ee607-edd6-42dc-a4ac-f4060ae6b209-2025-10-27T170000.000Z","General Inborn Errors of Metabolism","Moderate Actionability (12/10/2018) | Strong Actionability (09/17/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC157 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC157"," | "
"CPA6","HGNC:17245","https://search.clinicalgenome.org/kb/genes/HGNC:17245","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance | Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (09/04/2019)","0 - No Evidence for Triplosensitivity (09/04/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17245","Dosage Working Group","refuting evidence (07/29/2021) | disputing (07/29/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1cb32379-82a8-425d-ac80-3d740e1cc10b-2021-07-29T132527.108Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7b3ebd58-dccb-4c73-b5e4-1ec55171f2fe-2021-07-29T135909.720Z","Epilepsy | Epilepsy","","",""
"CPAMD8","HGNC:23228","https://search.clinicalgenome.org/kb/genes/HGNC:23228","anterior segment dysgenesis 8","MONDO:0015017","https://search.clinicalgenome.org/kb/conditions/MONDO:0015017","Autosomal recessive inheritance","","","","","definitive evidence (11/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc4d2b2a-08d6-4869-a56e-55721fd4c9dc-2022-11-18T170000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"CPAP","HGNC:17272","https://search.clinicalgenome.org/kb/genes/HGNC:17272","microcephaly 6 with or without short stature","MONDO:0700054","https://search.clinicalgenome.org/kb/conditions/MONDO:0700054","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17272","Dosage Working Group","definitive evidence (05/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c10510c1-2c0e-466e-928a-77d896159d06-2022-05-21T104414.354Z","Syndromic Disorders","","",""
"CPAP","HGNC:17272","https://search.clinicalgenome.org/kb/genes/HGNC:17272","microcephaly 6, primary, autosomal recessive","MONDO:0012029","https://search.clinicalgenome.org/kb/conditions/MONDO:0012029","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17272","Dosage Working Group","","","","","",""
"CPLANE1","HGNC:25801","https://search.clinicalgenome.org/kb/genes/HGNC:25801","Joubert syndrome 17","MONDO:0013824","https://search.clinicalgenome.org/kb/conditions/MONDO:0013824","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25801","Dosage Working Group","definitive evidence (05/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_954cdc22-7834-4876-a64e-27d56615c1ff-2022-05-20T114241.088Z","Syndromic Disorders","","",""
"CPN1","HGNC:2312","https://search.clinicalgenome.org/kb/genes/HGNC:2312","carboxypeptidase N deficiency","MONDO:0008910","https://search.clinicalgenome.org/kb/conditions/MONDO:0008910","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2312","Dosage Working Group","","","","","",""
"CPOX","HGNC:2321","https://search.clinicalgenome.org/kb/genes/HGNC:2321","CPOX-related hereditary coproporphyria","MONDO:0800180","https://search.clinicalgenome.org/kb/conditions/MONDO:0800180","Semidominant inheritance","","","","","definitive evidence (01/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7cfd579-9ded-4e8a-b8be-c1a6e573e28b-2023-01-27T170000.000Z","General Inborn Errors of Metabolism","","",""
"CPS1","HGNC:2323","https://search.clinicalgenome.org/kb/genes/HGNC:2323","carbamoyl phosphate synthetase I deficiency disease","MONDO:0009376","https://search.clinicalgenome.org/kb/conditions/MONDO:0009376","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2323","Dosage Working Group","definitive evidence (10/12/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbc4dbbe-8827-4d68-a396-8368f3801e78-2018-10-12T160000.000Z","Aminoacidopathy","Moderate Actionability (03/16/2022) | Strong Actionability (03/16/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1046 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1046"," | "
"CPT1A","HGNC:2328","https://search.clinicalgenome.org/kb/genes/HGNC:2328","carnitine palmitoyl transferase 1A deficiency","MONDO:0009705","https://search.clinicalgenome.org/kb/conditions/MONDO:0009705","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2328","Dosage Working Group","definitive evidence (01/23/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dcea255c-11e4-46fd-b0f7-2de68311a75c-2018-01-23T170000.000Z","Fatty Acid Oxidation Disorders","","",""
"CPT1B","HGNC:2329","https://search.clinicalgenome.org/kb/genes/HGNC:2329","inherited fatty acid metabolism disorder","MONDO:0037858","https://search.clinicalgenome.org/kb/conditions/MONDO:0037858","Mode of inheritance","","","","","no known disease relationship (01/25/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfcd80c7-d806-41cf-8c3a-7ba955919537-2021-01-25T194946.827Z","Fatty Acid Oxidation Disorders","","",""
"CPT1C","HGNC:18540","https://search.clinicalgenome.org/kb/genes/HGNC:18540","hereditary spastic paraplegia","MONDO:0019064","https://search.clinicalgenome.org/kb/conditions/MONDO:0019064","Autosomal dominant inheritance","","","","","limited evidence (03/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d171b54-3af1-442a-9c54-b959061a7b5a-2023-03-20T180000.000Z","Cerebral Palsy","","",""
"CPT2","HGNC:2330","https://search.clinicalgenome.org/kb/genes/HGNC:2330","carnitine palmitoyltransferase II deficiency","MONDO:0015515","https://search.clinicalgenome.org/kb/conditions/MONDO:0015515","Autosomal recessive inheritance","","","","","definitive evidence (03/27/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a57ea10-6ca0-4311-94f1-0ad036a38ca6-2018-03-27T160000.000Z","Fatty Acid Oxidation Disorders","Moderate Actionability (12/26/2020) | Moderate Actionability (12/26/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1022 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1022"," | "
"CPT2","HGNC:2330","https://search.clinicalgenome.org/kb/genes/HGNC:2330","carnitine palmitoyl transferase II deficiency, myopathic form","MONDO:0009704","https://search.clinicalgenome.org/kb/conditions/MONDO:0009704","N/A","","","","","","","","Moderate Actionability (12/26/2020) | Moderate Actionability (12/26/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1022 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1022"," | "
"CPT2","HGNC:2330","https://search.clinicalgenome.org/kb/genes/HGNC:2330","carnitine palmitoyl transferase II deficiency, severe infantile form","MONDO:0010914","https://search.clinicalgenome.org/kb/conditions/MONDO:0010914","N/A","","","","","","","","Moderate Actionability (12/26/2020) | Moderate Actionability (12/26/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1022 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1022"," | "
"CPT2","HGNC:2330","https://search.clinicalgenome.org/kb/genes/HGNC:2330","carnitine palmitoyl transferase II deficiency, neonatal form","MONDO:0012136","https://search.clinicalgenome.org/kb/conditions/MONDO:0012136","N/A","","","","","","","","Moderate Actionability (12/26/2020) | Moderate Actionability (12/26/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1022 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1022"," | "
"CR2","HGNC:2336","https://search.clinicalgenome.org/kb/genes/HGNC:2336","immunodeficiency, common variable, 7","MONDO:0013862","https://search.clinicalgenome.org/kb/conditions/MONDO:0013862","Autosomal recessive inheritance","","","","","definitive evidence (08/03/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9153b41e-f2ef-453d-883b-187565cf4593-2021-08-03T130056.511Z","Antibody Deficiencies GCEP","","",""
"CRACR2A","HGNC:28657","https://search.clinicalgenome.org/kb/genes/HGNC:28657","combined immunodeficiency","MONDO:0015131","https://search.clinicalgenome.org/kb/conditions/MONDO:0015131","Autosomal recessive inheritance","","","","","limited evidence (09/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_404d2603-e070-4798-81b0-ebf683a76efe-2024-09-19T160000.000Z","SCID-CID","","",""
"CRADD","HGNC:2340","https://search.clinicalgenome.org/kb/genes/HGNC:2340","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2340","Dosage Working Group","definitive evidence (06/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f64ee7f-13a7-4a2d-b1a2-ad6c9e63cab3-2021-06-16T180000.000Z","Intellectual Disability and Autism","","",""
"CRADD","HGNC:2340","https://search.clinicalgenome.org/kb/genes/HGNC:2340","intellectual disability, autosomal recessive 34","MONDO:0013785","https://search.clinicalgenome.org/kb/conditions/MONDO:0013785","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2340","Dosage Working Group","","","","","",""
"CRB2","HGNC:18688","https://search.clinicalgenome.org/kb/genes/HGNC:18688","focal segmental glomerulosclerosis 9","MONDO:0014539","https://search.clinicalgenome.org/kb/conditions/MONDO:0014539","Autosomal recessive inheritance","","","","","definitive evidence (10/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98f54e8c-a81c-4b3b-8dbb-05dd24c5dbcc-2021-10-26T013000.000Z","Glomerulopathy","","",""
"CRBN","HGNC:30185","https://search.clinicalgenome.org/kb/genes/HGNC:30185","intellectual disability","MONDO:0001071","https://search.clinicalgenome.org/kb/conditions/MONDO:0001071","Autosomal recessive inheritance","","","","","moderate evidence (05/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_158c9b6b-2ac8-4ee3-bd89-a57d567e675f-2021-05-21T135046.004Z","Intellectual Disability and Autism","","",""
"CREBBP","HGNC:2348","https://search.clinicalgenome.org/kb/genes/HGNC:2348","Rubinstein-Taybi syndrome","MONDO:0019188","https://search.clinicalgenome.org/kb/conditions/MONDO:0019188","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/23/2019)","0 - No Evidence for Triplosensitivity (10/23/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2348","Dosage Working Group","definitive evidence (04/27/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d16df64b-26ed-4f1c-b8dc-f27be773b102-2018-04-27T100000.000Z","Intellectual Disability and Autism","","",""
"CREBBP","HGNC:2348","https://search.clinicalgenome.org/kb/genes/HGNC:2348","Rubinstein-Taybi syndrome due to CREBBP mutations","MONDO:0008393","https://search.clinicalgenome.org/kb/conditions/MONDO:0008393","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/23/2019)","0 - No Evidence for Triplosensitivity (10/23/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2348","Dosage Working Group","","","","","",""
"CRELD1","HGNC:14630","https://search.clinicalgenome.org/kb/genes/HGNC:14630","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (09/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1aa67af6-c8df-4151-98ab-049b69fefd08-2023-09-05T160000.000Z","Congenital Heart Disease","","",""
"CRH","HGNC:2355","https://search.clinicalgenome.org/kb/genes/HGNC:2355","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","","","","","refuting evidence (09/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1719f97-0d6c-4ed3-93bc-13cc8e1f1d6e-2021-09-21T160000.000Z","Epilepsy","","",""
"CRIPT","HGNC:14312","https://search.clinicalgenome.org/kb/genes/HGNC:14312","Rothmund-Thomson syndrome, type 3","MONDO:0014347","https://search.clinicalgenome.org/kb/conditions/MONDO:0014347","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14312","Dosage Working Group","","","","","",""
"CRIPTO","HGNC:11701","https://search.clinicalgenome.org/kb/genes/HGNC:11701","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (12/27/2011)","0 - No Evidence for Triplosensitivity (12/27/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11701","Dosage Working Group","limited evidence (06/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15231240-2c6d-44c5-9623-05127bb30b6e-2024-06-10T160000.000Z","Congenital Heart Disease","","",""
"CRKL","HGNC:2363","https://search.clinicalgenome.org/kb/genes/HGNC:2363","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Mode of inheritance","1 - Little Evidence for Haploinsufficiency (04/13/2020)","0 - No Evidence for Triplosensitivity (04/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2363","Dosage Working Group","no known disease relationship (10/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_453641ec-805e-4712-841d-a228b48f5cc4-2023-10-17T040000.000Z","Congenital Heart Disease","","",""
"CRPPA","HGNC:37276","https://search.clinicalgenome.org/kb/genes/HGNC:37276","myopathy caused by variation in CRPPA","MONDO:0100530","https://search.clinicalgenome.org/kb/conditions/MONDO:0100530","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:37276","Dosage Working Group","definitive evidence (12/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d774637-2d63-48fc-b670-da4d9e57377c-2023-12-12T170000.000Z","Muscular Dystrophies and Myopathies","","",""
"CRPPA","HGNC:37276","https://search.clinicalgenome.org/kb/genes/HGNC:37276","muscular dystrophy-dystroglycanopathy","MONDO:0018276","https://search.clinicalgenome.org/kb/conditions/MONDO:0018276","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:37276","Dosage Working Group","","","","","",""
"CRTAP","HGNC:2379","https://search.clinicalgenome.org/kb/genes/HGNC:2379","osteogenesis imperfecta type 7","MONDO:0012536","https://search.clinicalgenome.org/kb/conditions/MONDO:0012536","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2379","Dosage Working Group","","","","","",""
"CRX","HGNC:2383","https://search.clinicalgenome.org/kb/genes/HGNC:2383","cone-rod dystrophy 2","MONDO:0007362","https://search.clinicalgenome.org/kb/conditions/MONDO:0007362","Autosomal dominant inheritance","","","","","definitive evidence (12/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26f9f606-f3f3-45f0-b212-998bcea09765-2024-12-06T170000.000Z","Retina","","",""
"CRYM","HGNC:2418","https://search.clinicalgenome.org/kb/genes/HGNC:2418","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","limited evidence (09/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d15cf48a-3696-467a-b3c8-a45ef5a577bf-2021-09-21T160000.000Z","Hearing Loss","","",""
"CSDE1","HGNC:29905","https://search.clinicalgenome.org/kb/genes/HGNC:29905","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (11/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7061e9de-d429-4d92-a8fa-e386016ab9db-2023-11-21T110000.000Z","Intellectual Disability and Autism","","",""
"CSF2RA","HGNC:2435","https://search.clinicalgenome.org/kb/genes/HGNC:2435","surfactant metabolism dysfunction, pulmonary, 4","MONDO:0010424","https://search.clinicalgenome.org/kb/conditions/MONDO:0010424","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/23/2021)","0 - No Evidence for Triplosensitivity (08/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2435","Dosage Working Group","definitive evidence (09/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6037e055-90a1-4727-be41-fa3295982b12-2025-09-16T160000.000Z","Interstitial Lung Disease","","",""
"CSF2RA","HGNC:2435","https://search.clinicalgenome.org/kb/genes/HGNC:2435","hereditary pulmonary alveolar proteinosis","MONDO:0012580","https://search.clinicalgenome.org/kb/conditions/MONDO:0012580","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/23/2021)","0 - No Evidence for Triplosensitivity (08/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2435","Dosage Working Group","","","","","",""
"CSF2RB","HGNC:2436","https://search.clinicalgenome.org/kb/genes/HGNC:2436","surfactant metabolism dysfunction, pulmonary, 5","MONDO:0013712","https://search.clinicalgenome.org/kb/conditions/MONDO:0013712","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2436","Dosage Working Group","definitive evidence (09/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_820769fa-c7cb-4d98-ae3d-fb2cd0ae93b9-2024-09-17T160000.000Z","Interstitial Lung Disease","","",""
"CSGALNACT1","HGNC:24290","https://search.clinicalgenome.org/kb/genes/HGNC:24290","skeletal dysplasia, mild, with joint laxity and advanced bone age","MONDO:0030029","https://search.clinicalgenome.org/kb/conditions/MONDO:0030029","Autosomal recessive inheritance","","","","","moderate evidence (06/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ba7e544-2e7d-4314-b011-74210faae113-2025-06-25T160000.000Z","Congenital Disorders of Glycosylation","","",""
"CSMD1","HGNC:14026","https://search.clinicalgenome.org/kb/genes/HGNC:14026","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (10/08/2024)","0 - No Evidence for Triplosensitivity (10/08/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14026","Dosage Working Group","","","","","",""
"CSNK2A1","HGNC:2457","https://search.clinicalgenome.org/kb/genes/HGNC:2457","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (06/26/2024)","0 - No Evidence for Triplosensitivity (06/26/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2457","Dosage Working Group","definitive evidence (06/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_007e16ed-7392-4050-88b1-2b2158ca2a28-2022-06-15T060000.000Z","Intellectual Disability and Autism","","",""
"CSNK2B","HGNC:2460","https://search.clinicalgenome.org/kb/genes/HGNC:2460","Poirier-Bienvenu neurodevelopmental syndrome","MONDO:0032889","https://search.clinicalgenome.org/kb/conditions/MONDO:0032889","Autosomal dominant inheritance","","","","","definitive evidence (04/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64552de0-3f81-4110-90f7-97de14b0387b-2022-04-08T050921.681Z","Syndromic Disorders","","",""
"CSPP1","HGNC:26193","https://search.clinicalgenome.org/kb/genes/HGNC:26193","Joubert syndrome 21","MONDO:0014288","https://search.clinicalgenome.org/kb/conditions/MONDO:0014288","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26193","Dosage Working Group","definitive evidence (06/23/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e24d1591-91b7-4c2f-bd79-d4dc8be0974d-2021-06-23T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"CSRP1","HGNC:2469","https://search.clinicalgenome.org/kb/genes/HGNC:2469","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (07/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b92d7b82-72c1-4d19-82fc-078f89bfc2cb-2024-07-02T160000.000Z","Congenital Heart Disease","","",""
"CSRP3","HGNC:2472","https://search.clinicalgenome.org/kb/genes/HGNC:2472","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","no known disease relationship (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_beaafc90-20ef-4c81-ad8f-cfcf69d269ca-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"CSRP3","HGNC:2472","https://search.clinicalgenome.org/kb/genes/HGNC:2472","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Semidominant inheritance","","","","","definitive evidence (08/09/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_012b9b15-798a-46e2-8164-61a829ceeda1-2023-08-09T160000.000Z","Hereditary Cardiovascular Disease","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"CSRP3","HGNC:2472","https://search.clinicalgenome.org/kb/genes/HGNC:2472","hypertrophic cardiomyopathy 12","MONDO:0012804","https://search.clinicalgenome.org/kb/conditions/MONDO:0012804","N/A","","","","","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"CSRP3","HGNC:2472","https://search.clinicalgenome.org/kb/genes/HGNC:2472","familial hypertrophic cardiomyopathy","MONDO:0024573","https://search.clinicalgenome.org/kb/conditions/MONDO:0024573","N/A","","","","","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"CSTB","HGNC:2482","https://search.clinicalgenome.org/kb/genes/HGNC:2482","Unverricht-Lundborg syndrome","MONDO:0009698","https://search.clinicalgenome.org/kb/conditions/MONDO:0009698","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2482","Dosage Working Group","definitive evidence (06/16/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2926506c-5b75-4340-b821-e3ac846b6621-2020-06-16T160000.000Z","Epilepsy","","",""
"CSTB","HGNC:2482","https://search.clinicalgenome.org/kb/genes/HGNC:2482","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2482","Dosage Working Group","moderate evidence (12/01/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_accafcd4-ba3c-4049-9285-1de877d256ec-2020-12-01T060000.000Z","Epilepsy","","",""
"CTC1","HGNC:26169","https://search.clinicalgenome.org/kb/genes/HGNC:26169","cerebroretinal microangiopathy with calcifications and cysts 1","MONDO:0024564","https://search.clinicalgenome.org/kb/conditions/MONDO:0024564","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (10/08/2019)","0 - No Evidence for Triplosensitivity (10/08/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26169","Dosage Working Group","","","","","",""
"CTCF","HGNC:13723","https://search.clinicalgenome.org/kb/genes/HGNC:13723","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/22/2021)","0 - No Evidence for Triplosensitivity (09/22/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13723","Dosage Working Group","definitive evidence (07/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1cbcd7b-83e2-47c1-b708-c9052502e639-2021-07-21T160000.000Z","Intellectual Disability and Autism","","",""
"CTDP1","HGNC:2498","https://search.clinicalgenome.org/kb/genes/HGNC:2498","congenital cataracts-facial dysmorphism-neuropathy syndrome","MONDO:0011402","https://search.clinicalgenome.org/kb/conditions/MONDO:0011402","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2498","Dosage Working Group","","","","","",""
"CTF1","HGNC:2499","https://search.clinicalgenome.org/kb/genes/HGNC:2499","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","limited evidence (08/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef19cc13-543b-451e-b278-ec1fc04f694c-2024-08-07T160000.000Z","Dilated Cardiomyopathy","","",""
"CTH","HGNC:2501","https://search.clinicalgenome.org/kb/genes/HGNC:2501","cystathioninuria","MONDO:0009058","https://search.clinicalgenome.org/kb/conditions/MONDO:0009058","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2501","Dosage Working Group","definitive evidence (06/14/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f5047f7-80ba-4b8f-8009-59d7130e63be-2019-06-14T160000.000Z","Aminoacidopathy","","",""
"CTLA4","HGNC:2505","https://search.clinicalgenome.org/kb/genes/HGNC:2505","autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency","MONDO:0014493","https://search.clinicalgenome.org/kb/conditions/MONDO:0014493","Autosomal dominant inheritance","","","","","definitive evidence (12/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e79675bd-3eef-4925-b4ef-3b7c48734f30-2020-12-15T050000.000Z","Antibody Deficiencies GCEP","","",""
"CTNNA1","HGNC:2509","https://search.clinicalgenome.org/kb/genes/HGNC:2509","hereditary nonpolyposis colon cancer","MONDO:0018630","https://search.clinicalgenome.org/kb/conditions/MONDO:0018630","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/12/2022)","0 - No Evidence for Triplosensitivity (10/12/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2509","Dosage Working Group","no known disease relationship (04/24/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9868","Colon Cancer","","",""
"CTNNA1","HGNC:2509","https://search.clinicalgenome.org/kb/genes/HGNC:2509","CTNNA1-related diffuse gastric and lobular breast cancer syndrome","MONDO:0100256","https://search.clinicalgenome.org/kb/conditions/MONDO:0100256","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/12/2022)","0 - No Evidence for Triplosensitivity (10/12/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2509","Dosage Working Group","definitive evidence (07/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9de9839-f329-4814-94af-bcce2f5d1be4-2023-07-05T170000.000Z","Hereditary Cancer","","",""
"CTNNA1","HGNC:2509","https://search.clinicalgenome.org/kb/genes/HGNC:2509","hereditary gastric cancer","MONDO:0018502","https://search.clinicalgenome.org/kb/conditions/MONDO:0018502","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/12/2022)","0 - No Evidence for Triplosensitivity (10/12/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2509","Dosage Working Group","","","","","",""
"CTNNA3","HGNC:2511","https://search.clinicalgenome.org/kb/genes/HGNC:2511","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/24/2018)","0 - No Evidence for Triplosensitivity (10/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2511","Dosage Working Group","limited evidence (08/06/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f1dd946-f2bb-496f-8fea-3dea303e2e76-2019-08-06T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"CTNNA3","HGNC:2511","https://search.clinicalgenome.org/kb/genes/HGNC:2511","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Mode of inheritance","0 - No Evidence for Haploinsufficiency (10/24/2018)","0 - No Evidence for Triplosensitivity (10/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2511","Dosage Working Group","disputing (10/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d30ce558-9009-45d3-9eb3-9b5c7594d1b8-2023-10-17T160000.000Z","Congenital Heart Disease","","",""
"CTNNA3","HGNC:2511","https://search.clinicalgenome.org/kb/genes/HGNC:2511","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","0 - No Evidence for Haploinsufficiency (10/24/2018)","0 - No Evidence for Triplosensitivity (10/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2511","Dosage Working Group","","","","","",""
"CTNNB1","HGNC:2514","https://search.clinicalgenome.org/kb/genes/HGNC:2514","severe intellectual disability-progressive spastic diplegia syndrome","MONDO:0014035","https://search.clinicalgenome.org/kb/conditions/MONDO:0014035","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/22/2017)","0 - No Evidence for Triplosensitivity (11/22/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2514","Dosage Working Group","","","","","",""
"CTNNBL1","HGNC:15879","https://search.clinicalgenome.org/kb/genes/HGNC:15879","common variable immunodeficiency","MONDO:0015517","https://search.clinicalgenome.org/kb/conditions/MONDO:0015517","Autosomal recessive inheritance","","","","","limited evidence (05/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e151724-c8a5-4f3e-a7ac-bd0b1d180fae-2022-05-17T160000.000Z","Antibody Deficiencies GCEP","","",""
"CTNND1","HGNC:2515","https://search.clinicalgenome.org/kb/genes/HGNC:2515","blepharocheilodontic syndrome 2","MONDO:0040503","https://search.clinicalgenome.org/kb/conditions/MONDO:0040503","Autosomal dominant inheritance","","","","","definitive evidence (03/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5000144a-71c1-4ae7-95a9-17ad67a388c5-2024-03-21T160000.000Z","Craniofacial Malformations","","",""
"CTNND2","HGNC:2516","https://search.clinicalgenome.org/kb/genes/HGNC:2516","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (10/12/2021)","0 - No Evidence for Triplosensitivity (10/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2516","Dosage Working Group","","","","","",""
"CTNS","HGNC:2518","https://search.clinicalgenome.org/kb/genes/HGNC:2518","cystinosis","MONDO:0016239","https://search.clinicalgenome.org/kb/conditions/MONDO:0016239","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2012)","0 - No Evidence for Triplosensitivity (08/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2518","Dosage Working Group","definitive evidence (03/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51c40c8e-b9e5-4f2e-a587-f75b029397af-2022-03-02T170000.000Z","Tubulopathy","Moderate Actionability (11/27/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC007",""
"CTNS","HGNC:2518","https://search.clinicalgenome.org/kb/genes/HGNC:2518","juvenile nephropathic cystinosis","MONDO:0009066","https://search.clinicalgenome.org/kb/conditions/MONDO:0009066","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2012)","0 - No Evidence for Triplosensitivity (08/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2518","Dosage Working Group","","","","Moderate Actionability (11/27/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC007",""
"CTNS","HGNC:2518","https://search.clinicalgenome.org/kb/genes/HGNC:2518","ocular cystinosis","MONDO:0009064","https://search.clinicalgenome.org/kb/conditions/MONDO:0009064","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2012)","0 - No Evidence for Triplosensitivity (08/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2518","Dosage Working Group","","","","Moderate Actionability (11/27/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC007",""
"CTNS","HGNC:2518","https://search.clinicalgenome.org/kb/genes/HGNC:2518","nephropathic infantile cystinosis","MONDO:0018467","https://search.clinicalgenome.org/kb/conditions/MONDO:0018467","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2012)","0 - No Evidence for Triplosensitivity (08/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2518","Dosage Working Group","","","","Moderate Actionability (11/27/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC007",""
"CTNS","HGNC:2518","https://search.clinicalgenome.org/kb/genes/HGNC:2518","nephropathic cystinosis","MONDO:0100151","https://search.clinicalgenome.org/kb/conditions/MONDO:0100151","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2012)","0 - No Evidence for Triplosensitivity (08/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2518","Dosage Working Group","","","","","",""
"CTPS1","HGNC:2519","https://search.clinicalgenome.org/kb/genes/HGNC:2519","severe combined immunodeficiency due to CTPS1 deficiency","MONDO:0014391","https://search.clinicalgenome.org/kb/conditions/MONDO:0014391","Autosomal recessive inheritance","","","","","definitive evidence (09/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bbdaddb-5045-4ebc-b74d-f80e7e8529fc-2024-09-17T160000.000Z","Primary Immune Regulatory Disorders","","",""
"CTR9","HGNC:16850","https://search.clinicalgenome.org/kb/genes/HGNC:16850","CTR9-related neurodevelopmental disorder","MONDO:1040006","https://search.clinicalgenome.org/kb/conditions/MONDO:1040006","Autosomal dominant inheritance","","","","","moderate evidence (03/19/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d392f595-9554-4bf9-8dfa-2baa71280565-2025-03-19T160000.000Z","Intellectual Disability and Autism","","",""
"CTSA","HGNC:9251","https://search.clinicalgenome.org/kb/genes/HGNC:9251","galactosialidosis","MONDO:0009737","https://search.clinicalgenome.org/kb/conditions/MONDO:0009737","Autosomal recessive inheritance","","","","","definitive evidence (09/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b46b7e30-216e-4f8a-a4b9-67d59b9ca655-2022-09-02T160000.000Z","Lysosomal Diseases GCEP","","",""
"CTSD","HGNC:2529","https://search.clinicalgenome.org/kb/genes/HGNC:2529","neuronal ceroid lipofuscinosis","MONDO:0016295","https://search.clinicalgenome.org/kb/conditions/MONDO:0016295","Autosomal recessive inheritance","","","","","definitive evidence (11/03/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d74b1b2a-52a3-4192-b5b4-e4fd46ffc0ba-2020-11-03T180000.000Z","Epilepsy","","",""
"CTSF","HGNC:2531","https://search.clinicalgenome.org/kb/genes/HGNC:2531","adult neuronal ceroid lipofuscinosis","MONDO:0019260","https://search.clinicalgenome.org/kb/conditions/MONDO:0019260","Autosomal recessive inheritance","","","","","definitive evidence (04/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9079835-78f4-4759-a43a-9786270dc02e-2022-04-21T142141.505Z","Epilepsy","","",""
"CTSK","HGNC:2536","https://search.clinicalgenome.org/kb/genes/HGNC:2536","pycnodysostosis","MONDO:0009940","https://search.clinicalgenome.org/kb/conditions/MONDO:0009940","Autosomal recessive inheritance","","","","","definitive evidence (11/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8135617e-f334-4c22-aa9e-b1efd50e9326-2022-11-11T180000.000Z","Lysosomal Diseases GCEP","","",""
"CUBN","HGNC:2548","https://search.clinicalgenome.org/kb/genes/HGNC:2548","Imerslund-Grasbeck syndrome type 1","MONDO:0100156","https://search.clinicalgenome.org/kb/conditions/MONDO:0100156","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2548","Dosage Working Group","","","","","",""
"CUL3","HGNC:2553","https://search.clinicalgenome.org/kb/genes/HGNC:2553","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/24/2018)","0 - No Evidence for Triplosensitivity (01/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2553","Dosage Working Group","definitive evidence (01/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb529ace-86b5-4209-9974-9c07a1c32956-2021-01-16T030942.670Z","Intellectual Disability and Autism","","",""
"CUL3","HGNC:2553","https://search.clinicalgenome.org/kb/genes/HGNC:2553","pseudohypoaldosteronism type 2E","MONDO:0013782","https://search.clinicalgenome.org/kb/conditions/MONDO:0013782","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/24/2018)","0 - No Evidence for Triplosensitivity (01/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2553","Dosage Working Group","definitive evidence (12/01/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f697fb5e-72de-4116-9cad-706e2d651268-2021-12-01T013000.000Z","Tubulopathy","","",""
"CUL3","HGNC:2553","https://search.clinicalgenome.org/kb/genes/HGNC:2553","neurodevelopmental disorder with or without autism or seizures","MONDO:0030994","https://search.clinicalgenome.org/kb/conditions/MONDO:0030994","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/24/2018)","0 - No Evidence for Triplosensitivity (01/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2553","Dosage Working Group","","","","","",""
"CUL4B","HGNC:2555","https://search.clinicalgenome.org/kb/genes/HGNC:2555","X-linked intellectual disability, Cabezas type","MONDO:0010306","https://search.clinicalgenome.org/kb/conditions/MONDO:0010306","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/09/2021)","0 - No Evidence for Triplosensitivity (02/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2555","Dosage Working Group","definitive evidence (02/21/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc93f3b2-3124-40f8-a86e-c929b09c6f68-2018-02-21T110000.000Z","Intellectual Disability and Autism","","",""
"CUX2","HGNC:19347","https://search.clinicalgenome.org/kb/genes/HGNC:19347","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","","","","","moderate evidence (05/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cf65346-db93-42cd-8911-0386bd314a79-2023-05-16T190000.000Z","Epilepsy","","",""
"CWF19L1","HGNC:25613","https://search.clinicalgenome.org/kb/genes/HGNC:25613","autosomal recessive cerebellar ataxia","MONDO:0015244","https://search.clinicalgenome.org/kb/conditions/MONDO:0015244","Autosomal recessive inheritance","","","","","definitive evidence (05/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ebc1a4b-1a41-40df-832f-904cd4bb88f9-2025-05-14T160000.000Z","Cerebellar Ataxia","","",""
"CXCR4","HGNC:2561","https://search.clinicalgenome.org/kb/genes/HGNC:2561","WHIM syndrome","MONDO:0023880","https://search.clinicalgenome.org/kb/conditions/MONDO:0023880","Autosomal dominant inheritance","","","","","definitive evidence (01/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89723de3-8fd8-4e2c-8609-bcd924e2f349-2023-01-17T170000.000Z","Antibody Deficiencies GCEP","","",""
"CYB5A","HGNC:2570","https://search.clinicalgenome.org/kb/genes/HGNC:2570","methemoglobinemia type 4","MONDO:0009605","https://search.clinicalgenome.org/kb/conditions/MONDO:0009605","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2570","Dosage Working Group","definitive evidence (12/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_895f7f88-9dcc-42fd-8773-e20dadb6756c-2024-12-13T190000.000Z","General Inborn Errors of Metabolism","","",""
"CYB5R3","HGNC:2873","https://search.clinicalgenome.org/kb/genes/HGNC:2873","methemoglobinemia due to deficiency of methemoglobin reductase","MONDO:0009606","https://search.clinicalgenome.org/kb/conditions/MONDO:0009606","Autosomal recessive inheritance","","","","","definitive evidence (12/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa135949-7d13-41e7-bbee-5cefb3b77774-2024-12-13T190000.000Z","General Inborn Errors of Metabolism","","",""
"CYBB","HGNC:2578","https://search.clinicalgenome.org/kb/genes/HGNC:2578","granulomatous disease, chronic, X-linked","MONDO:0010600","https://search.clinicalgenome.org/kb/conditions/MONDO:0010600","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/27/2020)","0 - No Evidence for Triplosensitivity (05/27/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2578","Dosage Working Group","","","","","",""
"CYC1","HGNC:2579","https://search.clinicalgenome.org/kb/genes/HGNC:2579","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (03/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d620451-2b96-409b-a109-ceb035e1e68e-2022-03-21T160000.000Z","Mitochondrial Diseases","","",""
"CYCS","HGNC:19986","https://search.clinicalgenome.org/kb/genes/HGNC:19986","thrombocytopenia 4","MONDO:0012775","https://search.clinicalgenome.org/kb/conditions/MONDO:0012775","Autosomal dominant inheritance","","","","","limited evidence (02/05/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_772f2ad2-5d8c-41f6-95c4-39063daf77be-2025-02-05T170000.000Z","Hemostasis Thrombosis","","",""
"CYFIP2","HGNC:13760","https://search.clinicalgenome.org/kb/genes/HGNC:13760","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (05/06/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af61bf34-00d4-4867-9a0b-415e4f6bcfa8-2025-05-06T160000.000Z","Epilepsy","","",""
"CYLD","HGNC:2584","https://search.clinicalgenome.org/kb/genes/HGNC:2584","Brooke-Spiegler syndrome","MONDO:0011512","https://search.clinicalgenome.org/kb/conditions/MONDO:0011512","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/10/2021)","0 - No Evidence for Triplosensitivity (02/10/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2584","Dosage Working Group","definitive evidence (04/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_434ddb72-ee88-47af-9fa2-8dee9fa0a388-2019-04-19T160000.000Z","Hereditary Cancer","","",""
"CYLD","HGNC:2584","https://search.clinicalgenome.org/kb/genes/HGNC:2584","frontotemporal dementia and/or amyotrophic lateral sclerosis 8","MONDO:0030872","https://search.clinicalgenome.org/kb/conditions/MONDO:0030872","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/10/2021)","0 - No Evidence for Triplosensitivity (02/10/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2584","Dosage Working Group","limited evidence (02/23/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e9998d4-d6e3-4bdc-8de6-038928edbb60-2023-02-23T170000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"CYP11B2","HGNC:2592","https://search.clinicalgenome.org/kb/genes/HGNC:2592","familial hyperreninemic hypoaldosteronism type 2","MONDO:0011754","https://search.clinicalgenome.org/kb/conditions/MONDO:0011754","Autosomal recessive inheritance","","","","","definitive evidence (11/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a81c6c87-34bc-4ec4-8c31-91d2c9be4095-2023-11-16T013000.000Z","Tubulopathy","","",""
"CYP1B1","HGNC:2597","https://search.clinicalgenome.org/kb/genes/HGNC:2597","CYP1B1-related glaucoma with or without anterior segment dysgenesis","MONDO:0800472","https://search.clinicalgenome.org/kb/conditions/MONDO:0800472","Autosomal recessive inheritance","","","","","definitive evidence (01/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_107502fc-115b-4ee0-ba83-7081a17d1ebc-2023-01-19T170000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"CYP21A2","HGNC:2600","https://search.clinicalgenome.org/kb/genes/HGNC:2600","non-classic congenital adrenal hyperplasia","MONDO:0023601","https://search.clinicalgenome.org/kb/conditions/MONDO:0023601","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2600","Dosage Working Group","","","","Limited Actionability (05/09/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC151",""
"CYP21A2","HGNC:2600","https://search.clinicalgenome.org/kb/genes/HGNC:2600","classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency","MONDO:0008728","https://search.clinicalgenome.org/kb/conditions/MONDO:0008728","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2600","Dosage Working Group","","","","","",""
"CYP24A1","HGNC:2602","https://search.clinicalgenome.org/kb/genes/HGNC:2602","hypercalcemia, infantile, 1","MONDO:0020739","https://search.clinicalgenome.org/kb/conditions/MONDO:0020739","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2602","Dosage Working Group","","","","","",""
"CYP27A1","HGNC:2605","https://search.clinicalgenome.org/kb/genes/HGNC:2605","cerebrotendinous xanthomatosis","MONDO:0008948","https://search.clinicalgenome.org/kb/conditions/MONDO:0008948","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2605","Dosage Working Group","definitive evidence (09/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_84f4b8c1-a978-49ab-a21c-578e5d4fcdec-2024-09-23T160000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"CYP2U1","HGNC:20582","https://search.clinicalgenome.org/kb/genes/HGNC:20582","hereditary spastic paraplegia","MONDO:0019064","https://search.clinicalgenome.org/kb/conditions/MONDO:0019064","Autosomal recessive inheritance","","","","","definitive evidence (01/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2d550d2-5653-45dc-a8a3-2dccf4bb49f6-2023-01-16T020000.000Z","Cerebral Palsy","","",""
"CYP4F22","HGNC:26820","https://search.clinicalgenome.org/kb/genes/HGNC:26820","autosomal recessive congenital ichthyosis 5","MONDO:0011485","https://search.clinicalgenome.org/kb/conditions/MONDO:0011485","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26820","Dosage Working Group","","","","","",""
"CYP4V2","HGNC:23198","https://search.clinicalgenome.org/kb/genes/HGNC:23198","Bietti crystalline corneoretinal dystrophy","MONDO:0008865","https://search.clinicalgenome.org/kb/conditions/MONDO:0008865","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23198","Dosage Working Group","definitive evidence (04/01/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da577a4b-5c65-43fa-9a03-b275eaacb6eb-2021-04-01T160000.000Z","Retina","","",""
"CYP7B1","HGNC:2652","https://search.clinicalgenome.org/kb/genes/HGNC:2652","CYP7B1-related disorder of oxysterol accumulation","MONDO:1060107","https://search.clinicalgenome.org/kb/conditions/MONDO:1060107","Autosomal recessive inheritance","","","","","definitive evidence (02/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e000ae1c-93a3-4f6b-bdf0-afd04603d407-2025-02-28T170000.000Z","General Inborn Errors of Metabolism","","",""
"CYS1","HGNC:18525","https://search.clinicalgenome.org/kb/genes/HGNC:18525","polycystic kidney disease","MONDO:0020642","https://search.clinicalgenome.org/kb/conditions/MONDO:0020642","Autosomal recessive inheritance","","","","","limited evidence (03/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b3fd5b2-e89e-409a-9802-35cf6ac26913-2024-03-11T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"D2HGDH","HGNC:28358","https://search.clinicalgenome.org/kb/genes/HGNC:28358","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28358","Dosage Working Group","definitive evidence (10/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90674a82-f43e-4435-88c8-121a57b8ab19-2023-10-02T040000.000Z","Mitochondrial Diseases","","",""
"D2HGDH","HGNC:28358","https://search.clinicalgenome.org/kb/genes/HGNC:28358","D-2-hydroxyglutaric aciduria 1","MONDO:0024554","https://search.clinicalgenome.org/kb/conditions/MONDO:0024554","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28358","Dosage Working Group","","","","","",""
"DAAM2","HGNC:18143","https://search.clinicalgenome.org/kb/genes/HGNC:18143","idiopathic multidrug-resistant nephrotic syndrome","MONDO:0035459","https://search.clinicalgenome.org/kb/conditions/MONDO:0035459","Autosomal recessive inheritance","","","","","limited evidence (07/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0190c635-fa58-432c-9342-68805f6cbca2-2024-07-23T160000.000Z","Glomerulopathy","","",""
"DAG1","HGNC:2666","https://search.clinicalgenome.org/kb/genes/HGNC:2666","neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan","MONDO:0018282","https://search.clinicalgenome.org/kb/conditions/MONDO:0018282","Autosomal recessive inheritance","","","","","definitive evidence (08/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61b73fd7-5578-447b-9482-ea64d62dae1d-2024-08-13T190000.000Z","Muscular Dystrophies and Myopathies","","",""
"DAND5","HGNC:26780","https://search.clinicalgenome.org/kb/genes/HGNC:26780","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Mode of inheritance","","","","","disputing (06/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af4ba5de-8e77-4d22-bd42-691451f37472-2024-06-10T160000.000Z","Congenital Heart Disease","","",""
"DAO","HGNC:2671","https://search.clinicalgenome.org/kb/genes/HGNC:2671","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","","","","","refuting evidence (04/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35ac00ac-3279-4c7e-89b6-8a75e3cae414-2022-04-12T103808.867Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"DARS2","HGNC:25538","https://search.clinicalgenome.org/kb/genes/HGNC:25538","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25538","Dosage Working Group","definitive evidence (05/04/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3fc3cd8-48aa-4e02-8324-b3412fcfa64f-2022-05-04T160000.000Z","Mitochondrial Diseases","","",""
"DARS2","HGNC:25538","https://search.clinicalgenome.org/kb/genes/HGNC:25538","leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome","MONDO:0012622","https://search.clinicalgenome.org/kb/conditions/MONDO:0012622","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25538","Dosage Working Group","","","","","",""
"DAW1","HGNC:26383","https://search.clinicalgenome.org/kb/genes/HGNC:26383","ciliary dyskinesia, primary, 52","MONDO:0957922","https://search.clinicalgenome.org/kb/conditions/MONDO:0957922","Autosomal recessive inheritance","","","","","limited evidence (06/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8610990f-63cf-466a-8cd7-fbf7ae58d0f2-2024-06-13T160000.000Z","Motile Ciliopathy GCEP","","",""
"DAW1","HGNC:26383","https://search.clinicalgenome.org/kb/genes/HGNC:26383","visceral heterotaxy","MONDO:0018677","https://search.clinicalgenome.org/kb/conditions/MONDO:0018677","Autosomal recessive inheritance","","","","","moderate evidence (07/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_999c6072-d9c6-4339-aea7-8247941748a6-2024-07-11T160000.000Z","Motile Ciliopathy GCEP","","",""
"DBH","HGNC:2689","https://search.clinicalgenome.org/kb/genes/HGNC:2689","orthostatic hypotension 1","MONDO:0009123","https://search.clinicalgenome.org/kb/conditions/MONDO:0009123","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2689","Dosage Working Group","","","","","",""
"DBT","HGNC:2698","https://search.clinicalgenome.org/kb/genes/HGNC:2698","maple syrup urine disease","MONDO:0009563","https://search.clinicalgenome.org/kb/conditions/MONDO:0009563","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2698","Dosage Working Group","definitive evidence (10/30/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfd1ebde-e447-4877-977e-f5b9fe434adc-2018-10-30T160000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"DBT","HGNC:2698","https://search.clinicalgenome.org/kb/genes/HGNC:2698","maple syrup urine disease type 2","MONDO:0023693","https://search.clinicalgenome.org/kb/conditions/MONDO:0023693","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2698","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"DBT","HGNC:2698","https://search.clinicalgenome.org/kb/genes/HGNC:2698","intermittent maple syrup urine disease","MONDO:0017053","https://search.clinicalgenome.org/kb/conditions/MONDO:0017053","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2698","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"DBT","HGNC:2698","https://search.clinicalgenome.org/kb/genes/HGNC:2698","thiamine-responsive maple syrup urine disease","MONDO:0017054","https://search.clinicalgenome.org/kb/conditions/MONDO:0017054","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2698","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"DBT","HGNC:2698","https://search.clinicalgenome.org/kb/genes/HGNC:2698","maple syrup urine disease, mild variant","MONDO:0014057","https://search.clinicalgenome.org/kb/conditions/MONDO:0014057","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2698","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"DBT","HGNC:2698","https://search.clinicalgenome.org/kb/genes/HGNC:2698","classic maple syrup urine disease","MONDO:0017051","https://search.clinicalgenome.org/kb/conditions/MONDO:0017051","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2698","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"DBT","HGNC:2698","https://search.clinicalgenome.org/kb/genes/HGNC:2698","intermediate maple syrup urine disease","MONDO:0017052","https://search.clinicalgenome.org/kb/conditions/MONDO:0017052","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2698","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/28/2021) | Strong Actionability (06/28/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1041"," | "
"DCAF17","HGNC:25784","https://search.clinicalgenome.org/kb/genes/HGNC:25784","Woodhouse-Sakati syndrome","MONDO:0009419","https://search.clinicalgenome.org/kb/conditions/MONDO:0009419","Autosomal recessive inheritance","","","","","definitive evidence (07/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a1d7719-4261-494d-87aa-745518580673-2021-07-27T153526.827Z","Syndromic Disorders","","",""
"DCC","HGNC:2701","https://search.clinicalgenome.org/kb/genes/HGNC:2701","mirror movements 1 and/or agenesis of the corpus callosum","MONDO:0100515","https://search.clinicalgenome.org/kb/conditions/MONDO:0100515","Autosomal dominant inheritance","","","","","definitive evidence (07/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f923f025-a973-4af8-b2c2-00dc39ed3026-2022-07-26T160000.000Z","Brain Malformations","","",""
"DCDC2","HGNC:18141","https://search.clinicalgenome.org/kb/genes/HGNC:18141","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","limited evidence (08/31/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86802e37-e2a5-43b9-8538-e104859b4c55-2020-08-31T170000.000Z","Hearing Loss","","",""
"DCDC2","HGNC:18141","https://search.clinicalgenome.org/kb/genes/HGNC:18141","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","definitive evidence (10/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_477c8aba-eeba-43dc-a5e2-f6f84b127b8f-2021-10-13T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"DCHS1","HGNC:13681","https://search.clinicalgenome.org/kb/genes/HGNC:13681","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (08/31/2018)","0 - No Evidence for Triplosensitivity (08/31/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13681","Dosage Working Group","disputing (04/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff470254-615c-4f86-8893-0431889c1472-2024-04-02T160000.000Z","Congenital Heart Disease","","",""
"DCHS1","HGNC:13681","https://search.clinicalgenome.org/kb/genes/HGNC:13681","van Maldergem syndrome","MONDO:0017813","https://search.clinicalgenome.org/kb/conditions/MONDO:0017813","Autosomal recessive inheritance","1 - Little Evidence for Haploinsufficiency (08/31/2018)","0 - No Evidence for Triplosensitivity (08/31/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13681","Dosage Working Group","moderate evidence (07/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c551a092-b6ed-406d-828d-58446b5aa1cf-2024-07-02T160000.000Z","Brain Malformations","","",""
"DCLRE1C","HGNC:17642","https://search.clinicalgenome.org/kb/genes/HGNC:17642","severe combined immunodeficiency due to DCLRE1C deficiency","MONDO:0011225","https://search.clinicalgenome.org/kb/conditions/MONDO:0011225","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17642","Dosage Working Group","definitive evidence (02/18/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_603e0855-2b57-4463-a9b7-1c5d70089a4f-2021-02-18T154301.245Z","SCID-CID","","",""
"DCTN1","HGNC:2711","https://search.clinicalgenome.org/kb/genes/HGNC:2711","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","","","","","moderate evidence (08/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cd19f2c-2499-417f-94c8-2bd4bedf34ef-2023-08-04T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"DCX","HGNC:2714","https://search.clinicalgenome.org/kb/genes/HGNC:2714","lissencephaly spectrum disorders","MONDO:0018838","https://search.clinicalgenome.org/kb/conditions/MONDO:0018838","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2714","Dosage Working Group","definitive evidence (02/23/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b0d23d1-5ca6-4584-9d74-cf78ca21b0e1-2021-02-23T150911.296Z","Brain Malformations","","",""
"DCX","HGNC:2714","https://search.clinicalgenome.org/kb/genes/HGNC:2714","lissencephaly type 1 due to doublecortin gene mutation","MONDO:0010239","https://search.clinicalgenome.org/kb/conditions/MONDO:0010239","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2714","Dosage Working Group","","","","","",""
"DCXR","HGNC:18985","https://search.clinicalgenome.org/kb/genes/HGNC:18985","pentosuria","MONDO:0009846","https://search.clinicalgenome.org/kb/conditions/MONDO:0009846","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18985","Dosage Working Group","","","","","",""
"DDB2","HGNC:2718","https://search.clinicalgenome.org/kb/genes/HGNC:2718","xeroderma pigmentosum group E","MONDO:0010213","https://search.clinicalgenome.org/kb/conditions/MONDO:0010213","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2718","Dosage Working Group","definitive evidence (04/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf2a4254-51ec-467a-9194-3962d39a6b20-2019-04-19T160000.000Z","Hereditary Cancer","","",""
"DDC","HGNC:2719","https://search.clinicalgenome.org/kb/genes/HGNC:2719","aromatic L-amino acid decarboxylase deficiency","MONDO:0012084","https://search.clinicalgenome.org/kb/conditions/MONDO:0012084","Autosomal recessive inheritance","","","","","definitive evidence (02/25/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1dea33e3-7cf6-47f9-aa52-2525b439031a-2022-02-25T170000.000Z","General Inborn Errors of Metabolism","","",""
"DDHD1","HGNC:19714","https://search.clinicalgenome.org/kb/genes/HGNC:19714","hereditary spastic paraplegia","MONDO:0019064","https://search.clinicalgenome.org/kb/conditions/MONDO:0019064","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/25/2014)","0 - No Evidence for Triplosensitivity (09/25/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19714","Dosage Working Group","definitive evidence (12/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ba9bbb1-e36f-41db-9e56-23496613e46d-2022-12-01T200000.000Z","Cerebral Palsy","","",""
"DDHD1","HGNC:19714","https://search.clinicalgenome.org/kb/genes/HGNC:19714","hereditary spastic paraplegia 28","MONDO:0012256","https://search.clinicalgenome.org/kb/conditions/MONDO:0012256","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (09/25/2014)","0 - No Evidence for Triplosensitivity (09/25/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19714","Dosage Working Group","","","","","",""
"DDOST","HGNC:2728","https://search.clinicalgenome.org/kb/genes/HGNC:2728","DDOST-congenital disorder of glycosylation","MONDO:0013789","https://search.clinicalgenome.org/kb/conditions/MONDO:0013789","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2728","Dosage Working Group","moderate evidence (11/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0605b51-70c5-42ee-81b5-d45bb0b1fdab-2023-11-15T170000.000Z","Congenital Disorders of Glycosylation","","",""
"DDR2","HGNC:2731","https://search.clinicalgenome.org/kb/genes/HGNC:2731","spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome","MONDO:0010077","https://search.clinicalgenome.org/kb/conditions/MONDO:0010077","Autosomal recessive inheritance","","","","","definitive evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac98a8f4-fedc-425d-ae43-ff4ef848b765-2023-05-30T160000.000Z","Syndromic Disorders","","",""
"DDR2","HGNC:2731","https://search.clinicalgenome.org/kb/genes/HGNC:2731","warburg-cinotti syndrome","MONDO:0032579","https://search.clinicalgenome.org/kb/conditions/MONDO:0032579","Autosomal dominant inheritance","","","","","moderate evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6fc9f08-7935-48c2-a40e-bf93af5c5e1f-2023-05-30T160000.000Z","Syndromic Disorders","","",""
"DDX11","HGNC:2736","https://search.clinicalgenome.org/kb/genes/HGNC:2736","Warsaw breakage syndrome","MONDO:0013252","https://search.clinicalgenome.org/kb/conditions/MONDO:0013252","Autosomal recessive inheritance","","","","","definitive evidence (02/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99d606e6-7d37-4502-bf44-bbf2db469459-2025-02-21T170000.000Z","Syndromic Disorders","","",""
"DDX3X","HGNC:2745","https://search.clinicalgenome.org/kb/genes/HGNC:2745","X-linked syndromic intellectual disability","MONDO:0020119","https://search.clinicalgenome.org/kb/conditions/MONDO:0020119","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/22/2017)","0 - No Evidence for Triplosensitivity (11/22/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2745","Dosage Working Group","definitive evidence (05/05/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b7c89d4-ccb2-4d4e-ad11-9d6051a40b6d-2020-05-05T160000.000Z","Intellectual Disability and Autism","","",""
"DDX3X","HGNC:2745","https://search.clinicalgenome.org/kb/genes/HGNC:2745","intellectual disability, X-linked 102","MONDO:0010497","https://search.clinicalgenome.org/kb/conditions/MONDO:0010497","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/22/2017)","0 - No Evidence for Triplosensitivity (11/22/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2745","Dosage Working Group","","","","","",""
"DDX41","HGNC:18674","https://search.clinicalgenome.org/kb/genes/HGNC:18674","DDX41-related hematologic malignancy predisposition syndrome","MONDO:0014809","https://search.clinicalgenome.org/kb/conditions/MONDO:0014809","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/09/2022)","0 - No Evidence for Triplosensitivity (02/09/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18674","Dosage Working Group","definitive evidence (07/30/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3db8214-a39d-408d-a3c2-7b4e817b1cc1-2020-07-30T202935.621Z","Hereditary Cancer","","",""
"DECR1","HGNC:2753","https://search.clinicalgenome.org/kb/genes/HGNC:2753","progressive encephalopathy with leukodystrophy due to DECR deficiency","MONDO:0014464","https://search.clinicalgenome.org/kb/conditions/MONDO:0014464","Mode of inheritance","","","","","no known disease relationship (01/25/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d25dfe8-8d0b-4b45-b04c-b315ebdceaaa-2021-01-25T194921.121Z","Fatty Acid Oxidation Disorders","","",""
"DEF6","HGNC:2760","https://search.clinicalgenome.org/kb/genes/HGNC:2760","immunodeficiency 87 and autoimmunity","MONDO:0030457","https://search.clinicalgenome.org/kb/conditions/MONDO:0030457","Autosomal recessive inheritance","","","","","moderate evidence (03/04/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4df50c05-bbba-49c8-91f1-181d58d499ab-2025-03-04T170000.000Z","Primary Immune Regulatory Disorders","","",""
"DEGS1","HGNC:13709","https://search.clinicalgenome.org/kb/genes/HGNC:13709","leukodystrophy, hypomyelinating, 18","MONDO:0032730","https://search.clinicalgenome.org/kb/conditions/MONDO:0032730","Autosomal recessive inheritance","","","","","strong evidence (09/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a3090a0-8f88-4114-9438-87f8645ea133-2024-09-23T160000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"DEPDC5","HGNC:18423","https://search.clinicalgenome.org/kb/genes/HGNC:18423","focal epilepsy","MONDO:0005384","https://search.clinicalgenome.org/kb/conditions/MONDO:0005384","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/30/2025)","0 - No Evidence for Triplosensitivity (06/30/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18423","Dosage Working Group","definitive evidence (08/07/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82a82c75-f9a5-4f51-a15c-6513c13df57c-2018-08-07T040000.000Z","Epilepsy","","",""
"DES","HGNC:2770","https://search.clinicalgenome.org/kb/genes/HGNC:2770","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","","","","","moderate evidence (09/11/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aef9a60b-a94f-4318-824e-e748c5c20ecb-2018-09-11T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"DES","HGNC:2770","https://search.clinicalgenome.org/kb/genes/HGNC:2770","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","definitive evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91b2595a-5eb9-4ac3-aa3d-d5f99cacad84-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"DES","HGNC:2770","https://search.clinicalgenome.org/kb/genes/HGNC:2770","myofibrillar myopathy 1","MONDO:0011076","https://search.clinicalgenome.org/kb/conditions/MONDO:0011076","N/A","","","","","","","","Moderate Actionability (09/06/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC155",""
"DES","HGNC:2770","https://search.clinicalgenome.org/kb/genes/HGNC:2770","myofibrillar myopathy","MONDO:0018943","https://search.clinicalgenome.org/kb/conditions/MONDO:0018943","N/A","","","","","","","","Moderate Actionability (09/06/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC155",""
"DGKE","HGNC:2852","https://search.clinicalgenome.org/kb/genes/HGNC:2852","atypical hemolytic-uremic syndrome with DGKE deficiency","MONDO:0018159","https://search.clinicalgenome.org/kb/conditions/MONDO:0018159","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2852","Dosage Working Group","definitive evidence (04/03/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14eaa3eb-1b94-4ae3-a233-7e47e6817021-2025-04-03T160000.000Z","Complement-Mediated Kidney Diseases","","",""
"DGKE","HGNC:2852","https://search.clinicalgenome.org/kb/genes/HGNC:2852","membranoproliferative glomerulonephritis","MONDO:0002461","https://search.clinicalgenome.org/kb/conditions/MONDO:0002461","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2852","Dosage Working Group","definitive evidence (04/03/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99d5772a-c32d-4f71-a67c-8820d13e703c-2025-04-03T160000.000Z","Complement-Mediated Kidney Diseases","","",""
"DGKE","HGNC:2852","https://search.clinicalgenome.org/kb/genes/HGNC:2852","immunoglobulin-mediated membranoproliferative glomerulonephritis","MONDO:0014005","https://search.clinicalgenome.org/kb/conditions/MONDO:0014005","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2852","Dosage Working Group","","","","","",""
"DGUOK","HGNC:2858","https://search.clinicalgenome.org/kb/genes/HGNC:2858","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2858","Dosage Working Group","definitive evidence (02/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd4c3ef2-6738-4770-ad64-4db31672ca9a-2024-02-22T170000.000Z","Mitochondrial Diseases","","",""
"DGUOK","HGNC:2858","https://search.clinicalgenome.org/kb/genes/HGNC:2858","mitochondrial DNA depletion syndrome 3 (hepatocerebral type)","MONDO:0009636","https://search.clinicalgenome.org/kb/conditions/MONDO:0009636","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2858","Dosage Working Group","","","","","",""
"DHCR24","HGNC:2859","https://search.clinicalgenome.org/kb/genes/HGNC:2859","desmosterolosis","MONDO:0011217","https://search.clinicalgenome.org/kb/conditions/MONDO:0011217","Autosomal recessive inheritance","","","","","definitive evidence (06/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0bfe726-6062-406f-bbcf-ccd1f21ba987-2025-06-25T160000.000Z","Prenatal","","",""
"DHCR7","HGNC:2860","https://search.clinicalgenome.org/kb/genes/HGNC:2860","Smith-Lemli-Opitz syndrome","MONDO:0010035","https://search.clinicalgenome.org/kb/conditions/MONDO:0010035","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/04/2012)","0 - No Evidence for Triplosensitivity (04/04/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2860","Dosage Working Group","definitive evidence (08/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d5ed71c9-a76b-44c0-b5c0-44d604f2e0e9-2023-08-15T060000.000Z","Intellectual Disability and Autism","Has Insufficient Evidence for Actionability Based on Early Rule-out (12/03/2019) | Limited Actionability (06/03/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1011 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1011"," | "
"DHDDS","HGNC:20603","https://search.clinicalgenome.org/kb/genes/HGNC:20603","DHDDS-CDG","MONDO:1040054","https://search.clinicalgenome.org/kb/conditions/MONDO:1040054","Autosomal recessive inheritance","","","","","definitive evidence (04/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_748d9424-1f8c-4d72-8e79-2e0b8cc7c445-2023-04-06T160000.000Z","Retina","","",""
"DHODH","HGNC:2867","https://search.clinicalgenome.org/kb/genes/HGNC:2867","postaxial acrofacial dysostosis","MONDO:0009903","https://search.clinicalgenome.org/kb/conditions/MONDO:0009903","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2867","Dosage Working Group","","","","","",""
"DHTKD1","HGNC:23537","https://search.clinicalgenome.org/kb/genes/HGNC:23537","2-aminoadipic 2-oxoadipic aciduria","MONDO:0008774","https://search.clinicalgenome.org/kb/conditions/MONDO:0008774","Autosomal recessive inheritance","","","","","definitive evidence (11/03/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6dd5de3-9819-432d-996c-12a66dff277f-2020-11-03T193815.515Z","Aminoacidopathy","","",""
"DHX30","HGNC:16716","https://search.clinicalgenome.org/kb/genes/HGNC:16716","neurodevelopmental disorder with severe motor impairment and absent language","MONDO:0060622","https://search.clinicalgenome.org/kb/conditions/MONDO:0060622","Autosomal dominant inheritance","","","","","definitive evidence (11/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34f6aaf4-42ed-4871-acc9-efad01ef616e-2024-11-19T170000.000Z","Intellectual Disability and Autism","","",""
"DIABLO","HGNC:21528","https://search.clinicalgenome.org/kb/genes/HGNC:21528","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","limited evidence (09/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5903c3b-b2d7-4c14-b196-37533187d807-2021-09-21T160000.000Z","Hearing Loss","","",""
"DIAPH1","HGNC:2876","https://search.clinicalgenome.org/kb/genes/HGNC:2876","DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome","MONDO:0044635","https://search.clinicalgenome.org/kb/conditions/MONDO:0044635","Autosomal dominant inheritance","","","","","definitive evidence (01/05/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_43c017fd-ce70-4fbe-ad30-90f216adaa7d-2018-01-05T170000.000Z","Hearing Loss","","",""
"DIAPH1","HGNC:2876","https://search.clinicalgenome.org/kb/genes/HGNC:2876","progressive microcephaly-seizures-cortical blindness-developmental delay syndrome","MONDO:0014714","https://search.clinicalgenome.org/kb/conditions/MONDO:0014714","Autosomal recessive inheritance","","","","","definitive evidence (11/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a6bb748-bda5-4d57-ab9c-00882cbefdf6-2024-11-21T170000.000Z","SCID-CID","","",""
"DIAPH3","HGNC:15480","https://search.clinicalgenome.org/kb/genes/HGNC:15480","auditory neuropathy","MONDO:0021944","https://search.clinicalgenome.org/kb/conditions/MONDO:0021944","Autosomal dominant inheritance","","","","","limited evidence (02/06/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc54aaf6-8e1b-4c98-bcbe-e1f337f6eadc-2020-02-06T170000.000Z","Hearing Loss","","",""
"DICER1","HGNC:17098","https://search.clinicalgenome.org/kb/genes/HGNC:17098","DICER1-related tumor predisposition","MONDO:0100216","https://search.clinicalgenome.org/kb/conditions/MONDO:0100216","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/09/2022)","0 - No Evidence for Triplosensitivity (02/09/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17098","Dosage Working Group","definitive evidence (07/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aeabfc3b-63a9-40f2-9c71-41b079fee4e2-2023-07-05T170000.000Z","Hereditary Cancer","Moderate Actionability (05/29/2019)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC002",""
"DICER1","HGNC:17098","https://search.clinicalgenome.org/kb/genes/HGNC:17098","goiter, multinodular 1, with or without Sertoli-Leydig cell tumors","MONDO:0007681","https://search.clinicalgenome.org/kb/conditions/MONDO:0007681","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/09/2022)","0 - No Evidence for Triplosensitivity (02/09/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17098","Dosage Working Group","","","","Assertion Pending (05/29/2019) | Moderate Actionability (05/29/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC002 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC002"," | "
"DICER1","HGNC:17098","https://search.clinicalgenome.org/kb/genes/HGNC:17098","obsolete DICER1 syndrome","MONDO:0017288","https://search.clinicalgenome.org/kb/conditions/MONDO:0017288","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/09/2022)","0 - No Evidence for Triplosensitivity (02/09/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17098","Dosage Working Group","","","","Assertion Pending (05/29/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC002",""
"DICER1","HGNC:17098","https://search.clinicalgenome.org/kb/genes/HGNC:17098","pleuropulmonary blastoma","MONDO:0011014","https://search.clinicalgenome.org/kb/conditions/MONDO:0011014","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/09/2022)","0 - No Evidence for Triplosensitivity (02/09/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17098","Dosage Working Group","","","","Assertion Pending (05/29/2019) | Moderate Actionability (05/29/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC002 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC002"," | "
"DICER1","HGNC:17098","https://search.clinicalgenome.org/kb/genes/HGNC:17098","rhabdomyosarcoma","MONDO:0005212","https://search.clinicalgenome.org/kb/conditions/MONDO:0005212","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/09/2022)","0 - No Evidence for Triplosensitivity (02/09/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17098","Dosage Working Group","","","","Assertion Pending (05/29/2019) | Moderate Actionability (05/29/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC002 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC002"," | "
"DIP2A","HGNC:17217","https://search.clinicalgenome.org/kb/genes/HGNC:17217","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (01/23/2019)","0 - No Evidence for Triplosensitivity (01/23/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17217","Dosage Working Group","","","","","",""
"DIS3L2","HGNC:28648","https://search.clinicalgenome.org/kb/genes/HGNC:28648","Perlman syndrome","MONDO:0009965","https://search.clinicalgenome.org/kb/conditions/MONDO:0009965","Autosomal recessive inheritance","1 - Little Evidence for Haploinsufficiency (10/14/2020)","0 - No Evidence for Triplosensitivity (10/14/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28648","Dosage Working Group","definitive evidence (11/21/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e68b93df-e0e7-4d46-8934-8b86064c0b37-2019-11-21T193052.781Z","Hereditary Cancer","","",""
"DISP1","HGNC:19711","https://search.clinicalgenome.org/kb/genes/HGNC:19711","holoprosencephaly","MONDO:0016296","https://search.clinicalgenome.org/kb/conditions/MONDO:0016296","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19711","Dosage Working Group","limited evidence (09/27/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef9d5a3b-d4ec-473b-b5a2-aaa25cf9babd-2022-09-27T090000.000Z","Brain Malformations","","",""
"DKC1","HGNC:2890","https://search.clinicalgenome.org/kb/genes/HGNC:2890","DKC1-related disorder","MONDO:0100152","https://search.clinicalgenome.org/kb/conditions/MONDO:0100152","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (06/14/2023)","0 - No Evidence for Triplosensitivity (06/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2890","Dosage Working Group","definitive evidence (09/13/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afd6a4ca-7a1c-42ef-a9cf-bef557128f12-2020-09-13T153338.000Z","Intellectual Disability and Autism","","",""
"DKC1","HGNC:2890","https://search.clinicalgenome.org/kb/genes/HGNC:2890","dyskeratosis congenita, X-linked","MONDO:0010584","https://search.clinicalgenome.org/kb/conditions/MONDO:0010584","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (06/14/2023)","0 - No Evidence for Triplosensitivity (06/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2890","Dosage Working Group","definitive evidence (09/22/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb90bea1-16e7-44da-8551-91fb5fd7088a-2025-09-22T170000.000Z","Hereditary Cancer","","",""
"DLAT","HGNC:2896","https://search.clinicalgenome.org/kb/genes/HGNC:2896","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (01/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78e45dbe-ea30-434d-9522-aa1731b9a764-2021-01-14T212056.234Z","Mitochondrial Diseases","","",""
"DLD","HGNC:2898","https://search.clinicalgenome.org/kb/genes/HGNC:2898","pyruvate dehydrogenase E3 deficiency","MONDO:0009529","https://search.clinicalgenome.org/kb/conditions/MONDO:0009529","Autosomal recessive inheritance","","","","","definitive evidence (03/08/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9dfbbc2-cede-491e-9db0-fc5719fbc729-2019-03-08T170000.000Z","Aminoacidopathy","","",""
"DLD","HGNC:2898","https://search.clinicalgenome.org/kb/genes/HGNC:2898","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","definitive evidence (03/11/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_990dd96f-16ec-4c0f-a46b-ce4a647b7a50-2021-03-11T171246.198Z","Mitochondrial Diseases","","",""
"DLG2","HGNC:2901","https://search.clinicalgenome.org/kb/genes/HGNC:2901","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (11/28/2018)","0 - No Evidence for Triplosensitivity (11/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2901","Dosage Working Group","","","","","",""
"DLG3","HGNC:2902","https://search.clinicalgenome.org/kb/genes/HGNC:2902","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/25/2024)","0 - No Evidence for Triplosensitivity (04/25/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2902","Dosage Working Group","definitive evidence (08/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e73a08f0-ff3a-4328-9020-89102296e405-2018-08-24T100000.000Z","Intellectual Disability and Autism","","",""
"DLG4","HGNC:2903","https://search.clinicalgenome.org/kb/genes/HGNC:2903","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/10/2023)","0 - No Evidence for Triplosensitivity (10/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2903","Dosage Working Group","definitive evidence (01/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe31e200-7afd-49a9-80e0-60f9236c7dab-2023-01-16T230000.000Z","Intellectual Disability and Autism","","",""
"DLGAP2","HGNC:2906","https://search.clinicalgenome.org/kb/genes/HGNC:2906","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/22/2012)","0 - No Evidence for Triplosensitivity (03/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2906","Dosage Working Group","limited evidence (10/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_efeafdd5-9105-470f-b332-8c7a3dd65078-2021-10-13T220000.000Z","Intellectual Disability and Autism","","",""
"DLL1","HGNC:2908","https://search.clinicalgenome.org/kb/genes/HGNC:2908","neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures","MONDO:0032877","https://search.clinicalgenome.org/kb/conditions/MONDO:0032877","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/09/2021)","0 - No Evidence for Triplosensitivity (03/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2908","Dosage Working Group","definitive evidence (07/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83ba0dc3-95f6-4c50-8616-ea2d3eeb7456-2024-07-02T160000.000Z","Brain Malformations","","",""
"DLX5","HGNC:2918","https://search.clinicalgenome.org/kb/genes/HGNC:2918","split hand-foot malformation 1 with sensorineural hearing loss","MONDO:0009080","https://search.clinicalgenome.org/kb/conditions/MONDO:0009080","N/A","0 - No Evidence for Haploinsufficiency (05/14/2012)","0 - No Evidence for Triplosensitivity (05/14/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2918","Dosage Working Group","","","","","",""
"DLX6","HGNC:2919","https://search.clinicalgenome.org/kb/genes/HGNC:2919","split hand-foot malformation 1 with sensorineural hearing loss","MONDO:0009080","https://search.clinicalgenome.org/kb/conditions/MONDO:0009080","N/A","0 - No Evidence for Haploinsufficiency (05/14/2012)","0 - No Evidence for Triplosensitivity (05/14/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2919","Dosage Working Group","","","","","",""
"DMD","HGNC:2928","https://search.clinicalgenome.org/kb/genes/HGNC:2928","progressive muscular dystrophy","MONDO:0016106","https://search.clinicalgenome.org/kb/conditions/MONDO:0016106","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/20/2019)","0 - No Evidence for Triplosensitivity (11/20/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2928","Dosage Working Group","definitive evidence (11/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b528435f-dc16-45e0-9f0f-2da3f293ab4c-2024-11-14T170000.000Z","Muscular Dystrophies and Myopathies","","",""
"DMD","HGNC:2928","https://search.clinicalgenome.org/kb/genes/HGNC:2928","dilated cardiomyopathy 3B","MONDO:0010542","https://search.clinicalgenome.org/kb/conditions/MONDO:0010542","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/20/2019)","0 - No Evidence for Triplosensitivity (11/20/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2928","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC138",""
"DMD","HGNC:2928","https://search.clinicalgenome.org/kb/genes/HGNC:2928","Duchenne muscular dystrophy","MONDO:0010679","https://search.clinicalgenome.org/kb/conditions/MONDO:0010679","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/20/2019)","0 - No Evidence for Triplosensitivity (11/20/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2928","Dosage Working Group","","","","","",""
"DMGDH","HGNC:24475","https://search.clinicalgenome.org/kb/genes/HGNC:24475","dimethylglycine dehydrogenase deficiency","MONDO:0011610","https://search.clinicalgenome.org/kb/conditions/MONDO:0011610","Autosomal recessive inheritance","","","","","limited evidence (12/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b181250b-bc72-43b7-adec-5b85860b1a62-2022-12-12T170000.000Z","Aminoacidopathy","","",""
"DMP1","HGNC:2932","https://search.clinicalgenome.org/kb/genes/HGNC:2932","hypophosphatemic rickets, autosomal recessive, 1","MONDO:0009430","https://search.clinicalgenome.org/kb/conditions/MONDO:0009430","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2932","Dosage Working Group","","","","","",""
"DMRT1","HGNC:2934","https://search.clinicalgenome.org/kb/genes/HGNC:2934","disorder of sexual differentiation","MONDO:0002145","https://search.clinicalgenome.org/kb/conditions/MONDO:0002145","N/A","1 - Little Evidence for Haploinsufficiency (11/10/2023)","0 - No Evidence for Triplosensitivity (11/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2934","Dosage Working Group","","","","","",""
"DMXL2","HGNC:2938","https://search.clinicalgenome.org/kb/genes/HGNC:2938","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (04/04/2012)","0 - No Evidence for Triplosensitivity (04/04/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2938","Dosage Working Group","limited evidence (02/06/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_746b46e8-0621-4879-80a1-4fb1679975be-2020-02-06T170000.000Z","Hearing Loss","","",""
"DNAAF1","HGNC:30539","https://search.clinicalgenome.org/kb/genes/HGNC:30539","primary ciliary dyskinesia 13","MONDO:0013174","https://search.clinicalgenome.org/kb/conditions/MONDO:0013174","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30539","Dosage Working Group","definitive evidence (03/09/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41e4b8cd-35bd-4e99-ba2d-606f191a13cf-2023-03-09T170000.000Z","Motile Ciliopathy GCEP","","",""
"DNAAF11","HGNC:16725","https://search.clinicalgenome.org/kb/genes/HGNC:16725","primary ciliary dyskinesia 19","MONDO:0013979","https://search.clinicalgenome.org/kb/conditions/MONDO:0013979","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16725","Dosage Working Group","definitive evidence (06/08/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7063ef1e-8ce2-4f35-a765-f08efc2e541a-2023-06-08T160000.000Z","Motile Ciliopathy GCEP","","",""
"DNAAF19","HGNC:32700","https://search.clinicalgenome.org/kb/genes/HGNC:32700","primary ciliary dyskinesia 17","MONDO:0013854","https://search.clinicalgenome.org/kb/conditions/MONDO:0013854","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:32700","Dosage Working Group","definitive evidence (12/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9974aaef-9082-4bcd-b05a-28869447b5de-2022-12-30T120000.000Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"DNAAF2","HGNC:20188","https://search.clinicalgenome.org/kb/genes/HGNC:20188","primary ciliary dyskinesia 10","MONDO:0012918","https://search.clinicalgenome.org/kb/conditions/MONDO:0012918","Autosomal recessive inheritance","","","","","definitive evidence (02/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39e5de96-3f16-4dde-a7bc-b3e27364b7f8-2024-02-08T170000.000Z","Motile Ciliopathy GCEP","","",""
"DNAAF3","HGNC:30492","https://search.clinicalgenome.org/kb/genes/HGNC:30492","primary ciliary dyskinesia 2","MONDO:0011718","https://search.clinicalgenome.org/kb/conditions/MONDO:0011718","Autosomal recessive inheritance","","","","","definitive evidence (05/09/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40329b6f-2d65-49dd-863b-f79dcd1b5a23-2022-05-09T155600.823Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"DNAAF4","HGNC:21493","https://search.clinicalgenome.org/kb/genes/HGNC:21493","primary ciliary dyskinesia 25","MONDO:0014203","https://search.clinicalgenome.org/kb/conditions/MONDO:0014203","Autosomal recessive inheritance","","","","","definitive evidence (04/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79950f5d-fd90-4765-9f8a-489c3f862fcd-2024-04-11T160000.000Z","Motile Ciliopathy GCEP","","",""
"DNAAF5","HGNC:26013","https://search.clinicalgenome.org/kb/genes/HGNC:26013","primary ciliary dyskinesia 18","MONDO:0013940","https://search.clinicalgenome.org/kb/conditions/MONDO:0013940","Autosomal recessive inheritance","","","","","definitive evidence (06/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b47c717-e0a5-43ce-865b-0b14289216d7-2024-06-19T110000.000Z","Motile Ciliopathy GCEP","","",""
"DNAAF6","HGNC:28570","https://search.clinicalgenome.org/kb/genes/HGNC:28570","ciliary dyskinesia, primary, 36, X-linked","MONDO:0010517","https://search.clinicalgenome.org/kb/conditions/MONDO:0010517","X-linked inheritance","","","","","definitive evidence (08/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5de9de15-2c09-48f5-bcaf-08c42b97700e-2024-08-17T190000.000Z","Motile Ciliopathy GCEP","","",""
"DNAH1","HGNC:2940","https://search.clinicalgenome.org/kb/genes/HGNC:2940","ciliary dyskinesia, primary, 37","MONDO:0033204","https://search.clinicalgenome.org/kb/conditions/MONDO:0033204","Autosomal recessive inheritance","","","","","limited evidence (04/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a07c8b6e-a558-498b-975c-b12e96878a44-2022-04-14T013721.941Z","Motile Ciliopathy GCEP","","",""
"DNAH1","HGNC:2940","https://search.clinicalgenome.org/kb/genes/HGNC:2940","spermatogenic failure 18","MONDO:0054615","https://search.clinicalgenome.org/kb/conditions/MONDO:0054615","Autosomal recessive inheritance","","","","","definitive evidence (05/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a5dff5a-ff66-4e80-9eca-cb5f924edb73-2022-05-26T160000.000Z","Motile Ciliopathy GCEP","","",""
"DNAH10","HGNC:2941","https://search.clinicalgenome.org/kb/genes/HGNC:2941","primary ciliary dyskinesia","MONDO:0016575","https://search.clinicalgenome.org/kb/conditions/MONDO:0016575","Autosomal recessive inheritance","","","","","limited evidence (02/13/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_698c6b23-a6fb-4b56-a38e-b29d5f8bbd86-2025-02-13T170000.000Z","Motile Ciliopathy GCEP","","",""
"DNAH10","HGNC:2941","https://search.clinicalgenome.org/kb/genes/HGNC:2941","spermatogenic failure 56","MONDO:0030430","https://search.clinicalgenome.org/kb/conditions/MONDO:0030430","Autosomal recessive inheritance","","","","","moderate evidence (02/13/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0128b225-6f43-4ed2-b111-a50dde1b25e5-2025-02-13T170000.000Z","Motile Ciliopathy GCEP","","",""
"DNAH11","HGNC:2942","https://search.clinicalgenome.org/kb/genes/HGNC:2942","primary ciliary dyskinesia 7","MONDO:0012748","https://search.clinicalgenome.org/kb/conditions/MONDO:0012748","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2942","Dosage Working Group","definitive evidence (10/25/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_84088c46-0763-4ed6-9352-530d846e8b24-2021-10-25T190427.941Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"DNAH12","HGNC:2943","https://search.clinicalgenome.org/kb/genes/HGNC:2943","spermatogenic failure","MONDO:0004983","https://search.clinicalgenome.org/kb/conditions/MONDO:0004983","Autosomal recessive inheritance","","","","","definitive evidence (05/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2911f00b-c01b-40fb-a82e-38e004eda251-2025-05-08T160000.000Z","Motile Ciliopathy GCEP","","",""
"DNAH14","HGNC:2945","https://search.clinicalgenome.org/kb/genes/HGNC:2945","primary ciliary dyskinesia","MONDO:0016575","https://search.clinicalgenome.org/kb/conditions/MONDO:0016575","Autosomal recessive inheritance","","","","","disputing (05/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f97c277b-f717-4bcb-a678-eb1ffb37be29-2025-05-08T160000.000Z","Motile Ciliopathy GCEP","","",""
"DNAH17","HGNC:2946","https://search.clinicalgenome.org/kb/genes/HGNC:2946","spermatogenic failure 39","MONDO:0032845","https://search.clinicalgenome.org/kb/conditions/MONDO:0032845","Autosomal recessive inheritance","","","","","definitive evidence (09/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef0cbb29-220d-45ae-828c-ab233dcf4824-2022-09-08T110000.000Z","Motile Ciliopathy GCEP","","",""
"DNAH5","HGNC:2950","https://search.clinicalgenome.org/kb/genes/HGNC:2950","primary ciliary dyskinesia 3","MONDO:0012085","https://search.clinicalgenome.org/kb/conditions/MONDO:0012085","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2950","Dosage Working Group","definitive evidence (01/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4390dba1-012d-4e08-a841-ffc08ebdc737-2022-01-07T190607.723Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"DNAH6","HGNC:2951","https://search.clinicalgenome.org/kb/genes/HGNC:2951","primary ciliary dyskinesia","MONDO:0016575","https://search.clinicalgenome.org/kb/conditions/MONDO:0016575","Autosomal recessive inheritance","","","","","disputing (01/09/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e919f48-1c90-45d9-b909-9a619e4e71d0-2025-01-09T170000.000Z","Motile Ciliopathy GCEP","","",""
"DNAH6","HGNC:2951","https://search.clinicalgenome.org/kb/genes/HGNC:2951","spermatogenic failure","MONDO:0004983","https://search.clinicalgenome.org/kb/conditions/MONDO:0004983","Autosomal recessive inheritance","","","","","strong evidence (02/13/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8654311-1904-48c5-951d-0fa8b6e61caa-2025-02-13T170000.000Z","Motile Ciliopathy GCEP","","",""
"DNAH7","HGNC:18661","https://search.clinicalgenome.org/kb/genes/HGNC:18661","ciliary dyskinesia, primary, 50","MONDO:0957252","https://search.clinicalgenome.org/kb/conditions/MONDO:0957252","Autosomal recessive inheritance","","","","","limited evidence (02/13/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90a097d6-5127-4466-8c81-00e99dab2696-2025-02-13T170000.000Z","Motile Ciliopathy GCEP","","",""
"DNAH8","HGNC:2952","https://search.clinicalgenome.org/kb/genes/HGNC:2952","primary ciliary dyskinesia","MONDO:0016575","https://search.clinicalgenome.org/kb/conditions/MONDO:0016575","Autosomal recessive inheritance","","","","","disputing (06/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c98a44d-6d43-48fc-8286-9e499bf04a1b-2022-06-23T160000.000Z","Motile Ciliopathy GCEP","","",""
"DNAH8","HGNC:2952","https://search.clinicalgenome.org/kb/genes/HGNC:2952","spermatogenic failure 46","MONDO:0033673","https://search.clinicalgenome.org/kb/conditions/MONDO:0033673","Autosomal recessive inheritance","","","","","strong evidence (06/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e740f4af-53fe-4c51-99f6-6111fe343d7f-2022-06-23T160000.000Z","Motile Ciliopathy GCEP","","",""
"DNAH9","HGNC:2953","https://search.clinicalgenome.org/kb/genes/HGNC:2953","ciliary dyskinesia, primary, 40","MONDO:0032664","https://search.clinicalgenome.org/kb/conditions/MONDO:0032664","Autosomal recessive inheritance","","","","","definitive evidence (09/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d4c2324-1f4e-48d6-b7e9-cc66f7a9dda3-2024-09-19T160000.000Z","Motile Ciliopathy GCEP","","",""
"DNAI1","HGNC:2954","https://search.clinicalgenome.org/kb/genes/HGNC:2954","primary ciliary dyskinesia 1","MONDO:0009484","https://search.clinicalgenome.org/kb/conditions/MONDO:0009484","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2954","Dosage Working Group","definitive evidence (06/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_396be572-5b2c-4859-90dd-434a91c1ce96-2022-06-30T160000.000Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"DNAI2","HGNC:18744","https://search.clinicalgenome.org/kb/genes/HGNC:18744","primary ciliary dyskinesia 9","MONDO:0012906","https://search.clinicalgenome.org/kb/conditions/MONDO:0012906","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18744","Dosage Working Group","definitive evidence (08/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_225300ab-ad49-4043-875b-a27a54d37b72-2022-08-11T160000.000Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"DNAJB11","HGNC:14889","https://search.clinicalgenome.org/kb/genes/HGNC:14889","autosomal dominant polycystic kidney disease","MONDO:0004691","https://search.clinicalgenome.org/kb/conditions/MONDO:0004691","Autosomal dominant inheritance","","","","","definitive evidence (10/25/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbbe08a1-2f13-445d-9492-d1f070e66c0c-2023-10-25T160000.000Z","Kidney Cystic and Ciliopathy Disorders","Moderate Actionability (11/05/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC037",""
"DNAJB11","HGNC:14889","https://search.clinicalgenome.org/kb/genes/HGNC:14889","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","limited evidence (04/27/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42197b67-3c9d-47e6-b9c2-d6d3ef076acc-2022-04-27T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"DNAJB11","HGNC:14889","https://search.clinicalgenome.org/kb/genes/HGNC:14889","polycystic kidney disease 6 with or without polycystic liver disease","MONDO:0054842","https://search.clinicalgenome.org/kb/conditions/MONDO:0054842","N/A","","","","","","","","Moderate Actionability (11/05/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC037",""
"DNAJB13","HGNC:30718","https://search.clinicalgenome.org/kb/genes/HGNC:30718","primary ciliary dyskinesia 34","MONDO:0014909","https://search.clinicalgenome.org/kb/conditions/MONDO:0014909","Autosomal recessive inheritance","","","","","moderate evidence (06/12/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd64a9ab-9f83-43c8-a23d-2617da493010-2025-06-12T090000.000Z","Motile Ciliopathy GCEP","","",""
"DNAJB2","HGNC:5228","https://search.clinicalgenome.org/kb/genes/HGNC:5228","Charcot-Marie-Tooth disease axonal type 2T","MONDO:0014866","https://search.clinicalgenome.org/kb/conditions/MONDO:0014866","Autosomal recessive inheritance","","","","","definitive evidence (02/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d726e4f-6edb-4d04-b2ae-2cd05ecdd8db-2022-02-10T022350.942Z","Charcot-Marie-Tooth","","",""
"DNAJB6","HGNC:14888","https://search.clinicalgenome.org/kb/genes/HGNC:14888","muscular dystrophy, limb-girdle, autosomal dominant","MONDO:0015151","https://search.clinicalgenome.org/kb/conditions/MONDO:0015151","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/29/2012)","0 - No Evidence for Triplosensitivity (10/29/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14888","Dosage Working Group","definitive evidence (08/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_97c1cb24-7c3b-4cd2-90f4-2b56fb539539-2024-08-13T190000.000Z","Muscular Dystrophies and Myopathies","","",""
"DNAJC12","HGNC:28908","https://search.clinicalgenome.org/kb/genes/HGNC:28908","hyperphenylalaninemia due to DNAJC12 deficiency","MONDO:0044304","https://search.clinicalgenome.org/kb/conditions/MONDO:0044304","Autosomal recessive inheritance","","","","","definitive evidence (01/11/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_500ad0d5-2871-4b25-a96f-0c0816524a4b-2021-01-11T184823.935Z","Aminoacidopathy","","",""
"DNAJC19","HGNC:30528","https://search.clinicalgenome.org/kb/genes/HGNC:30528","3-methylglutaconic aciduria type 5","MONDO:0012435","https://search.clinicalgenome.org/kb/conditions/MONDO:0012435","Autosomal recessive inheritance","","","","","definitive evidence (09/24/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa7f8087-632d-4044-9e20-722085c3b42c-2021-09-24T024347.391Z","General Inborn Errors of Metabolism","","",""
"DNAJC21","HGNC:27030","https://search.clinicalgenome.org/kb/genes/HGNC:27030","bone marrow failure syndrome 3","MONDO:0014887","https://search.clinicalgenome.org/kb/conditions/MONDO:0014887","Autosomal recessive inheritance","1 - Little Evidence for Haploinsufficiency (10/14/2020)","0 - No Evidence for Triplosensitivity (10/14/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:27030","Dosage Working Group","definitive evidence (03/11/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff6cd8ae-86bd-4dc5-a2ca-ddca284c826c-2025-03-11T160000.000Z","Childhood, Adolescent and Young Adult Cancer Predisposition","","",""
"DNAJC5","HGNC:16235","https://search.clinicalgenome.org/kb/genes/HGNC:16235","adult neuronal ceroid lipofuscinosis","MONDO:0019260","https://search.clinicalgenome.org/kb/conditions/MONDO:0019260","Autosomal dominant inheritance","","","","","moderate evidence (01/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67f55ef1-b312-4aac-bc04-67beb2405b4f-2025-01-07T170000.000Z","Epilepsy","","",""
"DNAJC6","HGNC:15469","https://search.clinicalgenome.org/kb/genes/HGNC:15469","juvenile onset Parkinson disease 19A","MONDO:0014231","https://search.clinicalgenome.org/kb/conditions/MONDO:0014231","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15469","Dosage Working Group","","","","","",""
"DNAJC7","HGNC:12392","https://search.clinicalgenome.org/kb/genes/HGNC:12392","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","","","","","limited evidence (10/27/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2a12a19-b37a-4654-87fa-3a921c202c87-2022-10-27T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"DNAL1","HGNC:23247","https://search.clinicalgenome.org/kb/genes/HGNC:23247","primary ciliary dyskinesia 16","MONDO:0013525","https://search.clinicalgenome.org/kb/conditions/MONDO:0013525","Autosomal recessive inheritance","","","","","definitive evidence (04/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54088550-2704-4c1b-ac1b-51b62353a223-2024-04-11T160000.000Z","Motile Ciliopathy GCEP","","",""
"DNASE1","HGNC:2956","https://search.clinicalgenome.org/kb/genes/HGNC:2956","systemic lupus erythematosus","MONDO:0007915","https://search.clinicalgenome.org/kb/conditions/MONDO:0007915","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (02/22/2012)","0 - No Evidence for Triplosensitivity (02/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2956","Dosage Working Group","limited evidence (06/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b71d9246-5a7e-4e81-8fc6-925181d124cd-2024-06-14T190000.000Z","Monogenic Systemic and Incomplete Lupus Erythematosus","","",""
"DNASE1L3","HGNC:2959","https://search.clinicalgenome.org/kb/genes/HGNC:2959","autosomal systemic lupus erythematosus type 16","MONDO:0013743","https://search.clinicalgenome.org/kb/conditions/MONDO:0013743","Autosomal recessive inheritance","","","","","definitive evidence (05/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_77450e46-30fa-4be0-aa0e-4e31f04a117e-2024-05-08T190000.000Z","Monogenic Systemic and Incomplete Lupus Erythematosus","","",""
"DNM1","HGNC:2972","https://search.clinicalgenome.org/kb/genes/HGNC:2972","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance | Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/08/2023)","0 - No Evidence for Triplosensitivity (08/08/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2972","Dosage Working Group","definitive evidence (02/06/2024) | moderate evidence (02/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31f598a3-7efd-4e43-83f3-587e98924260-2024-02-06T080000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d252b0e-4777-4fbf-a23f-4ea7175b37d5-2024-02-06T200000.000Z","Epilepsy | Epilepsy","","",""
"DNM1L","HGNC:2973","https://search.clinicalgenome.org/kb/genes/HGNC:2973","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","limited evidence (06/30/2021) | limited evidence (06/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c22e9c6b-f04d-4d56-acb3-baa308c596b7-2021-06-30T144120.695Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a922695-f136-44f8-ab1a-6581e0efafec-2021-06-30T144517.300Z","Mitochondrial Diseases | Mitochondrial Diseases","","",""
"DNM1L","HGNC:2973","https://search.clinicalgenome.org/kb/genes/HGNC:2973","encephalopathy due to mitochondrial and peroxisomal fission defect","MONDO:0054865","https://search.clinicalgenome.org/kb/conditions/MONDO:0054865","Autosomal dominant inheritance","","","","","definitive evidence (04/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_320f4ab3-19c3-458e-9e81-0f380cbfebbd-2022-04-15T160000.000Z","Peroxisomal Disorders","","",""
"DNM2","HGNC:2974","https://search.clinicalgenome.org/kb/genes/HGNC:2974","autosomal dominant centronuclear myopathy","MONDO:0008048","https://search.clinicalgenome.org/kb/conditions/MONDO:0008048","Autosomal dominant inheritance","","","","","definitive evidence (12/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4156721-f6b9-482c-b610-97753f3f722d-2019-12-20T170000.000Z","Congenital Myopathies","","",""
"DNM2","HGNC:2974","https://search.clinicalgenome.org/kb/genes/HGNC:2974","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Autosomal dominant inheritance","","","","","definitive evidence (10/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7bc54e5d-eed5-4d40-9e0d-143bfeb88cac-2020-10-27T131827.010Z","Charcot-Marie-Tooth","","",""
"DNM2","HGNC:2974","https://search.clinicalgenome.org/kb/genes/HGNC:2974","autosomal dominant Charcot-Marie-Tooth disease type 2M","MONDO:0016431","https://search.clinicalgenome.org/kb/conditions/MONDO:0016431","N/A","","","","","","","","Assertion Pending (12/20/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC148",""
"DNM2","HGNC:2974","https://search.clinicalgenome.org/kb/genes/HGNC:2974","autosomal dominant intermediate Charcot-Marie-Tooth disease","MONDO:0019548","https://search.clinicalgenome.org/kb/conditions/MONDO:0019548","N/A","","","","","","","","Assertion Pending (12/20/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC148",""
"DNM2","HGNC:2974","https://search.clinicalgenome.org/kb/genes/HGNC:2974","Charcot-Marie-Tooth disease dominant intermediate B","MONDO:0011674","https://search.clinicalgenome.org/kb/conditions/MONDO:0011674","N/A","","","","","","","","Assertion Pending (12/20/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC148",""
"DNMT1","HGNC:2976","https://search.clinicalgenome.org/kb/genes/HGNC:2976","autosomal dominant cerebellar ataxia, deafness and narcolepsy","MONDO:0011397","https://search.clinicalgenome.org/kb/conditions/MONDO:0011397","Autosomal dominant inheritance","","","","","definitive evidence (02/10/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_6235","Hearing Loss","","",""
"DNMT3A","HGNC:2978","https://search.clinicalgenome.org/kb/genes/HGNC:2978","Heyn-Sproul-Jackson syndrome","MONDO:0032882","https://search.clinicalgenome.org/kb/conditions/MONDO:0032882","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/25/2024)","0 - No Evidence for Triplosensitivity (09/25/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2978","Dosage Working Group","limited evidence (06/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c4959e0-72fe-49e2-8e7e-639539dc9095-2023-06-07T220000.000Z","Intellectual Disability and Autism","","",""
"DNMT3A","HGNC:2978","https://search.clinicalgenome.org/kb/genes/HGNC:2978","Tatton-Brown-Rahman overgrowth syndrome","MONDO:0014382","https://search.clinicalgenome.org/kb/conditions/MONDO:0014382","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/25/2024)","0 - No Evidence for Triplosensitivity (09/25/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2978","Dosage Working Group","definitive evidence (06/08/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c34cf649-4fbd-4184-9bef-34a780766aca-2023-06-08T060000.000Z","Intellectual Disability and Autism","","",""
"DNMT3B","HGNC:2979","https://search.clinicalgenome.org/kb/genes/HGNC:2979","immunodeficiency-centromeric instability-facial anomalies syndrome 1","MONDO:0009454","https://search.clinicalgenome.org/kb/conditions/MONDO:0009454","Autosomal recessive inheritance","","","","","strong evidence (04/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3482d453-c6c8-483d-8333-dbe4d5bd9b66-2023-04-16T170000.000Z","SCID-CID","","",""
"DOCK2","HGNC:2988","https://search.clinicalgenome.org/kb/genes/HGNC:2988","DOCK2 deficiency","MONDO:0014637","https://search.clinicalgenome.org/kb/conditions/MONDO:0014637","Autosomal recessive inheritance","","","","","definitive evidence (11/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_63c0fb9c-33a6-4590-91a1-8ebe3967c4a6-2022-11-17T180000.000Z","SCID-CID","","",""
"DOCK6","HGNC:19189","https://search.clinicalgenome.org/kb/genes/HGNC:19189","Adams-Oliver syndrome","MONDO:0007034","https://search.clinicalgenome.org/kb/conditions/MONDO:0007034","Autosomal recessive inheritance","","","","","definitive evidence (06/28/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea64d74c-583d-4ed1-af91-6a7c6f80a1d3-2022-06-28T160000.000Z","Brain Malformations","","",""
"DOCK7","HGNC:19190","https://search.clinicalgenome.org/kb/genes/HGNC:19190","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19190","Dosage Working Group","definitive evidence (07/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b6ed421-950b-4862-bade-dc545555ac29-2021-07-28T192512.688Z","Epilepsy","","",""
"DOCK7","HGNC:19190","https://search.clinicalgenome.org/kb/genes/HGNC:19190","developmental and epileptic encephalopathy, 23","MONDO:0014371","https://search.clinicalgenome.org/kb/conditions/MONDO:0014371","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19190","Dosage Working Group","","","","","",""
"DOCK8","HGNC:19191","https://search.clinicalgenome.org/kb/genes/HGNC:19191","combined immunodeficiency due to DOCK8 deficiency","MONDO:0009478","https://search.clinicalgenome.org/kb/conditions/MONDO:0009478","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/14/2023)","0 - No Evidence for Triplosensitivity (06/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19191","Dosage Working Group","definitive evidence (04/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07811d37-10c8-44dd-88b2-a2b574e59ac4-2021-04-09T142917.716Z","SCID-CID","","",""
"DOK7","HGNC:26594","https://search.clinicalgenome.org/kb/genes/HGNC:26594","congenital myasthenic syndrome 10","MONDO:0009690","https://search.clinicalgenome.org/kb/conditions/MONDO:0009690","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26594","Dosage Working Group","definitive evidence (02/24/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b40a6c0a-1152-4d29-8ba3-1136600085b9-2025-02-24T050000.000Z","Congenital Myopathies","","",""
"DOLK","HGNC:23406","https://search.clinicalgenome.org/kb/genes/HGNC:23406","DK1-congenital disorder of glycosylation","MONDO:0012556","https://search.clinicalgenome.org/kb/conditions/MONDO:0012556","Autosomal recessive inheritance","","","","","definitive evidence (04/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b780e34-fb4d-47d7-8436-6bdb6025bc72-2024-04-04T160000.000Z","Congenital Disorders of Glycosylation","","",""
"DPAGT1","HGNC:2995","https://search.clinicalgenome.org/kb/genes/HGNC:2995","DPAGT1-congenital disorder of glycosylation","MONDO:0011964","https://search.clinicalgenome.org/kb/conditions/MONDO:0011964","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2995","Dosage Working Group","definitive evidence (06/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac9d420c-dfeb-460a-924f-ae80a3203188-2024-06-17T170000.000Z","Congenital Disorders of Glycosylation","","",""
"DPAGT1","HGNC:2995","https://search.clinicalgenome.org/kb/genes/HGNC:2995","congenital disorder of glycosylation","MONDO:0015286","https://search.clinicalgenome.org/kb/conditions/MONDO:0015286","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2995","Dosage Working Group","","","","","",""
"DPF2","HGNC:9964","https://search.clinicalgenome.org/kb/genes/HGNC:9964","Coffin-Siris syndrome","MONDO:0015452","https://search.clinicalgenome.org/kb/conditions/MONDO:0015452","Autosomal dominant inheritance","","","","","definitive evidence (08/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc8c072e-7b8d-4a94-97fe-c15c91759f0f-2023-08-15T020000.000Z","Intellectual Disability and Autism","","",""
"DPH1","HGNC:3003","https://search.clinicalgenome.org/kb/genes/HGNC:3003","developmental delay with short stature, dysmorphic facial features, and sparse hair","MONDO:0031632","https://search.clinicalgenome.org/kb/conditions/MONDO:0031632","Autosomal recessive inheritance","","","","","definitive evidence (03/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae5e62ab-4531-456b-ae03-44a9ddee5ba0-2024-03-15T160000.000Z","Syndromic Disorders","","",""
"DPM1","HGNC:3005","https://search.clinicalgenome.org/kb/genes/HGNC:3005","congenital disorder of glycosylation type 1E","MONDO:0012123","https://search.clinicalgenome.org/kb/conditions/MONDO:0012123","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3005","Dosage Working Group","definitive evidence (10/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a4d2b7f-1de8-4f6c-8136-b62b62e1c226-2023-10-04T160000.000Z","Congenital Disorders of Glycosylation","","",""
"DPM2","HGNC:3006","https://search.clinicalgenome.org/kb/genes/HGNC:3006","congenital muscular dystrophy with intellectual disability and severe epilepsy","MONDO:0014023","https://search.clinicalgenome.org/kb/conditions/MONDO:0014023","Autosomal recessive inheritance","","","","","moderate evidence (03/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a5c5381-1dba-4c06-803b-4c40f9da85d6-2024-03-20T170000.000Z","Congenital Disorders of Glycosylation","","",""
"DPM3","HGNC:3007","https://search.clinicalgenome.org/kb/genes/HGNC:3007","DPM3-congenital disorder of glycosylation","MONDO:0013049","https://search.clinicalgenome.org/kb/conditions/MONDO:0013049","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/09/2015)","0 - No Evidence for Triplosensitivity (04/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3007","Dosage Working Group","moderate evidence (12/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76bcf111-b22b-4be4-8fe7-870c9744bf44-2023-12-06T170000.000Z","Congenital Disorders of Glycosylation","","",""
"DPP6","HGNC:3010","https://search.clinicalgenome.org/kb/genes/HGNC:3010","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (06/26/2019)","0 - No Evidence for Triplosensitivity (06/26/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3010","Dosage Working Group","disputing (05/05/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T100000.000Z","Intellectual Disability and Autism","","",""
"DPP6","HGNC:3010","https://search.clinicalgenome.org/kb/genes/HGNC:3010","intellectual disability, autosomal dominant 33","MONDO:0014580","https://search.clinicalgenome.org/kb/conditions/MONDO:0014580","N/A","1 - Little Evidence for Haploinsufficiency (06/26/2019)","0 - No Evidence for Triplosensitivity (06/26/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3010","Dosage Working Group","","","","","",""
"DPYD","HGNC:3012","https://search.clinicalgenome.org/kb/genes/HGNC:3012","dihydropyrimidine dehydrogenase deficiency","MONDO:0010130","https://search.clinicalgenome.org/kb/conditions/MONDO:0010130","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (01/24/2018)","0 - No Evidence for Triplosensitivity (01/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3012","Dosage Working Group","","","","","",""
"DPYS","HGNC:3013","https://search.clinicalgenome.org/kb/genes/HGNC:3013","dihydropyrimidinuria","MONDO:0009111","https://search.clinicalgenome.org/kb/conditions/MONDO:0009111","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3013","Dosage Working Group","","","","","",""
"DRC1","HGNC:24245","https://search.clinicalgenome.org/kb/genes/HGNC:24245","primary ciliary dyskinesia 21","MONDO:0014123","https://search.clinicalgenome.org/kb/conditions/MONDO:0014123","Autosomal recessive inheritance","","","","","definitive evidence (03/13/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef37e7a5-e14e-4c71-8231-b01bd636b2b9-2025-03-13T160000.000Z","Motile Ciliopathy GCEP","","",""
"DRC2","HGNC:29937","https://search.clinicalgenome.org/kb/genes/HGNC:29937","primary ciliary dyskinesia 27","MONDO:0014215","https://search.clinicalgenome.org/kb/conditions/MONDO:0014215","Autosomal recessive inheritance","","","","","definitive evidence (08/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_662ab516-ba5f-46aa-97b2-ef4c8f3201a5-2024-08-08T160000.000Z","Motile Ciliopathy GCEP","","",""
"DRC4","HGNC:4166","https://search.clinicalgenome.org/kb/genes/HGNC:4166","primary ciliary dyskinesia 33","MONDO:0014750","https://search.clinicalgenome.org/kb/conditions/MONDO:0014750","Autosomal recessive inheritance","","","","","definitive evidence (11/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d34bf201-5f6d-41c0-842d-5c029823ef60-2024-11-08T050000.000Z","Motile Ciliopathy GCEP","","",""
"DSC2","HGNC:3036","https://search.clinicalgenome.org/kb/genes/HGNC:3036","familial isolated arrhythmogenic right ventricular dysplasia","MONDO:0016342","https://search.clinicalgenome.org/kb/conditions/MONDO:0016342","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (04/24/2024)","0 - No Evidence for Triplosensitivity (04/24/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3036","Dosage Working Group","definitive evidence (09/14/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_74238dee-a847-4f27-9d30-3050c7bf9bf2-2018-09-14T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"DSC2","HGNC:3036","https://search.clinicalgenome.org/kb/genes/HGNC:3036","arrhythmogenic right ventricular dysplasia 11","MONDO:0012506","https://search.clinicalgenome.org/kb/conditions/MONDO:0012506","N/A","1 - Little Evidence for Haploinsufficiency (04/24/2024)","0 - No Evidence for Triplosensitivity (04/24/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3036","Dosage Working Group","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"DSC2","HGNC:3036","https://search.clinicalgenome.org/kb/genes/HGNC:3036","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","N/A","1 - Little Evidence for Haploinsufficiency (04/24/2024)","0 - No Evidence for Triplosensitivity (04/24/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3036","Dosage Working Group","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"DSC3","HGNC:3037","https://search.clinicalgenome.org/kb/genes/HGNC:3037","hereditary hypotrichosis with recurrent skin vesicles","MONDO:0013136","https://search.clinicalgenome.org/kb/conditions/MONDO:0013136","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3037","Dosage Working Group","","","","","",""
"DSCAM","HGNC:3039","https://search.clinicalgenome.org/kb/genes/HGNC:3039","autism spectrum disorder","MONDO:0005258","https://search.clinicalgenome.org/kb/conditions/MONDO:0005258","N/A","2 - Emerging Evidence for Haploinsufficiency (10/10/2023)","0 - No Evidence for Triplosensitivity (10/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3039","Dosage Working Group","","","","","",""
"DSE","HGNC:21144","https://search.clinicalgenome.org/kb/genes/HGNC:21144","Ehlers-Danlos syndrome, musculocontractural type 2","MONDO:0014236","https://search.clinicalgenome.org/kb/conditions/MONDO:0014236","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21144","Dosage Working Group","definitive evidence (09/12/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61c437cd-f914-4205-883f-22fc61126df0-2025-09-12T160000.000Z","Congenital Disorders of Glycosylation","","",""
"DSG2","HGNC:3049","https://search.clinicalgenome.org/kb/genes/HGNC:3049","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","2 - Emerging Evidence for Haploinsufficiency (12/13/2022)","0 - No Evidence for Triplosensitivity (12/13/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3049","Dosage Working Group","definitive evidence (09/14/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f679611d-6e25-45f9-aac3-4a8ad37b1592-2018-09-14T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"DSG2","HGNC:3049","https://search.clinicalgenome.org/kb/genes/HGNC:3049","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","2 - Emerging Evidence for Haploinsufficiency (12/13/2022)","0 - No Evidence for Triplosensitivity (12/13/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3049","Dosage Working Group","limited evidence (03/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7df1018-593f-481f-9dd0-77ce3ea829a6-2025-03-28T160000.000Z","Dilated Cardiomyopathy","","",""
"DSG2","HGNC:3049","https://search.clinicalgenome.org/kb/genes/HGNC:3049","familial isolated arrhythmogenic right ventricular dysplasia","MONDO:0016342","https://search.clinicalgenome.org/kb/conditions/MONDO:0016342","N/A","2 - Emerging Evidence for Haploinsufficiency (12/13/2022)","0 - No Evidence for Triplosensitivity (12/13/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3049","Dosage Working Group","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"DSG2","HGNC:3049","https://search.clinicalgenome.org/kb/genes/HGNC:3049","arrhythmogenic right ventricular dysplasia 10","MONDO:0012434","https://search.clinicalgenome.org/kb/conditions/MONDO:0012434","N/A","2 - Emerging Evidence for Haploinsufficiency (12/13/2022)","0 - No Evidence for Triplosensitivity (12/13/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3049","Dosage Working Group","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"DSG4","HGNC:21307","https://search.clinicalgenome.org/kb/genes/HGNC:21307","hypotrichosis 6","MONDO:0011932","https://search.clinicalgenome.org/kb/conditions/MONDO:0011932","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21307","Dosage Working Group","","","","","",""
"DSP","HGNC:3052","https://search.clinicalgenome.org/kb/genes/HGNC:3052","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/12/2021)","0 - No Evidence for Triplosensitivity (10/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3052","Dosage Working Group","disputing (06/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83a9ea83-5dec-4496-a5d8-9b5fdf9373d7-2022-06-22T160000.000Z","Hereditary Cardiovascular Disease","","",""
"DSP","HGNC:3052","https://search.clinicalgenome.org/kb/genes/HGNC:3052","arrhythmogenic cardiomyopathy with wooly hair and keratoderma","MONDO:0011581","https://search.clinicalgenome.org/kb/conditions/MONDO:0011581","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/12/2021)","0 - No Evidence for Triplosensitivity (10/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3052","Dosage Working Group","definitive evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b23da580-269c-4e5d-8f13-91dbe7ea6a57-2025-05-30T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"DSP","HGNC:3052","https://search.clinicalgenome.org/kb/genes/HGNC:3052","familial isolated arrhythmogenic right ventricular dysplasia","MONDO:0016342","https://search.clinicalgenome.org/kb/conditions/MONDO:0016342","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/12/2021)","0 - No Evidence for Triplosensitivity (10/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3052","Dosage Working Group","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"DSP","HGNC:3052","https://search.clinicalgenome.org/kb/genes/HGNC:3052","arrhythmogenic right ventricular dysplasia 8","MONDO:0011831","https://search.clinicalgenome.org/kb/conditions/MONDO:0011831","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/12/2021)","0 - No Evidence for Triplosensitivity (10/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3052","Dosage Working Group","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"DSP","HGNC:3052","https://search.clinicalgenome.org/kb/genes/HGNC:3052","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/12/2021)","0 - No Evidence for Triplosensitivity (10/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3052","Dosage Working Group","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"DSP","HGNC:3052","https://search.clinicalgenome.org/kb/genes/HGNC:3052","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/12/2021)","0 - No Evidence for Triplosensitivity (10/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3052","Dosage Working Group","","","","","",""
"DSPP","HGNC:3054","https://search.clinicalgenome.org/kb/genes/HGNC:3054","dentinogenesis imperfecta","MONDO:0018849","https://search.clinicalgenome.org/kb/conditions/MONDO:0018849","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/27/2013)","0 - No Evidence for Triplosensitivity (03/27/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3054","Dosage Working Group","definitive evidence (04/17/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39f5492a-97a3-49a6-929d-f24f23b51217-2018-04-17T160000.000Z","Hearing Loss","","",""
"DST","HGNC:1090","https://search.clinicalgenome.org/kb/genes/HGNC:1090","hereditary sensory and autonomic neuropathy type 6","MONDO:0013839","https://search.clinicalgenome.org/kb/conditions/MONDO:0013839","Autosomal recessive inheritance","","","","","definitive evidence (12/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d90c7de8-a72a-4c54-bab8-fe9d4aef0409-2021-12-14T170000.000Z","Charcot-Marie-Tooth","","",""
"DSTYK","HGNC:29043","https://search.clinicalgenome.org/kb/genes/HGNC:29043","complex hereditary spastic paraplegia","MONDO:0015150","https://search.clinicalgenome.org/kb/conditions/MONDO:0015150","Autosomal recessive inheritance","","","","","moderate evidence (09/29/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bbac4423-e313-4694-a7ac-2005164ea832-2023-09-29T023000.000Z","Cerebral Palsy","","",""
"DTNA","HGNC:3057","https://search.clinicalgenome.org/kb/genes/HGNC:3057","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","no known disease relationship (04/04/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cdac9dca-0cc7-4cca-9af7-d2767d917fd4-2025-04-04T160000.000Z","Dilated Cardiomyopathy","","",""
"DTNA","HGNC:3057","https://search.clinicalgenome.org/kb/genes/HGNC:3057","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (02/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd37e3a0-bb02-4450-86c5-46e9c64d1d39-2024-02-06T170000.000Z","Congenital Heart Disease","","",""
"DTNBP1","HGNC:17328","https://search.clinicalgenome.org/kb/genes/HGNC:17328","Hermansky-Pudlak syndrome 7","MONDO:0013559","https://search.clinicalgenome.org/kb/conditions/MONDO:0013559","Autosomal recessive inheritance","","","","","definitive evidence (02/24/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_785a39b1-9c7b-4745-94b6-be6a9376ac97-2021-02-24T170000.000Z","Hemostasis Thrombosis","","",""
"DYM","HGNC:21317","https://search.clinicalgenome.org/kb/genes/HGNC:21317","spondyloepiphyseal dysplasia","MONDO:0016761","https://search.clinicalgenome.org/kb/conditions/MONDO:0016761","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (02/23/2012)","0 - No Evidence for Triplosensitivity (02/23/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21317","Dosage Working Group","","","","","",""
"DYNC1H1","HGNC:2961","https://search.clinicalgenome.org/kb/genes/HGNC:2961","obsolete neuronopathy, distal hereditary motor","MONDO:0000075","https://search.clinicalgenome.org/kb/conditions/MONDO:0000075","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/14/2023)","0 - No Evidence for Triplosensitivity (11/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2961","Dosage Working Group","definitive evidence (07/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1e12eb9-aea0-4597-8893-48df533f6ad9-2023-07-12T160000.000Z","Charcot-Marie-Tooth","","",""
"DYNC1H1","HGNC:2961","https://search.clinicalgenome.org/kb/genes/HGNC:2961","distal hereditary motor neuropathy","MONDO:0018894","https://search.clinicalgenome.org/kb/conditions/MONDO:0018894","N/A","0 - No Evidence for Haploinsufficiency (11/14/2023)","0 - No Evidence for Triplosensitivity (11/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2961","Dosage Working Group","","","","","",""
"DYNC2H1","HGNC:2962","https://search.clinicalgenome.org/kb/genes/HGNC:2962","asphyxiating thoracic dystrophy 3","MONDO:0013127","https://search.clinicalgenome.org/kb/conditions/MONDO:0013127","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2962","Dosage Working Group","definitive evidence (11/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27b3d450-9f9a-4ca4-aef0-23a99ce79773-2024-11-06T170000.000Z","Skeletal Disorders","","",""
"DYNC2I1","HGNC:21862","https://search.clinicalgenome.org/kb/genes/HGNC:21862","short-rib thoracic dysplasia 8 with or without polydactyly","MONDO:0014214","https://search.clinicalgenome.org/kb/conditions/MONDO:0014214","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21862","Dosage Working Group","definitive evidence (09/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad85ec94-69a9-4e67-a366-5ec2d574f1e4-2024-09-04T160000.000Z","Skeletal Disorders","","",""
"DYNC2I2","HGNC:28296","https://search.clinicalgenome.org/kb/genes/HGNC:28296","short-rib thoracic dysplasia 11 with or without polydactyly","MONDO:0014287","https://search.clinicalgenome.org/kb/conditions/MONDO:0014287","Autosomal recessive inheritance","","","","","definitive evidence (02/03/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7dc00865-a061-41ff-94ef-5eb6c1d1a1ef-2025-02-03T170000.000Z","Skeletal Disorders","","",""
"DYRK1A","HGNC:3091","https://search.clinicalgenome.org/kb/genes/HGNC:3091","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/16/2020)","0 - No Evidence for Triplosensitivity (12/16/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3091","Dosage Working Group","definitive evidence (07/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b336707e-f3a5-4554-9b37-0d29621b3562-2020-07-15T195802.528Z","Intellectual Disability and Autism","","",""
"DYRK1A","HGNC:3091","https://search.clinicalgenome.org/kb/genes/HGNC:3091","DYRK1A-related intellectual disability syndrome","MONDO:0013578","https://search.clinicalgenome.org/kb/conditions/MONDO:0013578","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/16/2020)","0 - No Evidence for Triplosensitivity (12/16/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3091","Dosage Working Group","","","","","",""
"DYSF","HGNC:3097","https://search.clinicalgenome.org/kb/genes/HGNC:3097","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","","","","","definitive evidence (11/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94042756-2e7a-4cfa-812c-1b88b703eeea-2024-11-14T170000.000Z","Muscular Dystrophies and Myopathies","","",""
"DZIP1L","HGNC:26551","https://search.clinicalgenome.org/kb/genes/HGNC:26551","autosomal recessive polycystic kidney disease","MONDO:0009889","https://search.clinicalgenome.org/kb/conditions/MONDO:0009889","Autosomal recessive inheritance","","","","","definitive evidence (03/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1e2d1d2-b77c-4f1a-b185-31e3a95aae9b-2024-03-29T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"EARS2","HGNC:29419","https://search.clinicalgenome.org/kb/genes/HGNC:29419","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29419","Dosage Working Group","definitive evidence (03/19/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_774e378c-2636-41ad-be48-a2c00328ab9c-2020-03-19T190729.531Z","Mitochondrial Diseases","","",""
"EARS2","HGNC:29419","https://search.clinicalgenome.org/kb/genes/HGNC:29419","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29419","Dosage Working Group","definitive evidence (09/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f85a9564-c49e-49f7-abd3-f3f022c9211a-2024-09-19T040000.000Z","Mitochondrial Diseases","","",""
"EARS2","HGNC:29419","https://search.clinicalgenome.org/kb/genes/HGNC:29419","leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome","MONDO:0013971","https://search.clinicalgenome.org/kb/conditions/MONDO:0013971","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29419","Dosage Working Group","","","","","",""
"EBF3","HGNC:19087","https://search.clinicalgenome.org/kb/genes/HGNC:19087","hypotonia, ataxia, and delayed development syndrome","MONDO:0015021","https://search.clinicalgenome.org/kb/conditions/MONDO:0015021","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/06/2023)","0 - No Evidence for Triplosensitivity (12/06/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19087","Dosage Working Group","definitive evidence (05/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c194cac3-00f5-44b5-9993-64cf7aca9cf4-2023-05-16T160000.000Z","Intellectual Disability and Autism","","",""
"EBP","HGNC:3133","https://search.clinicalgenome.org/kb/genes/HGNC:3133","MEND syndrome","MONDO:0010498","https://search.clinicalgenome.org/kb/conditions/MONDO:0010498","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/22/2020)","0 - No Evidence for Triplosensitivity (01/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3133","Dosage Working Group","definitive evidence (09/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21e97c32-52ae-4331-8788-64d652f20af3-2022-09-07T180000.000Z","Intellectual Disability and Autism","","",""
"EBP","HGNC:3133","https://search.clinicalgenome.org/kb/genes/HGNC:3133","X-linked chondrodysplasia punctata 2","MONDO:0020603","https://search.clinicalgenome.org/kb/conditions/MONDO:0020603","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/22/2020)","0 - No Evidence for Triplosensitivity (01/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3133","Dosage Working Group","","","","","",""
"ECHS1","HGNC:3151","https://search.clinicalgenome.org/kb/genes/HGNC:3151","mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency","MONDO:0014563","https://search.clinicalgenome.org/kb/conditions/MONDO:0014563","Autosomal recessive inheritance","","","","","definitive evidence (10/09/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dad38816-be17-4d59-bbfd-3e79221911a4-2018-10-09T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"ECHS1","HGNC:3151","https://search.clinicalgenome.org/kb/genes/HGNC:3151","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","definitive evidence (04/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d443f3c-fe02-4104-9e92-ca1c73b85a81-2021-04-09T142601.823Z","Mitochondrial Diseases","","",""
"EDA","HGNC:3157","https://search.clinicalgenome.org/kb/genes/HGNC:3157","X-linked hypohidrotic ectodermal dysplasia","MONDO:0010585","https://search.clinicalgenome.org/kb/conditions/MONDO:0010585","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/25/2023)","0 - No Evidence for Triplosensitivity (01/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3157","Dosage Working Group","","","","","",""
"EDEM3","HGNC:16787","https://search.clinicalgenome.org/kb/genes/HGNC:16787","congenital disorder of glycosylation, type 2v","MONDO:0030423","https://search.clinicalgenome.org/kb/conditions/MONDO:0030423","Autosomal recessive inheritance","","","","","strong evidence (04/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae5cd89b-84f1-4ae4-a647-72732d87d7f4-2024-04-04T160000.000Z","Congenital Disorders of Glycosylation","","",""
"EDN3","HGNC:3178","https://search.clinicalgenome.org/kb/genes/HGNC:3178","Waardenburg syndrome type 4B","MONDO:0013201","https://search.clinicalgenome.org/kb/conditions/MONDO:0013201","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","limited evidence (05/08/2018) | moderate evidence (06/29/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04e39ada-cd77-43f0-98f3-7b4a37668a96-2018-05-08T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f88c34c-a093-4fc8-b84a-49c7d2dd327f-2023-06-29T160000.000Z","Hearing Loss | Hearing Loss","","",""
"EDNRB","HGNC:3180","https://search.clinicalgenome.org/kb/genes/HGNC:3180","Waardenburg syndrome type 4A","MONDO:0010192","https://search.clinicalgenome.org/kb/conditions/MONDO:0010192","Autosomal dominant inheritance | Autosomal recessive inheritance","1 - Little Evidence for Haploinsufficiency (02/07/2022)","0 - No Evidence for Triplosensitivity (02/07/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3180","Dosage Working Group","limited evidence (05/08/2018) | moderate evidence (06/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73ee9727-60c1-40fd-830f-08c2b513d2ee-2018-05-08T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d7abbd45-7915-437b-849b-dea876bfc2f5-2023-06-27T160000.000Z","Hearing Loss | Hearing Loss","","",""
"EED","HGNC:3188","https://search.clinicalgenome.org/kb/genes/HGNC:3188","Cohen-Gibson syndrome","MONDO:0060510","https://search.clinicalgenome.org/kb/conditions/MONDO:0060510","Autosomal dominant inheritance","","","","","moderate evidence (12/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44531e19-7957-424f-81e9-fc455095f14a-2022-12-05T230000.000Z","Intellectual Disability and Autism","","",""
"EEF1A2","HGNC:3192","https://search.clinicalgenome.org/kb/genes/HGNC:3192","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (06/13/2023)","0 - No Evidence for Triplosensitivity (06/13/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3192","Dosage Working Group","definitive evidence (03/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17551147-b62c-47a9-a12a-f425c23d90ff-2019-03-19T160000.000Z","Epilepsy","","",""
"EFEMP1","HGNC:3218","https://search.clinicalgenome.org/kb/genes/HGNC:3218","Doyne honeycomb retinal dystrophy","MONDO:0007471","https://search.clinicalgenome.org/kb/conditions/MONDO:0007471","Autosomal dominant inheritance","","","","","definitive evidence (08/05/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2859008e-eeb1-4af4-8a6e-1bf5372bb3ab-2021-08-05T160000.000Z","Retina","","",""
"EFEMP1","HGNC:3218","https://search.clinicalgenome.org/kb/genes/HGNC:3218","open-angle glaucoma","MONDO:0005338","https://search.clinicalgenome.org/kb/conditions/MONDO:0005338","Autosomal dominant inheritance","","","","","moderate evidence (12/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0363f777-b1d5-4c74-bee3-0bd783cf1db2-2024-12-19T170000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"EFEMP2","HGNC:3219","https://search.clinicalgenome.org/kb/genes/HGNC:3219","cutis laxa, autosomal recessive, type 1B","MONDO:0013754","https://search.clinicalgenome.org/kb/conditions/MONDO:0013754","Autosomal recessive inheritance","","","","","definitive evidence (08/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8911130f-a1fc-4404-8905-5632a49a95fe-2024-08-23T160000.000Z","Hereditary Cardiovascular Disease","","",""
"EFHC1","HGNC:16406","https://search.clinicalgenome.org/kb/genes/HGNC:16406","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","","","","","refuting evidence (09/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2338bd8-c9ea-464b-8281-84472771a657-2023-09-05T070000.000Z","Epilepsy","","",""
"EFL1","HGNC:25789","https://search.clinicalgenome.org/kb/genes/HGNC:25789","Shwachman-Diamond syndrome","MONDO:0009833","https://search.clinicalgenome.org/kb/conditions/MONDO:0009833","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (04/13/2022)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25789","Dosage Working Group","","","","","",""
"EFNB1","HGNC:3226","https://search.clinicalgenome.org/kb/genes/HGNC:3226","craniofrontonasal syndrome","MONDO:0010570","https://search.clinicalgenome.org/kb/conditions/MONDO:0010570","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/13/2025)","1 - Little Evidence for Triplosensitivity (05/13/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3226","Dosage Working Group","definitive evidence (10/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31ffbd0b-5c6b-4396-a84c-9330d81e4a08-2020-10-26T154650.453Z","Craniofacial Malformations","","",""
"EFTUD2","HGNC:30858","https://search.clinicalgenome.org/kb/genes/HGNC:30858","mandibulofacial dysostosis-microcephaly syndrome","MONDO:0012516","https://search.clinicalgenome.org/kb/conditions/MONDO:0012516","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/23/2013)","0 - No Evidence for Triplosensitivity (05/23/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30858","Dosage Working Group","definitive evidence (07/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66012775-240c-4640-ac66-12647021eee5-2022-07-20T160000.000Z","Intellectual Disability and Autism","","",""
"EGF","HGNC:3229","https://search.clinicalgenome.org/kb/genes/HGNC:3229","renal hypomagnesemia 4","MONDO:0012717","https://search.clinicalgenome.org/kb/conditions/MONDO:0012717","Autosomal recessive inheritance","","","","","limited evidence (10/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5289e69-e046-4a70-bd8a-3b44ebf73c8d-2023-10-19T180000.000Z","Tubulopathy","","",""
"EGFR","HGNC:3236","https://search.clinicalgenome.org/kb/genes/HGNC:3236","non-small cell lung carcinoma","MONDO:0005233","https://search.clinicalgenome.org/kb/conditions/MONDO:0005233","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (05/11/2022)","0 - No Evidence for Triplosensitivity (05/11/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3236","Dosage Working Group","definitive evidence (07/30/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49342c73-96d7-45ba-9c90-d2d5e5710636-2020-07-30T202207.418Z","Hereditary Cancer","","",""
"EGR2","HGNC:3239","https://search.clinicalgenome.org/kb/genes/HGNC:3239","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Semidominant inheritance","0 - No Evidence for Haploinsufficiency (11/28/2011)","0 - No Evidence for Triplosensitivity (11/28/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3239","Dosage Working Group","definitive evidence (11/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6e83e27-0c9a-4475-92f5-745303931858-2021-11-17T033516.468Z","Charcot-Marie-Tooth","","",""
"EGR2","HGNC:3239","https://search.clinicalgenome.org/kb/genes/HGNC:3239","Charcot-Marie-Tooth disease type 1D","MONDO:0011890","https://search.clinicalgenome.org/kb/conditions/MONDO:0011890","N/A","0 - No Evidence for Haploinsufficiency (11/28/2011)","0 - No Evidence for Triplosensitivity (11/28/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3239","Dosage Working Group","","","","Limited Actionability (03/19/2024) | Moderate Actionability (03/19/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC129 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC129"," | "
"EGR2","HGNC:3239","https://search.clinicalgenome.org/kb/genes/HGNC:3239","Charcot-Marie-Tooth disease type 1","MONDO:0019011","https://search.clinicalgenome.org/kb/conditions/MONDO:0019011","N/A","0 - No Evidence for Haploinsufficiency (11/28/2011)","0 - No Evidence for Triplosensitivity (11/28/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3239","Dosage Working Group","","","","Limited Actionability (03/19/2024) | Moderate Actionability (03/19/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC129 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC129"," | "
"EHHADH","HGNC:3247","https://search.clinicalgenome.org/kb/genes/HGNC:3247","Fanconi renotubular syndrome 3","MONDO:0014275","https://search.clinicalgenome.org/kb/conditions/MONDO:0014275","Autosomal dominant inheritance","","","","","limited evidence (03/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f938d7bc-f717-438c-bc27-962ba62dde93-2023-03-03T170000.000Z","Peroxisomal Disorders","","",""
"EHMT1","HGNC:24650","https://search.clinicalgenome.org/kb/genes/HGNC:24650","Kleefstra syndrome","MONDO:0012455","https://search.clinicalgenome.org/kb/conditions/MONDO:0012455","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","1 - Little Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24650","Dosage Working Group","definitive evidence (06/06/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db91a861-6a88-4848-b6d5-4772bdef52ff-2018-06-06T100000.000Z","Intellectual Disability and Autism","","",""
"EHMT1","HGNC:24650","https://search.clinicalgenome.org/kb/genes/HGNC:24650","Kleefstra syndrome 1","MONDO:0027407","https://search.clinicalgenome.org/kb/conditions/MONDO:0027407","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","1 - Little Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24650","Dosage Working Group","","","","","",""
"EIF2AK3","HGNC:3255","https://search.clinicalgenome.org/kb/genes/HGNC:3255","Wolcott-Rallison syndrome","MONDO:0009192","https://search.clinicalgenome.org/kb/conditions/MONDO:0009192","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3255","Dosage Working Group","","","","","",""
"EIF2AK4","HGNC:19687","https://search.clinicalgenome.org/kb/genes/HGNC:19687","pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis","MONDO:0018554","https://search.clinicalgenome.org/kb/conditions/MONDO:0018554","Autosomal recessive inheritance","","","","","definitive evidence (12/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9d20386c-ad1a-4c88-9f43-4ca3cedbfd6f-2022-12-02T170000.000Z","Pulmonary Hypertension","","",""
"EIF2B1","HGNC:3257","https://search.clinicalgenome.org/kb/genes/HGNC:3257","leukoencephalopathy with vanishing white matter 1","MONDO:0020507","https://search.clinicalgenome.org/kb/conditions/MONDO:0020507","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3257","Dosage Working Group","definitive evidence (02/05/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35e2ff63-0a4f-4425-9330-cc70fbe9954d-2025-02-05T170000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"EIF2B1","HGNC:3257","https://search.clinicalgenome.org/kb/genes/HGNC:3257","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3257","Dosage Working Group","","","","","",""
"EIF2B2","HGNC:3258","https://search.clinicalgenome.org/kb/genes/HGNC:3258","leukoencephalopathy with vanishing white matter 2","MONDO:0957870","https://search.clinicalgenome.org/kb/conditions/MONDO:0957870","Autosomal recessive inheritance","","","","","definitive evidence (12/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_875faedd-30bd-4e6d-803f-6244a04f37a5-2024-12-11T170000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"EIF2B3","HGNC:3259","https://search.clinicalgenome.org/kb/genes/HGNC:3259","leukoencephalopathy with vanishing white matter 3","MONDO:0957871","https://search.clinicalgenome.org/kb/conditions/MONDO:0957871","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3259","Dosage Working Group","definitive evidence (12/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e68c2029-c69e-4874-a072-bf86ca148cdd-2024-12-11T170000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"EIF2B3","HGNC:3259","https://search.clinicalgenome.org/kb/genes/HGNC:3259","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3259","Dosage Working Group","","","","","",""
"EIF2B4","HGNC:3260","https://search.clinicalgenome.org/kb/genes/HGNC:3260","leukoencephalopathy with vanishing white matter 4","MONDO:0957872","https://search.clinicalgenome.org/kb/conditions/MONDO:0957872","Autosomal recessive inheritance","","","","","definitive evidence (12/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a3c95d30-0045-4bf9-8529-3c701bb1eab5-2024-12-11T170000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"EIF2B5","HGNC:3261","https://search.clinicalgenome.org/kb/genes/HGNC:3261","leukoencephalopathy with vanishing white matter 5","MONDO:0957873","https://search.clinicalgenome.org/kb/conditions/MONDO:0957873","Autosomal recessive inheritance","","","","","definitive evidence (12/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6cf3226-04b0-4709-bc55-b97ca4bea8d7-2024-12-11T170000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"EIF2S3","HGNC:3267","https://search.clinicalgenome.org/kb/genes/HGNC:3267","MEHMO syndrome","MONDO:0010258","https://search.clinicalgenome.org/kb/conditions/MONDO:0010258","Autosomal dominant inheritance","","","","","definitive evidence (11/11/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb96fe11-dd31-47b2-820d-9071035ec7b0-2021-11-11T170000.000Z","Intellectual Disability and Autism","","",""
"EIF3F","HGNC:3275","https://search.clinicalgenome.org/kb/genes/HGNC:3275","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal recessive inheritance","","","","","definitive evidence (12/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0f623e7-ea96-461a-a348-7aa5a7a1d7ff-2023-12-06T070000.000Z","Intellectual Disability and Autism","","",""
"EIF4A3","HGNC:18683","https://search.clinicalgenome.org/kb/genes/HGNC:18683","Richieri Costa-Pereira syndrome","MONDO:0009998","https://search.clinicalgenome.org/kb/conditions/MONDO:0009998","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18683","Dosage Working Group","","","","","",""
"ELAC2","HGNC:14198","https://search.clinicalgenome.org/kb/genes/HGNC:14198","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (07/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff57f761-51cd-41aa-a287-7387e0f5f028-2022-07-21T040000.000Z","Mitochondrial Diseases","","",""
"ELANE","HGNC:3309","https://search.clinicalgenome.org/kb/genes/HGNC:3309","neutropenia","MONDO:0001475","https://search.clinicalgenome.org/kb/conditions/MONDO:0001475","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (07/13/2022)","0 - No Evidence for Triplosensitivity (07/13/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3309","Dosage Working Group","definitive evidence (05/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_259c43d2-b114-43bd-9e4e-a7beeb644323-2020-05-14T000924.456Z","Hereditary Cancer","","",""
"ELANE","HGNC:3309","https://search.clinicalgenome.org/kb/genes/HGNC:3309","severe congenital neutropenia","MONDO:0018542","https://search.clinicalgenome.org/kb/conditions/MONDO:0018542","N/A","1 - Little Evidence for Haploinsufficiency (07/13/2022)","0 - No Evidence for Triplosensitivity (07/13/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3309","Dosage Working Group","","","","","",""
"ELAVL2","HGNC:3313","https://search.clinicalgenome.org/kb/genes/HGNC:3313","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (11/28/2018)","0 - No Evidence for Triplosensitivity (11/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3313","Dosage Working Group","","","","","",""
"ELF4","HGNC:3319","https://search.clinicalgenome.org/kb/genes/HGNC:3319","autoinflammatory syndrome, familial, X-linked, Behcet-like 2","MONDO:0024770","https://search.clinicalgenome.org/kb/conditions/MONDO:0024770","X-linked inheritance","","","","","definitive evidence (06/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_625f18f6-e14f-457b-9134-a2b1aeedc410-2025-06-25T160000.000Z","Primary Immune Regulatory Disorders","","",""
"ELMOD3","HGNC:26158","https://search.clinicalgenome.org/kb/genes/HGNC:26158","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance | Autosomal dominant inheritance","","","","","limited evidence (11/17/2021) | limited evidence (11/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95f5efe3-e0d1-4cef-b475-7ff1cd3c417c-2021-11-17T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86999665-43b6-4824-b5e5-81b2a6dd8034-2021-11-17T170000.000Z","Hearing Loss | Hearing Loss","","",""
"ELN","HGNC:3327","https://search.clinicalgenome.org/kb/genes/HGNC:3327","cutis laxa, autosomal dominant 1","MONDO:0007411","https://search.clinicalgenome.org/kb/conditions/MONDO:0007411","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/10/2012)","0 - No Evidence for Triplosensitivity (07/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3327","Dosage Working Group","definitive evidence (10/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bfdc253-320e-4c03-959f-57348fe403fd-2024-10-04T160000.000Z","Hereditary Cardiovascular Disease","","",""
"ELN","HGNC:3327","https://search.clinicalgenome.org/kb/genes/HGNC:3327","supravalvular aortic stenosis","MONDO:0008504","https://search.clinicalgenome.org/kb/conditions/MONDO:0008504","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/10/2012)","0 - No Evidence for Triplosensitivity (07/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3327","Dosage Working Group","","","","","",""
"ELOVL4","HGNC:14415","https://search.clinicalgenome.org/kb/genes/HGNC:14415","ELOVL4-related maculopathy","MONDO:0700227","https://search.clinicalgenome.org/kb/conditions/MONDO:0700227","Autosomal dominant inheritance","","","","","definitive evidence (02/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b9daf74-594d-4f11-b322-d671266ebf8e-2023-02-02T170000.000Z","Retina","","",""
"ELP4","HGNC:1171","https://search.clinicalgenome.org/kb/genes/HGNC:1171","ocular dysgenesis caused by defects in PAX6 regulation","MONDO:0700246","https://search.clinicalgenome.org/kb/conditions/MONDO:0700246","Autosomal dominant inheritance","","","","","moderate evidence (11/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_095db206-85a6-491a-929c-bb4db8d1240a-2023-11-16T170000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"EMC1","HGNC:28957","https://search.clinicalgenome.org/kb/genes/HGNC:28957","complex neurodevelopmental disorder with motor features","MONDO:0100516","https://search.clinicalgenome.org/kb/conditions/MONDO:0100516","Autosomal recessive inheritance | Autosomal dominant inheritance","","","","","moderate evidence (11/03/2022) | moderate evidence (10/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_659c7312-5d0a-44d0-9bd0-3e2b2ba385ce-2022-11-03T013000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab319081-d3bf-436a-af1e-fce77cf8837a-2022-10-06T013000.000Z","Cerebral Palsy | Cerebral Palsy","","",""
"EMD","HGNC:3331","https://search.clinicalgenome.org/kb/genes/HGNC:3331","Emery-Dreifuss muscular dystrophy","MONDO:0016830","https://search.clinicalgenome.org/kb/conditions/MONDO:0016830","N/A","","","","","","","","Limited Actionability (07/13/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC143",""
"EMD","HGNC:3331","https://search.clinicalgenome.org/kb/genes/HGNC:3331","X-linked Emery-Dreifuss muscular dystrophy","MONDO:0010680","https://search.clinicalgenome.org/kb/conditions/MONDO:0010680","N/A","","","","","","","","Limited Actionability (07/13/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC143",""
"EMG1","HGNC:16912","https://search.clinicalgenome.org/kb/genes/HGNC:16912","Bowen-Conradi syndrome","MONDO:0008879","https://search.clinicalgenome.org/kb/conditions/MONDO:0008879","Autosomal recessive inheritance","","","","","strong evidence (05/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c60e824f-3e52-4e94-9181-d9f7290f6023-2025-05-16T160000.000Z","Syndromic Disorders","","",""
"EML1","HGNC:3330","https://search.clinicalgenome.org/kb/genes/HGNC:3330","band heterotopia of brain","MONDO:0010873","https://search.clinicalgenome.org/kb/conditions/MONDO:0010873","Autosomal recessive inheritance","","","","","definitive evidence (05/27/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3938ad35-9bf2-4b80-b910-05a2a1e6b6bf-2025-05-27T170000.000Z","Brain Malformations","","",""
"EMX2","HGNC:3341","https://search.clinicalgenome.org/kb/genes/HGNC:3341","schizencephaly","MONDO:0010011","https://search.clinicalgenome.org/kb/conditions/MONDO:0010011","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (11/09/2021)","0 - No Evidence for Triplosensitivity (11/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3341","Dosage Working Group","limited evidence (09/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9ab9956b-42de-4772-a3bb-8508ea6d1349-2024-09-03T160000.000Z","Epilepsy","","",""
"EN2","HGNC:3343","https://search.clinicalgenome.org/kb/genes/HGNC:3343","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (08/26/2012)","0 - No Evidence for Triplosensitivity (08/26/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3343","Dosage Working Group","disputing (02/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91eb2fc6-864c-4a4a-9b2d-0b2bdd695999-2021-02-16T170000.000Z","Intellectual Disability and Autism","","",""
"ENG","HGNC:3349","https://search.clinicalgenome.org/kb/genes/HGNC:3349","telangiectasia, hereditary hemorrhagic, type 1","MONDO:0008535","https://search.clinicalgenome.org/kb/conditions/MONDO:0008535","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/11/2024)","0 - No Evidence for Triplosensitivity (01/11/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3349","Dosage Working Group","definitive evidence (12/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4d13b4a-f97b-45d0-9b82-07bcb6685a0a-2022-12-05T170000.000Z","Hemostasis Thrombosis","Moderate Actionability (08/26/2022) | Strong Actionability (08/26/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC107 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC107"," | "
"ENG","HGNC:3349","https://search.clinicalgenome.org/kb/genes/HGNC:3349","juvenile polyposis syndrome","MONDO:0017380","https://search.clinicalgenome.org/kb/conditions/MONDO:0017380","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/11/2024)","0 - No Evidence for Triplosensitivity (01/11/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3349","Dosage Working Group","limited evidence (12/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08c5b377-a2a1-44ac-9b7e-dc2141ee7a04-2022-12-30T180000.000Z","Hereditary Cancer","","",""
"ENG","HGNC:3349","https://search.clinicalgenome.org/kb/genes/HGNC:3349","hereditary hemorrhagic telangiectasia","MONDO:0019180","https://search.clinicalgenome.org/kb/conditions/MONDO:0019180","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/11/2024)","0 - No Evidence for Triplosensitivity (01/11/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3349","Dosage Working Group","","","","Moderate Actionability (08/26/2022) | Strong Actionability (08/26/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC107 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC107"," | "
"ENO3","HGNC:3354","https://search.clinicalgenome.org/kb/genes/HGNC:3354","glycogen storage disease due to muscle beta-enolase deficiency","MONDO:0013046","https://search.clinicalgenome.org/kb/conditions/MONDO:0013046","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3354","Dosage Working Group","","","","","",""
"ENPP1","HGNC:3356","https://search.clinicalgenome.org/kb/genes/HGNC:3356","hypopigmentation-punctate palmoplantar keratoderma syndrome","MONDO:0014227","https://search.clinicalgenome.org/kb/conditions/MONDO:0014227","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3356","Dosage Working Group","limited evidence (06/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed97faaf-d5ce-4da2-8367-b6fb51a57cbf-2022-06-17T040000.000Z","Syndromic Disorders","","",""
"ENPP1","HGNC:3356","https://search.clinicalgenome.org/kb/genes/HGNC:3356","arterial calcification, generalized, of infancy, 1","MONDO:0008817","https://search.clinicalgenome.org/kb/conditions/MONDO:0008817","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3356","Dosage Working Group","definitive evidence (06/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50cf1e96-1629-41c5-a5db-1c37e8b24aaa-2022-06-17T040000.000Z","Syndromic Disorders","","",""
"ENPP1","HGNC:3356","https://search.clinicalgenome.org/kb/genes/HGNC:3356","hypophosphatemic rickets, autosomal recessive, 2","MONDO:0013219","https://search.clinicalgenome.org/kb/conditions/MONDO:0013219","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3356","Dosage Working Group","","","","","",""
"ENTPD1","HGNC:3363","https://search.clinicalgenome.org/kb/genes/HGNC:3363","complex hereditary spastic paraplegia","MONDO:0015150","https://search.clinicalgenome.org/kb/conditions/MONDO:0015150","Autosomal recessive inheritance","","","","","definitive evidence (05/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8634ea9c-3fce-4d72-94e9-2ac6756e5cb6-2023-05-06T023000.000Z","Cerebral Palsy","","",""
"EP300","HGNC:3373","https://search.clinicalgenome.org/kb/genes/HGNC:3373","Rubinstein-Taybi syndrome due to EP300 haploinsufficiency","MONDO:0013364","https://search.clinicalgenome.org/kb/conditions/MONDO:0013364","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/14/2013)","0 - No Evidence for Triplosensitivity (03/14/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3373","Dosage Working Group","definitive evidence (05/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5559f540-f08e-4446-bc8b-a241bb3a4a8e-2022-05-20T044017.803Z","Syndromic Disorders","","",""
"EPB41L1","HGNC:3378","https://search.clinicalgenome.org/kb/genes/HGNC:3378","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","limited evidence (07/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3be1f426-ad87-4540-9582-a9dcf96ffddd-2022-07-06T160000.000Z","Intellectual Disability and Autism","","",""
"EPB42","HGNC:3381","https://search.clinicalgenome.org/kb/genes/HGNC:3381","hereditary spherocytosis type 5","MONDO:0012985","https://search.clinicalgenome.org/kb/conditions/MONDO:0012985","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3381","Dosage Working Group","","","","","",""
"EPCAM","HGNC:11529","https://search.clinicalgenome.org/kb/genes/HGNC:11529","Lynch syndrome","MONDO:0005835","https://search.clinicalgenome.org/kb/conditions/MONDO:0005835","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/08/2019)","0 - No Evidence for Triplosensitivity (10/08/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11529","Dosage Working Group","definitive evidence (06/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c071c7e-ba5c-46c7-b46b-fee6acf3a43f-2022-06-20T170000.000Z","Hereditary Cancer","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021) | Definitive Actionability (02/11/2015)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC069 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC069"," | "
"EPCAM","HGNC:11529","https://search.clinicalgenome.org/kb/genes/HGNC:11529","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/08/2019)","0 - No Evidence for Triplosensitivity (10/08/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11529","Dosage Working Group","refuting evidence (12/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_efe1b152-d818-49bd-9f6f-cebe944b3404-2023-12-21T180000.000Z","Hereditary Cancer","","",""
"EPCAM","HGNC:11529","https://search.clinicalgenome.org/kb/genes/HGNC:11529","Lynch syndrome 8","MONDO:0013196","https://search.clinicalgenome.org/kb/conditions/MONDO:0013196","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (10/08/2019)","0 - No Evidence for Triplosensitivity (10/08/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11529","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021) | Definitive Actionability (02/11/2015)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC069 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC069"," | "
"EPCAM","HGNC:11529","https://search.clinicalgenome.org/kb/genes/HGNC:11529","congenital diarrhea 5 with tufting enteropathy","MONDO:0013184","https://search.clinicalgenome.org/kb/conditions/MONDO:0013184","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (10/08/2019)","0 - No Evidence for Triplosensitivity (10/08/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11529","Dosage Working Group","","","","","",""
"EPG5","HGNC:29331","https://search.clinicalgenome.org/kb/genes/HGNC:29331","Vici syndrome","MONDO:0009452","https://search.clinicalgenome.org/kb/conditions/MONDO:0009452","Autosomal recessive inheritance","","","","","definitive evidence (06/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9a6ae5b4-2fa4-44aa-92e1-49997f6c9a87-2024-06-07T170000.000Z","SCID-CID","","",""
"EPHB2","HGNC:3393","https://search.clinicalgenome.org/kb/genes/HGNC:3393","bleeding disorder, platelet-type, 22","MONDO:0032765","https://search.clinicalgenome.org/kb/conditions/MONDO:0032765","Autosomal recessive inheritance","","","","","limited evidence (09/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f895977-6c0c-49f1-97b6-cf4d0fd3a894-2024-09-04T170000.000Z","Hemostasis Thrombosis","","",""
"EPHB4","HGNC:3395","https://search.clinicalgenome.org/kb/genes/HGNC:3395","EPHB4-associated vascular malformation spectrum","MONDO:0700080","https://search.clinicalgenome.org/kb/conditions/MONDO:0700080","Autosomal dominant inheritance","","","","","definitive evidence (11/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1a3438a-72a7-41f7-b140-2041ea7a39c1-2022-11-03T160000.000Z","Prenatal","","",""
"EPHX1","HGNC:3401","https://search.clinicalgenome.org/kb/genes/HGNC:3401","hereditary nonpolyposis colon cancer","MONDO:0018630","https://search.clinicalgenome.org/kb/conditions/MONDO:0018630","Autosomal dominant inheritance","","","","","limited evidence (11/08/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8431","Colon Cancer","","",""
"EPM2A","HGNC:3413","https://search.clinicalgenome.org/kb/genes/HGNC:3413","Lafora disease","MONDO:0009697","https://search.clinicalgenome.org/kb/conditions/MONDO:0009697","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3413","Dosage Working Group","definitive evidence (05/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f970ced6-0164-41ed-9e1f-1fb9f892bca6-2020-05-23T190000.000Z","Epilepsy","","",""
"EPS8","HGNC:3420","https://search.clinicalgenome.org/kb/genes/HGNC:3420","autosomal recessive nonsyndromic hearing loss 102","MONDO:0014428","https://search.clinicalgenome.org/kb/conditions/MONDO:0014428","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/07/2018)","0 - No Evidence for Triplosensitivity (02/07/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3420","Dosage Working Group","moderate evidence (02/06/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a6bd2bf-8ede-45cb-a1c1-65ee5221b440-2020-02-06T171614.553Z","Hearing Loss","","",""
"EPS8L2","HGNC:21296","https://search.clinicalgenome.org/kb/genes/HGNC:21296","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","moderate evidence (02/05/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0022ad7-8497-4139-94a7-2546ba482c88-2020-02-05T170000.000Z","Hearing Loss","","",""
"ERBB4","HGNC:3432","https://search.clinicalgenome.org/kb/genes/HGNC:3432","amyotrophic lateral sclerosis type 19","MONDO:0014223","https://search.clinicalgenome.org/kb/conditions/MONDO:0014223","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (10/23/2024)","0 - No Evidence for Triplosensitivity (10/23/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3432","Dosage Working Group","limited evidence (09/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fdd26ab6-0c1f-4322-9f70-cad651bb789f-2021-09-30T143144.993Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"ERBB4","HGNC:3432","https://search.clinicalgenome.org/kb/genes/HGNC:3432","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (10/23/2024)","0 - No Evidence for Triplosensitivity (10/23/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3432","Dosage Working Group","","","","","",""
"ERBIN","HGNC:15842","https://search.clinicalgenome.org/kb/genes/HGNC:15842","autosomal dominant combined immunodeficiency due to ERBIN deficiency","MONDO:0958120","https://search.clinicalgenome.org/kb/conditions/MONDO:0958120","Autosomal dominant inheritance","","","","","limited evidence (02/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7b31c5a-f637-41f6-ba84-dde5e3dc7738-2025-02-20T180000.000Z","SCID-CID","","",""
"ERCC1","HGNC:3433","https://search.clinicalgenome.org/kb/genes/HGNC:3433","cerebrooculofacioskeletal syndrome 4","MONDO:0012554","https://search.clinicalgenome.org/kb/conditions/MONDO:0012554","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3433","Dosage Working Group","","","","","",""
"ERCC2","HGNC:3434","https://search.clinicalgenome.org/kb/genes/HGNC:3434","xeroderma pigmentosum group D","MONDO:0010212","https://search.clinicalgenome.org/kb/conditions/MONDO:0010212","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/13/2023)","40 - Dosage Sensitivity Unlikely for Triplosensitivity (06/13/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3434","Dosage Working Group","definitive evidence (04/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91d0c244-d958-4358-8b92-cefefbce3843-2019-04-19T160000.000Z","Hereditary Cancer","","",""
"ERCC3","HGNC:3435","https://search.clinicalgenome.org/kb/genes/HGNC:3435","xeroderma pigmentosum group B","MONDO:0012531","https://search.clinicalgenome.org/kb/conditions/MONDO:0012531","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/30/2020)","0 - No Evidence for Triplosensitivity (06/30/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3435","Dosage Working Group","definitive evidence (04/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf09deab-9612-4b13-8bb7-4c2a25dde868-2019-04-19T160000.000Z","Hereditary Cancer","","",""
"ERCC4","HGNC:3436","https://search.clinicalgenome.org/kb/genes/HGNC:3436","xeroderma pigmentosum group F","MONDO:0010215","https://search.clinicalgenome.org/kb/conditions/MONDO:0010215","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/09/2023)","0 - No Evidence for Triplosensitivity (08/09/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3436","Dosage Working Group","definitive evidence (08/14/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89544dc5-2d3b-4b7f-b835-3fec714bf7a5-2019-08-14T194406.189Z","Hereditary Cancer","","",""
"ERCC5","HGNC:3437","https://search.clinicalgenome.org/kb/genes/HGNC:3437","xeroderma pigmentosum group G","MONDO:0010216","https://search.clinicalgenome.org/kb/conditions/MONDO:0010216","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","40 - Dosage Sensitivity Unlikely for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3437","Dosage Working Group","definitive evidence (04/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc08c954-8ded-449b-8f67-e4f044b26cda-2019-04-19T160000.000Z","Hereditary Cancer","","",""
"ERCC6","HGNC:3438","https://search.clinicalgenome.org/kb/genes/HGNC:3438","Cockayne spectrum with or without cerebrooculofacioskeletal syndrome","MONDO:0100506","https://search.clinicalgenome.org/kb/conditions/MONDO:0100506","Autosomal recessive inheritance","","","","","definitive evidence (08/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9dbf99e-d648-465c-8aa5-0840e76c0aeb-2022-08-18T100000.000Z","Syndromic Disorders","","",""
"ERCC6L2","HGNC:26922","https://search.clinicalgenome.org/kb/genes/HGNC:26922","pancytopenia-developmental delay syndrome","MONDO:0014317","https://search.clinicalgenome.org/kb/conditions/MONDO:0014317","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26922","Dosage Working Group","","","","","",""
"ERCC8","HGNC:3439","https://search.clinicalgenome.org/kb/genes/HGNC:3439","Cockayne syndrome type 1","MONDO:0019569","https://search.clinicalgenome.org/kb/conditions/MONDO:0019569","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3439","Dosage Working Group","definitive evidence (08/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_abb43bf9-5d0c-4753-8230-6bd97805a8bc-2022-08-12T100000.000Z","Syndromic Disorders","","",""
"ERF","HGNC:3444","https://search.clinicalgenome.org/kb/genes/HGNC:3444","craniosynostosis 4","MONDO:0010929","https://search.clinicalgenome.org/kb/conditions/MONDO:0010929","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/08/2021)","0 - No Evidence for Triplosensitivity (06/08/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3444","Dosage Working Group","definitive evidence (06/12/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1954ba97-532a-4ef3-9d62-c4ebfd252084-2021-06-12T062024.684Z","Craniofacial Malformations","","",""
"ERLIN1","HGNC:16947","https://search.clinicalgenome.org/kb/genes/HGNC:16947","hereditary spastic paraplegia 62","MONDO:0014302","https://search.clinicalgenome.org/kb/conditions/MONDO:0014302","Autosomal recessive inheritance","","","","","definitive evidence (06/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d668c62f-b002-4015-a629-ecbebed40e59-2025-06-18T190000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"ERLIN2","HGNC:1356","https://search.clinicalgenome.org/kb/genes/HGNC:1356","hereditary spastic paraplegia 18","MONDO:0012639","https://search.clinicalgenome.org/kb/conditions/MONDO:0012639","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","limited evidence (06/18/2025) | definitive evidence (06/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1467b8b6-6295-4fa8-bafc-86478e6ffd19-2025-06-18T190000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9599fa0e-da62-437d-8f6f-2f2ef0297c8c-2025-06-18T190000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders | Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"ERMARD","HGNC:21056","https://search.clinicalgenome.org/kb/genes/HGNC:21056","periventricular nodular heterotopia","MONDO:0020341","https://search.clinicalgenome.org/kb/conditions/MONDO:0020341","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (11/13/2013)","0 - No Evidence for Triplosensitivity (11/13/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21056","Dosage Working Group","limited evidence (07/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9acacc58-f84e-4a2a-906c-8a35f58256c1-2024-07-02T160000.000Z","Brain Malformations","","",""
"ESCO2","HGNC:27230","https://search.clinicalgenome.org/kb/genes/HGNC:27230","Roberts-SC phocomelia syndrome","MONDO:0100253","https://search.clinicalgenome.org/kb/conditions/MONDO:0100253","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:27230","Dosage Working Group","definitive evidence (03/19/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4020105e-bc43-4365-9540-9a8f77b37fae-2021-03-19T160000.000Z","Syndromic Disorders","","",""
"ESPN","HGNC:13281","https://search.clinicalgenome.org/kb/genes/HGNC:13281","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance | Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/07/2018)","0 - No Evidence for Triplosensitivity (02/07/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13281","Dosage Working Group","limited evidence (02/27/2018) | definitive evidence (02/27/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bdbd958-1ad2-447a-9ccd-ed86f308577a-2018-02-27T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c63a581-ad69-4f18-b68b-d1b2cef5e699-2018-02-27T170000.000Z","Hearing Loss | Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"ESPN","HGNC:13281","https://search.clinicalgenome.org/kb/genes/HGNC:13281","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (02/07/2018)","0 - No Evidence for Triplosensitivity (02/07/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13281","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"ESPN","HGNC:13281","https://search.clinicalgenome.org/kb/genes/HGNC:13281","autosomal recessive nonsyndromic hearing loss 36","MONDO:0012170","https://search.clinicalgenome.org/kb/conditions/MONDO:0012170","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (02/07/2018)","0 - No Evidence for Triplosensitivity (02/07/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13281","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"ESPN","HGNC:13281","https://search.clinicalgenome.org/kb/genes/HGNC:13281","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (02/07/2018)","0 - No Evidence for Triplosensitivity (02/07/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13281","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"ESRP1","HGNC:25966","https://search.clinicalgenome.org/kb/genes/HGNC:25966","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","limited evidence (07/22/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59032887-828f-44ad-9cbd-192f1604a8f5-2025-07-22T160000.000Z","Hearing Loss","","",""
"ESRRB","HGNC:3473","https://search.clinicalgenome.org/kb/genes/HGNC:3473","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","definitive evidence (04/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03c875bb-70aa-4652-a7f2-35df1065165b-2018-04-24T160000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"ESRRB","HGNC:3473","https://search.clinicalgenome.org/kb/genes/HGNC:3473","autosomal recessive nonsyndromic hearing loss 35","MONDO:0012060","https://search.clinicalgenome.org/kb/conditions/MONDO:0012060","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"ESRRB","HGNC:3473","https://search.clinicalgenome.org/kb/genes/HGNC:3473","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"ESRRB","HGNC:3473","https://search.clinicalgenome.org/kb/genes/HGNC:3473","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"ETFA","HGNC:3481","https://search.clinicalgenome.org/kb/genes/HGNC:3481","multiple acyl-CoA dehydrogenase deficiency","MONDO:0009282","https://search.clinicalgenome.org/kb/conditions/MONDO:0009282","Autosomal recessive inheritance","","","","","definitive evidence (05/22/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d6848e7-6e9e-4545-9f97-69480face058-2018-05-22T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"ETFB","HGNC:3482","https://search.clinicalgenome.org/kb/genes/HGNC:3482","multiple acyl-CoA dehydrogenase deficiency","MONDO:0009282","https://search.clinicalgenome.org/kb/conditions/MONDO:0009282","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3482","Dosage Working Group","definitive evidence (05/23/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9a8d844-c82a-4258-bd48-10e2d977273e-2023-05-23T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"ETFDH","HGNC:3483","https://search.clinicalgenome.org/kb/genes/HGNC:3483","multiple acyl-CoA dehydrogenase deficiency","MONDO:0009282","https://search.clinicalgenome.org/kb/conditions/MONDO:0009282","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3483","Dosage Working Group","definitive evidence (05/22/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_062e336e-cfda-45f7-b509-cd44a5079034-2018-05-22T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"ETHE1","HGNC:23287","https://search.clinicalgenome.org/kb/genes/HGNC:23287","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","definitive evidence (04/08/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d29d908d-ea85-4eb4-a6a5-400c95511c9a-2019-04-08T161759.443Z","Mitochondrial Diseases","","",""
"ETS1","HGNC:3488","https://search.clinicalgenome.org/kb/genes/HGNC:3488","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","moderate evidence (11/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d880eb55-5a26-46f7-b53d-1276c521fa1b-2023-11-21T050000.000Z","Congenital Heart Disease","","",""
"ETV6","HGNC:3495","https://search.clinicalgenome.org/kb/genes/HGNC:3495","thrombocytopenia 5","MONDO:0014536","https://search.clinicalgenome.org/kb/conditions/MONDO:0014536","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/11/2023)","0 - No Evidence for Triplosensitivity (01/11/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3495","Dosage Working Group","definitive evidence (01/22/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92a8c1cb-91c1-45cd-adbe-4180b1f6da7d-2020-01-22T170000.000Z","Hemostasis Thrombosis","","",""
"EVC2","HGNC:19747","https://search.clinicalgenome.org/kb/genes/HGNC:19747","Ellis-van Creveld syndrome","MONDO:0009162","https://search.clinicalgenome.org/kb/conditions/MONDO:0009162","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (07/18/2013)","0 - No Evidence for Triplosensitivity (07/18/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19747","Dosage Working Group","","","","","",""
"EWSR1","HGNC:3508","https://search.clinicalgenome.org/kb/genes/HGNC:3508","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Mode of inheritance","","","","","disputing (10/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e210cfa-3eb4-4f9b-ad0c-67cfae624029-2022-10-11T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"EXO1","HGNC:3511","https://search.clinicalgenome.org/kb/genes/HGNC:3511","Lynch syndrome","MONDO:0005835","https://search.clinicalgenome.org/kb/conditions/MONDO:0005835","Autosomal dominant inheritance","","","","","refuting evidence (12/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3981895c-65e4-4553-9e06-234162704eb4-2023-12-20T180000.000Z","Hereditary Cancer","","",""
"EXOC2","HGNC:24968","https://search.clinicalgenome.org/kb/genes/HGNC:24968","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal recessive inheritance","","","","","limited evidence (08/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8813a496-aad3-4854-83de-8c935d07ad44-2024-08-01T170000.000Z","Intellectual Disability and Autism","","",""
"EXOC6B","HGNC:17085","https://search.clinicalgenome.org/kb/genes/HGNC:17085","spondyloepimetaphyseal dysplasia with joint laxity, type 3","MONDO:0032724","https://search.clinicalgenome.org/kb/conditions/MONDO:0032724","Autosomal recessive inheritance","","","","","definitive evidence (07/02/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_162103c3-57c8-428c-8b31-4befec82aa4c-2025-07-02T160000.000Z","Skeletal Disorders","","",""
"EXOC7","HGNC:23214","https://search.clinicalgenome.org/kb/genes/HGNC:23214","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal recessive inheritance","","","","","moderate evidence (06/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfa8fad2-3961-4f16-861f-45ce6c859ad8-2023-06-20T160000.000Z","Intellectual Disability and Autism","","",""
"EXOSC3","HGNC:17944","https://search.clinicalgenome.org/kb/genes/HGNC:17944","pontocerebellar hypoplasia type 1B","MONDO:0013853","https://search.clinicalgenome.org/kb/conditions/MONDO:0013853","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17944","Dosage Working Group","","","","","",""
"EXPH5","HGNC:30578","https://search.clinicalgenome.org/kb/genes/HGNC:30578","epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive","MONDO:0014014","https://search.clinicalgenome.org/kb/conditions/MONDO:0014014","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30578","Dosage Working Group","","","","","",""
"EXT1","HGNC:3512","https://search.clinicalgenome.org/kb/genes/HGNC:3512","exostoses, multiple, type 1","MONDO:0007585","https://search.clinicalgenome.org/kb/conditions/MONDO:0007585","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/17/2020)","0 - No Evidence for Triplosensitivity (06/17/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3512","Dosage Working Group","definitive evidence (06/04/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ced1387-c0a8-4f03-bd70-1595cb7683fd-2018-06-04T170000.000Z","Hereditary Cancer","","",""
"EXT2","HGNC:3513","https://search.clinicalgenome.org/kb/genes/HGNC:3513","exostoses, multiple, type 2","MONDO:0007586","https://search.clinicalgenome.org/kb/conditions/MONDO:0007586","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/23/2020)","0 - No Evidence for Triplosensitivity (06/23/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3513","Dosage Working Group","definitive evidence (12/21/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e6829ce-3e0b-44c5-a214-756f33b1e948-2018-12-21T153126.680Z","Hereditary Cancer","","",""
"EYA1","HGNC:3519","https://search.clinicalgenome.org/kb/genes/HGNC:3519","branchio-oto-renal syndrome","MONDO:0007029","https://search.clinicalgenome.org/kb/conditions/MONDO:0007029","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","0 - No Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3519","Dosage Working Group","definitive evidence (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dca41ef6-ee63-4b1f-93d3-8b114dafcc58-2017-11-21T170000.000Z","Hearing Loss","","",""
"EYA1","HGNC:3519","https://search.clinicalgenome.org/kb/genes/HGNC:3519","branchiootorenal syndrome 1","MONDO:0007236","https://search.clinicalgenome.org/kb/conditions/MONDO:0007236","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","0 - No Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3519","Dosage Working Group","","","","","",""
"EYA4","HGNC:3522","https://search.clinicalgenome.org/kb/genes/HGNC:3522","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/22/2020)","0 - No Evidence for Triplosensitivity (01/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3522","Dosage Working Group","definitive evidence (01/05/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21c75059-bd7b-48ef-a828-28ffebe52ca0-2018-01-05T170000.000Z","Hearing Loss","","",""
"EYA4","HGNC:3522","https://search.clinicalgenome.org/kb/genes/HGNC:3522","dilated cardiomyopathy 1J","MONDO:0011541","https://search.clinicalgenome.org/kb/conditions/MONDO:0011541","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/22/2020)","0 - No Evidence for Triplosensitivity (01/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3522","Dosage Working Group","limited evidence (02/05/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e0a0bad-1f7a-402e-af19-a80453653b86-2025-02-05T050000.000Z","Dilated Cardiomyopathy","","",""
"EYA4","HGNC:3522","https://search.clinicalgenome.org/kb/genes/HGNC:3522","autosomal dominant nonsyndromic hearing loss 10","MONDO:0011031","https://search.clinicalgenome.org/kb/conditions/MONDO:0011031","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/22/2020)","0 - No Evidence for Triplosensitivity (01/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3522","Dosage Working Group","","","","","",""
"EYS","HGNC:21555","https://search.clinicalgenome.org/kb/genes/HGNC:21555","EYS-related retinopathy","MONDO:0800391","https://search.clinicalgenome.org/kb/conditions/MONDO:0800391","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21555","Dosage Working Group","definitive evidence (11/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f70860e-464d-4d26-aee0-07ef03e4da1b-2022-11-03T160000.000Z","Retina","","",""
"EYS","HGNC:21555","https://search.clinicalgenome.org/kb/genes/HGNC:21555","retinitis pigmentosa 25","MONDO:0011272","https://search.clinicalgenome.org/kb/conditions/MONDO:0011272","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21555","Dosage Working Group","","","","","",""
"EZH2","HGNC:3527","https://search.clinicalgenome.org/kb/genes/HGNC:3527","Weaver syndrome","MONDO:0010193","https://search.clinicalgenome.org/kb/conditions/MONDO:0010193","Autosomal dominant inheritance","","","","","definitive evidence (08/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5dcf5941-6076-4486-94be-7ba3944abaee-2022-08-03T160000.000Z","Intellectual Disability and Autism","","",""
"F10","HGNC:3528","https://search.clinicalgenome.org/kb/genes/HGNC:3528","congenital factor X deficiency","MONDO:0009212","https://search.clinicalgenome.org/kb/conditions/MONDO:0009212","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3528","Dosage Working Group","definitive evidence (11/27/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4adcc848-b354-4975-801f-4b55bbca64ad-2019-11-27T170000.000Z","Hemostasis Thrombosis","","",""
"F11","HGNC:3529","https://search.clinicalgenome.org/kb/genes/HGNC:3529","congenital factor XI deficiency","MONDO:0012897","https://search.clinicalgenome.org/kb/conditions/MONDO:0012897","Semidominant inheritance","","","","","definitive evidence (10/23/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a57ba9d9-45c5-48bc-b939-7593f67a86ed-2019-10-23T160000.000Z","Hemostasis Thrombosis","Strong Actionability (07/19/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC153",""
"F12","HGNC:3530","https://search.clinicalgenome.org/kb/genes/HGNC:3530","congenital factor XII deficiency","MONDO:0009315","https://search.clinicalgenome.org/kb/conditions/MONDO:0009315","Autosomal recessive inheritance","","","","","definitive evidence (01/22/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50bbe8d0-4feb-43c7-8573-9d7f85c82e54-2020-01-22T170000.000Z","Hemostasis Thrombosis","","",""
"F12","HGNC:3530","https://search.clinicalgenome.org/kb/genes/HGNC:3530","hereditary angioedema type 3","MONDO:0012526","https://search.clinicalgenome.org/kb/conditions/MONDO:0012526","Autosomal dominant inheritance","","","","","definitive evidence (09/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f40992c9-1172-4528-ab53-95108094d4b6-2024-09-04T160000.000Z","Hemostasis Thrombosis","","",""
"F13A1","HGNC:3531","https://search.clinicalgenome.org/kb/genes/HGNC:3531","factor XIII, A subunit, deficiency of","MONDO:0013187","https://search.clinicalgenome.org/kb/conditions/MONDO:0013187","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3531","Dosage Working Group","definitive evidence (07/22/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd9321a7-f45d-419e-94ce-101ab545a847-2020-07-22T160000.000Z","Hemostasis Thrombosis","","",""
"F13B","HGNC:3534","https://search.clinicalgenome.org/kb/genes/HGNC:3534","factor XIII, b subunit, deficiency of","MONDO:0013190","https://search.clinicalgenome.org/kb/conditions/MONDO:0013190","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3534","Dosage Working Group","definitive evidence (07/22/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_403b3588-323c-4103-9207-cc9c8be12281-2020-07-22T160000.000Z","Hemostasis Thrombosis","","",""
"F2","HGNC:3535","https://search.clinicalgenome.org/kb/genes/HGNC:3535","congenital prothrombin deficiency","MONDO:0013361","https://search.clinicalgenome.org/kb/conditions/MONDO:0013361","Autosomal recessive inheritance","","","","","definitive evidence (06/24/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ba9c4b9-9984-4d31-a9ae-bf638838f201-2020-06-24T160000.000Z","Hemostasis Thrombosis","","",""
"F2","HGNC:3535","https://search.clinicalgenome.org/kb/genes/HGNC:3535","thrombophilia due to thrombin defect","MONDO:0008559","https://search.clinicalgenome.org/kb/conditions/MONDO:0008559","Autosomal dominant inheritance","","","","","definitive evidence (06/24/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6389b3a3-ef86-4588-9be8-eb79dcb8d3cd-2020-06-24T160000.000Z","Hemostasis Thrombosis","","",""
"F5","HGNC:3542","https://search.clinicalgenome.org/kb/genes/HGNC:3542","congenital factor V deficiency","MONDO:0009210","https://search.clinicalgenome.org/kb/conditions/MONDO:0009210","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (01/11/2018)","0 - No Evidence for Triplosensitivity (01/11/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3542","Dosage Working Group","definitive evidence (03/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_beaa3af3-7d91-4d53-b081-de0e660c16c6-2020-03-25T160000.000Z","Hemostasis Thrombosis","Strong Actionability (11/10/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC149",""
"F5","HGNC:3542","https://search.clinicalgenome.org/kb/genes/HGNC:3542","thrombophilia due to activated protein C resistance","MONDO:0008560","https://search.clinicalgenome.org/kb/conditions/MONDO:0008560","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (01/11/2018)","0 - No Evidence for Triplosensitivity (01/11/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3542","Dosage Working Group","definitive evidence (09/30/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab28e09c-08ff-4149-a536-3cdb9cc4099f-2019-09-30T160000.000Z","Hemostasis Thrombosis","Limited Actionability (11/02/2015) | Moderate Actionability (04/04/2016) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/04/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC106 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC105 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC106"," |  | "
"F7","HGNC:3544","https://search.clinicalgenome.org/kb/genes/HGNC:3544","factor VII deficiency","MONDO:0002244","https://search.clinicalgenome.org/kb/conditions/MONDO:0002244","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3544","Dosage Working Group","definitive evidence (07/24/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_43fb4e99-e97a-4d9c-af11-79c2b09ecd2e-2019-07-24T160000.000Z","Hemostasis Thrombosis","Strong Actionability (05/29/2021) | Strong Actionability (05/29/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1038 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1038"," | "
"F7","HGNC:3544","https://search.clinicalgenome.org/kb/genes/HGNC:3544","congenital factor VII deficiency","MONDO:0009211","https://search.clinicalgenome.org/kb/conditions/MONDO:0009211","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3544","Dosage Working Group","","","","Strong Actionability (05/29/2021) | Strong Actionability (05/29/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1038 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1038"," | "
"F8","HGNC:3546","https://search.clinicalgenome.org/kb/genes/HGNC:3546","hemophilia A","MONDO:0010602","https://search.clinicalgenome.org/kb/conditions/MONDO:0010602","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2020)","0 - No Evidence for Triplosensitivity (10/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3546","Dosage Working Group","definitive evidence (07/24/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4578f11-b635-45f4-8034-310fca5fe960-2019-07-24T160000.000Z","Hemostasis Thrombosis","Assertion Pending (07/27/2016)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC044",""
"F8","HGNC:3546","https://search.clinicalgenome.org/kb/genes/HGNC:3546","hemophilia","MONDO:0018660","https://search.clinicalgenome.org/kb/conditions/MONDO:0018660","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2020)","0 - No Evidence for Triplosensitivity (10/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3546","Dosage Working Group","","","","Assertion Pending (07/27/2016)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC044",""
"F9","HGNC:3551","https://search.clinicalgenome.org/kb/genes/HGNC:3551","hemophilia B","MONDO:0010604","https://search.clinicalgenome.org/kb/conditions/MONDO:0010604","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/12/2021)","0 - No Evidence for Triplosensitivity (01/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3551","Dosage Working Group","definitive evidence (05/22/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d56d08d-48d0-4523-b433-dbd44c5b9e45-2019-05-22T190226.728Z","Hemostasis Thrombosis","Assertion Pending (07/27/2016)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC044",""
"F9","HGNC:3551","https://search.clinicalgenome.org/kb/genes/HGNC:3551","thrombophilia, X-linked, due to factor 9 defect","MONDO:0010432","https://search.clinicalgenome.org/kb/conditions/MONDO:0010432","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/12/2021)","0 - No Evidence for Triplosensitivity (01/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3551","Dosage Working Group","limited evidence (11/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b3a7f2c-a07a-4a10-b1f7-78642ebdaa5d-2023-11-06T170000.000Z","Hemostasis Thrombosis","","",""
"F9","HGNC:3551","https://search.clinicalgenome.org/kb/genes/HGNC:3551","hemophilia","MONDO:0018660","https://search.clinicalgenome.org/kb/conditions/MONDO:0018660","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/12/2021)","0 - No Evidence for Triplosensitivity (01/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3551","Dosage Working Group","","","","Assertion Pending (07/27/2016)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC044",""
"FA2H","HGNC:21197","https://search.clinicalgenome.org/kb/genes/HGNC:21197","hereditary spastic paraplegia 35","MONDO:0012866","https://search.clinicalgenome.org/kb/conditions/MONDO:0012866","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21197","Dosage Working Group","definitive evidence (01/27/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d5cb819a-ac27-4e87-9db3-6997c476d871-2025-01-27T170000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"FAAH2","HGNC:26440","https://search.clinicalgenome.org/kb/genes/HGNC:26440","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","","","","","disputing (06/12/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61e737d0-2314-41df-baf3-ac3cf2b2bff8-2025-06-12T170000.000Z","Intellectual Disability and Autism","","",""
"FAAP24","HGNC:28467","https://search.clinicalgenome.org/kb/genes/HGNC:28467","lymphoproliferative syndrome","MONDO:0016537","https://search.clinicalgenome.org/kb/conditions/MONDO:0016537","Autosomal recessive inheritance","","","","","disputing (06/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_640890b8-ed2f-46bd-bf07-74e59da80cc2-2024-06-07T160000.000Z","Primary Immune Regulatory Disorders","","",""
"FADD","HGNC:3573","https://search.clinicalgenome.org/kb/genes/HGNC:3573","FADD-related immunodeficiency","MONDO:0013408","https://search.clinicalgenome.org/kb/conditions/MONDO:0013408","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3573","Dosage Working Group","","","","","",""
"FAH","HGNC:3579","https://search.clinicalgenome.org/kb/genes/HGNC:3579","tyrosinemia type I","MONDO:0010161","https://search.clinicalgenome.org/kb/conditions/MONDO:0010161","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/02/2020)","0 - No Evidence for Triplosensitivity (09/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3579","Dosage Working Group","definitive evidence (06/29/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39c50699-f422-4bae-89ac-af13ef7cb8cc-2020-06-29T174149.440Z","Aminoacidopathy","","",""
"FAM111B","HGNC:24200","https://search.clinicalgenome.org/kb/genes/HGNC:24200","hereditary sclerosing poikiloderma with tendon and pulmonary involvement","MONDO:0014310","https://search.clinicalgenome.org/kb/conditions/MONDO:0014310","Autosomal dominant inheritance","","","","","moderate evidence (12/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d13f8dba-f9ae-42f3-a97a-dcc34b063e5b-2023-12-19T170000.000Z","Interstitial Lung Disease","","",""
"FAM161A","HGNC:25808","https://search.clinicalgenome.org/kb/genes/HGNC:25808","retinitis pigmentosa 28","MONDO:0011630","https://search.clinicalgenome.org/kb/conditions/MONDO:0011630","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25808","Dosage Working Group","","","","","",""
"FAM20B","HGNC:23017","https://search.clinicalgenome.org/kb/genes/HGNC:23017","congenital disorder of glycosylation","MONDO:0015286","https://search.clinicalgenome.org/kb/conditions/MONDO:0015286","Autosomal recessive inheritance","","","","","limited evidence (04/03/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72f70309-971d-4adf-8409-8aab95aad5e6-2025-04-03T170000.000Z","Congenital Disorders of Glycosylation","","",""
"FAM20C","HGNC:22140","https://search.clinicalgenome.org/kb/genes/HGNC:22140","lethal osteosclerotic bone dysplasia","MONDO:0009821","https://search.clinicalgenome.org/kb/conditions/MONDO:0009821","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:22140","Dosage Working Group","","","","","",""
"FAN1","HGNC:29170","https://search.clinicalgenome.org/kb/genes/HGNC:29170","hereditary nonpolyposis colon cancer","MONDO:0018630","https://search.clinicalgenome.org/kb/conditions/MONDO:0018630","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29170","Dosage Working Group","limited evidence (10/23/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9863","Colon Cancer","","",""
"FAN1","HGNC:29170","https://search.clinicalgenome.org/kb/genes/HGNC:29170","karyomegalic interstitial nephritis","MONDO:0013898","https://search.clinicalgenome.org/kb/conditions/MONDO:0013898","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29170","Dosage Working Group","","","","","",""
"FANCA","HGNC:3582","https://search.clinicalgenome.org/kb/genes/HGNC:3582","Fanconi anemia complementation group A","MONDO:0009215","https://search.clinicalgenome.org/kb/conditions/MONDO:0009215","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/11/2023)","0 - No Evidence for Triplosensitivity (10/11/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3582","Dosage Working Group","definitive evidence (04/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ceecf6ee-6700-40e5-a0d3-f7891805daac-2019-04-19T160000.000Z","Hereditary Cancer","Moderate Actionability (10/28/2019) | Moderate Actionability (10/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1008 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1008"," | "
"FANCA","HGNC:3582","https://search.clinicalgenome.org/kb/genes/HGNC:3582","Fanconi anemia","MONDO:0019391","https://search.clinicalgenome.org/kb/conditions/MONDO:0019391","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (10/11/2023)","0 - No Evidence for Triplosensitivity (10/11/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3582","Dosage Working Group","","","","Moderate Actionability (10/28/2019) | Moderate Actionability (10/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1008 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1008"," | "
"FANCB","HGNC:3583","https://search.clinicalgenome.org/kb/genes/HGNC:3583","Fanconi anemia complementation group B","MONDO:0010351","https://search.clinicalgenome.org/kb/conditions/MONDO:0010351","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/23/2021)","0 - No Evidence for Triplosensitivity (06/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3583","Dosage Working Group","definitive evidence (12/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb559b04-602e-42cc-aad3-ce634c145c26-2022-12-30T180000.000Z","Hereditary Cancer","","",""
"FANCC","HGNC:3584","https://search.clinicalgenome.org/kb/genes/HGNC:3584","Fanconi anemia complementation group C","MONDO:0009213","https://search.clinicalgenome.org/kb/conditions/MONDO:0009213","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (07/01/2025)","0 - No Evidence for Triplosensitivity (07/01/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3584","Dosage Working Group","definitive evidence (04/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf4881c3-15b3-4e10-bd24-2da80433863b-2019-04-19T160000.000Z","Hereditary Cancer","Moderate Actionability (10/28/2019) | Moderate Actionability (10/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1008 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1008"," | "
"FANCC","HGNC:3584","https://search.clinicalgenome.org/kb/genes/HGNC:3584","Fanconi anemia","MONDO:0019391","https://search.clinicalgenome.org/kb/conditions/MONDO:0019391","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (07/01/2025)","0 - No Evidence for Triplosensitivity (07/01/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3584","Dosage Working Group","","","","Moderate Actionability (10/28/2019) | Moderate Actionability (10/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1008 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1008"," | "
"FANCD2","HGNC:3585","https://search.clinicalgenome.org/kb/genes/HGNC:3585","Fanconi anemia complementation group D2","MONDO:0009214","https://search.clinicalgenome.org/kb/conditions/MONDO:0009214","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/09/2023)","0 - No Evidence for Triplosensitivity (08/09/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3585","Dosage Working Group","definitive evidence (06/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f0c260f-52d2-4225-9044-608f066ccfb2-2021-06-15T231506.767Z","Hereditary Cancer","","",""
"FANCE","HGNC:3586","https://search.clinicalgenome.org/kb/genes/HGNC:3586","Fanconi anemia complementation group E","MONDO:0010953","https://search.clinicalgenome.org/kb/conditions/MONDO:0010953","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/12/2020)","0 - No Evidence for Triplosensitivity (06/12/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3586","Dosage Working Group","definitive evidence (05/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6da55a6e-2cf8-499c-b842-b5a435dbff3f-2020-05-14T001745.604Z","Hereditary Cancer","","",""
"FANCF","HGNC:3587","https://search.clinicalgenome.org/kb/genes/HGNC:3587","Fanconi anemia complementation group F","MONDO:0011325","https://search.clinicalgenome.org/kb/conditions/MONDO:0011325","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (01/08/2025)","0 - No Evidence for Triplosensitivity (01/08/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3587","Dosage Working Group","definitive evidence (02/03/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60719ed8-36fa-4d11-93b2-8036133510a6-2021-02-03T225456.822Z","Hereditary Cancer","","",""
"FANCG","HGNC:3588","https://search.clinicalgenome.org/kb/genes/HGNC:3588","Fanconi anemia complementation group G","MONDO:0013565","https://search.clinicalgenome.org/kb/conditions/MONDO:0013565","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/15/2020)","0 - No Evidence for Triplosensitivity (11/15/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3588","Dosage Working Group","definitive evidence (04/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1913bd10-1355-4067-93b6-9068924d77df-2019-04-19T160000.000Z","Hereditary Cancer","Moderate Actionability (10/28/2019) | Moderate Actionability (10/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1008 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1008"," | "
"FANCG","HGNC:3588","https://search.clinicalgenome.org/kb/genes/HGNC:3588","Fanconi anemia","MONDO:0019391","https://search.clinicalgenome.org/kb/conditions/MONDO:0019391","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (11/15/2020)","0 - No Evidence for Triplosensitivity (11/15/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3588","Dosage Working Group","","","","Moderate Actionability (10/28/2019) | Moderate Actionability (10/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1008 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1008"," | "
"FANCI","HGNC:25568","https://search.clinicalgenome.org/kb/genes/HGNC:25568","Fanconi anemia complementation group I","MONDO:0012186","https://search.clinicalgenome.org/kb/conditions/MONDO:0012186","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25568","Dosage Working Group","definitive evidence (06/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a103db2f-a8b3-403b-993a-ac4215c118df-2021-06-15T233841.081Z","Hereditary Cancer","","",""
"FANCL","HGNC:20748","https://search.clinicalgenome.org/kb/genes/HGNC:20748","Fanconi anemia complementation group L","MONDO:0013566","https://search.clinicalgenome.org/kb/conditions/MONDO:0013566","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/21/2023)","0 - No Evidence for Triplosensitivity (10/21/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20748","Dosage Working Group","definitive evidence (07/30/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93d0cb5f-4859-4b28-b647-3f8226fe5921-2020-07-30T203845.671Z","Hereditary Cancer","","",""
"FANCM","HGNC:23168","https://search.clinicalgenome.org/kb/genes/HGNC:23168","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/09/2024)","0 - No Evidence for Triplosensitivity (04/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23168","Dosage Working Group","limited evidence (11/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25744c57-8e53-403b-a2ec-fb405ad452cc-2024-11-22T180000.000Z","Hereditary Cancer","","",""
"FANCM","HGNC:23168","https://search.clinicalgenome.org/kb/genes/HGNC:23168","FANCM Fanconi-like genomic instability disorder","MONDO:0100578","https://search.clinicalgenome.org/kb/conditions/MONDO:0100578","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/09/2024)","0 - No Evidence for Triplosensitivity (04/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23168","Dosage Working Group","definitive evidence (11/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_abb231b6-1452-4f24-a8c1-ab45a791e73c-2024-11-12T170000.000Z","Childhood, Adolescent and Young Adult Cancer Predisposition","","",""
"FANCM","HGNC:23168","https://search.clinicalgenome.org/kb/genes/HGNC:23168","Fanconi anemia","MONDO:0019391","https://search.clinicalgenome.org/kb/conditions/MONDO:0019391","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/09/2024)","0 - No Evidence for Triplosensitivity (04/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23168","Dosage Working Group","refuting evidence (12/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28865445-bea0-42c1-8f50-fae94e93f1d8-2024-12-10T170000.000Z","Childhood, Adolescent and Young Adult Cancer Predisposition","","",""
"FAR1","HGNC:26222","https://search.clinicalgenome.org/kb/genes/HGNC:26222","fatty acyl-CoA reductase 1 deficiency","MONDO:0014510","https://search.clinicalgenome.org/kb/conditions/MONDO:0014510","Autosomal recessive inheritance","","","","","moderate evidence (07/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91f6f864-5d07-4891-94b5-7f73bd71752c-2025-07-08T160000.000Z","Peroxisomal Disorders","","",""
"FAR1","HGNC:26222","https://search.clinicalgenome.org/kb/genes/HGNC:26222","fatty acyl-CoA reductase 1 upregulation","MONDO:0100230","https://search.clinicalgenome.org/kb/conditions/MONDO:0100230","Autosomal dominant inheritance","","","","","moderate evidence (07/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1068b8e8-36a1-4110-9ab4-45f9d4ece894-2025-07-08T160000.000Z","Peroxisomal Disorders","","",""
"FARS2","HGNC:21062","https://search.clinicalgenome.org/kb/genes/HGNC:21062","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21062","Dosage Working Group","moderate evidence (11/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cf7594a-d934-4b6c-8052-94066d608c5a-2019-11-25T144756.827Z","Mitochondrial Diseases","","",""
"FAS","HGNC:11920","https://search.clinicalgenome.org/kb/genes/HGNC:11920","autoimmune lymphoproliferative syndrome","MONDO:0017979","https://search.clinicalgenome.org/kb/conditions/MONDO:0017979","N/A","1 - Little Evidence for Haploinsufficiency (02/08/2022)","0 - No Evidence for Triplosensitivity (02/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11920","Dosage Working Group","","","","","",""
"FASLG","HGNC:11936","https://search.clinicalgenome.org/kb/genes/HGNC:11936","autoimmune lymphoproliferative syndrome type 1","MONDO:0011158","https://search.clinicalgenome.org/kb/conditions/MONDO:0011158","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/11/2023)","0 - No Evidence for Triplosensitivity (10/11/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11936","Dosage Working Group","definitive evidence (06/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41cb5abc-acba-4838-8965-2051c4a9e9ca-2024-06-07T160000.000Z","Primary Immune Regulatory Disorders","","",""
"FASTKD2","HGNC:29160","https://search.clinicalgenome.org/kb/genes/HGNC:29160","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (07/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82883e8c-7ee6-447e-bdc6-8898c4848e7a-2022-07-21T160000.000Z","Mitochondrial Diseases","","",""
"FAT1","HGNC:3595","https://search.clinicalgenome.org/kb/genes/HGNC:3595","focal segmental glomerulosclerosis","MONDO:0100313","https://search.clinicalgenome.org/kb/conditions/MONDO:0100313","Autosomal recessive inheritance","","","","","strong evidence (11/13/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6dbbe3f1-4a7a-4c76-b047-1c1d95771b74-2023-11-13T070000.000Z","Glomerulopathy","","",""
"FAT4","HGNC:23109","https://search.clinicalgenome.org/kb/genes/HGNC:23109","FAT4-related neurodevelopmental disorder","MONDO:0100603","https://search.clinicalgenome.org/kb/conditions/MONDO:0100603","Autosomal recessive inheritance","","","","","definitive evidence (02/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32ce4642-0431-4bd8-b1da-fb69ef6b01da-2025-02-20T050000.000Z","SCID-CID","","",""
"FBLN2","HGNC:3601","https://search.clinicalgenome.org/kb/genes/HGNC:3601","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","limited evidence (11/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db9581b7-ed36-4995-aebc-839225dd0666-2022-11-03T160000.000Z","Pulmonary Hypertension","","",""
"FBLN2","HGNC:3601","https://search.clinicalgenome.org/kb/genes/HGNC:3601","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (11/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d463eb0-c4b1-4f3c-bccf-86ec41c0fa68-2023-11-27T170000.000Z","Congenital Heart Disease","","",""
"FBLN5","HGNC:3602","https://search.clinicalgenome.org/kb/genes/HGNC:3602","demyelinating hereditary motor and sensory neuropathy","MONDO:0018776","https://search.clinicalgenome.org/kb/conditions/MONDO:0018776","Autosomal dominant inheritance","","","","","moderate evidence (11/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a863341a-9dcf-4a4f-a82d-7edb5e63fe92-2023-11-28T170000.000Z","Charcot-Marie-Tooth","","",""
"FBN1","HGNC:3603","https://search.clinicalgenome.org/kb/genes/HGNC:3603","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/04/2019)","0 - No Evidence for Triplosensitivity (12/04/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3603","Dosage Working Group","definitive evidence (01/23/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8251","Heritable Thoracic Aortic Aneurysm and Dissection","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC134 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC134"," | "
"FBN1","HGNC:3603","https://search.clinicalgenome.org/kb/genes/HGNC:3603","Marfan syndrome","MONDO:0007947","https://search.clinicalgenome.org/kb/conditions/MONDO:0007947","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/04/2019)","0 - No Evidence for Triplosensitivity (12/04/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3603","Dosage Working Group","definitive evidence (03/04/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3fc0bea-4d6e-449e-885c-b204e6a0b2bf-2019-03-04T170000.000Z","General Gene Curation","Definitive Actionability (03/01/2019) | Definitive Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC100 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC100"," | "
"FBN1","HGNC:3603","https://search.clinicalgenome.org/kb/genes/HGNC:3603","Shprintzen-Goldberg syndrome","MONDO:0008426","https://search.clinicalgenome.org/kb/conditions/MONDO:0008426","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/04/2019)","0 - No Evidence for Triplosensitivity (12/04/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3603","Dosage Working Group","disputing (11/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42caf14d-6400-475b-88f3-a8a24a0832c0-2021-11-30T230000.000Z","Intellectual Disability and Autism","","",""
"FBN2","HGNC:3604","https://search.clinicalgenome.org/kb/genes/HGNC:3604","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (02/28/2024)","0 - No Evidence for Triplosensitivity (02/28/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3604","Dosage Working Group","limited evidence (12/22/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8268","Heritable Thoracic Aortic Aneurysm and Dissection","","",""
"FBP1","HGNC:3606","https://search.clinicalgenome.org/kb/genes/HGNC:3606","fructose-1,6-bisphosphatase deficiency","MONDO:0009251","https://search.clinicalgenome.org/kb/conditions/MONDO:0009251","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3606","Dosage Working Group","","","","","",""
"FBXL4","HGNC:13601","https://search.clinicalgenome.org/kb/genes/HGNC:13601","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","definitive evidence (11/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fed67104-182c-48f2-85c0-ecb05cd6dd72-2020-11-23T193117.246Z","Mitochondrial Diseases","","",""
"FBXL4","HGNC:13601","https://search.clinicalgenome.org/kb/genes/HGNC:13601","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (05/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b211e7b2-d93b-4995-ad30-1f4d962867b0-2024-05-23T160000.000Z","Mitochondrial Diseases","","",""
"FBXO32","HGNC:16731","https://search.clinicalgenome.org/kb/genes/HGNC:16731","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","limited evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f006b4e-08a3-403c-86dd-704f741494fe-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"FBXO38","HGNC:28844","https://search.clinicalgenome.org/kb/genes/HGNC:28844","distal hereditary motor neuropathy","MONDO:0018894","https://search.clinicalgenome.org/kb/conditions/MONDO:0018894","Autosomal dominant inheritance","","","","","moderate evidence (01/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_350c1f45-5afd-4f36-8973-94acaf7bb961-2023-01-10T170000.000Z","Charcot-Marie-Tooth","","",""
"FBXO7","HGNC:13586","https://search.clinicalgenome.org/kb/genes/HGNC:13586","parkinsonian-pyramidal syndrome","MONDO:0009830","https://search.clinicalgenome.org/kb/conditions/MONDO:0009830","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13586","Dosage Working Group","","","","","",""
"FBXW4","HGNC:10847","https://search.clinicalgenome.org/kb/genes/HGNC:10847","split hand-foot malformation 3","MONDO:0009525","https://search.clinicalgenome.org/kb/conditions/MONDO:0009525","N/A","0 - No Evidence for Haploinsufficiency (10/08/2014)","0 - No Evidence for Triplosensitivity (10/08/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10847","Dosage Working Group","","","","","",""
"FCHO1","HGNC:29002","https://search.clinicalgenome.org/kb/genes/HGNC:29002","immunodeficiency 76","MONDO:0030898","https://search.clinicalgenome.org/kb/conditions/MONDO:0030898","Autosomal recessive inheritance","","","","","definitive evidence (07/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae21f2b2-e283-404b-9517-74fad00a352a-2023-07-20T170000.000Z","SCID-CID","","",""
"FCSK","HGNC:29500","https://search.clinicalgenome.org/kb/genes/HGNC:29500","congenital disorder of glycosylation with defective fucosylation 2","MONDO:0020777","https://search.clinicalgenome.org/kb/conditions/MONDO:0020777","Autosomal recessive inheritance","","","","","limited evidence (09/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebb05334-995a-4e93-ab33-16c35929296b-2024-09-18T170000.000Z","Congenital Disorders of Glycosylation","","",""
"FECH","HGNC:3647","https://search.clinicalgenome.org/kb/genes/HGNC:3647","protoporphyria, erythropoietic, 1","MONDO:0008319","https://search.clinicalgenome.org/kb/conditions/MONDO:0008319","Autosomal recessive inheritance","","","","","definitive evidence (01/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1b6529d-0a99-4ffd-9bbf-6bc15d76cb10-2023-01-27T200000.000Z","General Inborn Errors of Metabolism","","",""
"FERMT3","HGNC:23151","https://search.clinicalgenome.org/kb/genes/HGNC:23151","leukocyte adhesion deficiency 3","MONDO:0013016","https://search.clinicalgenome.org/kb/conditions/MONDO:0013016","Autosomal recessive inheritance","","","","","definitive evidence (08/28/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df792161-5efb-45f7-91ed-5fe76045fa06-2019-08-28T160000.000Z","Hemostasis Thrombosis","","",""
"FGA","HGNC:3661","https://search.clinicalgenome.org/kb/genes/HGNC:3661","congenital fibrinogen deficiency","MONDO:0018060","https://search.clinicalgenome.org/kb/conditions/MONDO:0018060","Semidominant inheritance","","","","","definitive evidence (01/22/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d34ded98-dbf7-4dc7-bea4-803db1857bf8-2020-01-22T170000.000Z","Hemostasis Thrombosis","","",""
"FGB","HGNC:3662","https://search.clinicalgenome.org/kb/genes/HGNC:3662","congenital fibrinogen deficiency","MONDO:0018060","https://search.clinicalgenome.org/kb/conditions/MONDO:0018060","Semidominant inheritance","","","","","definitive evidence (01/22/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_638c1588-9674-4bc3-a39c-2fc8f8b0ef09-2020-01-22T170000.000Z","Hemostasis Thrombosis","","",""
"FGD1","HGNC:3663","https://search.clinicalgenome.org/kb/genes/HGNC:3663","Aarskog-Scott syndrome, X-linked","MONDO:0010589","https://search.clinicalgenome.org/kb/conditions/MONDO:0010589","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/26/2021)","0 - No Evidence for Triplosensitivity (05/26/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3663","Dosage Working Group","definitive evidence (12/06/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4b652280-1291-4166-ac59-62caabd977bb-2017-12-06T110000.000Z","Intellectual Disability and Autism","","",""
"FGD4","HGNC:19125","https://search.clinicalgenome.org/kb/genes/HGNC:19125","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19125","Dosage Working Group","definitive evidence (04/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0aae8cd-9d57-4d8c-83ae-ed968cf186bc-2020-04-14T131822.010Z","Charcot-Marie-Tooth","","",""
"FGD4","HGNC:19125","https://search.clinicalgenome.org/kb/genes/HGNC:19125","Charcot-Marie-Tooth disease type 4H","MONDO:0012250","https://search.clinicalgenome.org/kb/conditions/MONDO:0012250","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19125","Dosage Working Group","","","","","",""
"FGF10","HGNC:3666","https://search.clinicalgenome.org/kb/genes/HGNC:3666","LADD syndrome","MONDO:0007872","https://search.clinicalgenome.org/kb/conditions/MONDO:0007872","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/23/2022)","0 - No Evidence for Triplosensitivity (02/23/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3666","Dosage Working Group","","","","","",""
"FGF12","HGNC:3668","https://search.clinicalgenome.org/kb/genes/HGNC:3668","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (12/01/2021)","1 - Little Evidence for Triplosensitivity (12/01/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3668","Dosage Working Group","definitive evidence (11/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54324da6-e7c7-4ad2-a669-d8ccd1a6b71a-2023-11-01T160000.000Z","Intellectual Disability and Autism","","",""
"FGF23","HGNC:3680","https://search.clinicalgenome.org/kb/genes/HGNC:3680","autosomal dominant hypophosphatemic rickets","MONDO:0008660","https://search.clinicalgenome.org/kb/conditions/MONDO:0008660","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (11/18/2021) | Limited Actionability (07/11/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC010 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC010"," | "
"FGF3","HGNC:3681","https://search.clinicalgenome.org/kb/genes/HGNC:3681","deafness with labyrinthine aplasia, microtia, and microdontia","MONDO:0012541","https://search.clinicalgenome.org/kb/conditions/MONDO:0012541","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3681","Dosage Working Group","definitive evidence (05/21/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ca11e8c-6703-4be5-a8c2-82e6dcc865e4-2019-05-21T160000.000Z","Hearing Loss","","",""
"FGF8","HGNC:3686","https://search.clinicalgenome.org/kb/genes/HGNC:3686","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","moderate evidence (05/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcfc7314-105a-428b-b4a0-0a0da4702192-2024-05-07T160000.000Z","Congenital Heart Disease","","",""
"FGF9","HGNC:3687","https://search.clinicalgenome.org/kb/genes/HGNC:3687","multiple synostoses syndrome","MONDO:0017923","https://search.clinicalgenome.org/kb/conditions/MONDO:0017923","Autosomal dominant inheritance","","","","","definitive evidence (06/24/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1fd535ba-f5b4-469b-8866-894cf9e4e1d0-2025-06-24T040000.000Z","Craniofacial Malformations","","",""
"FGFR1","HGNC:3688","https://search.clinicalgenome.org/kb/genes/HGNC:3688","Hartsfield-Bixler-Demyer syndrome","MONDO:0014196","https://search.clinicalgenome.org/kb/conditions/MONDO:0014196","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/05/2021)","0 - No Evidence for Triplosensitivity (04/05/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3688","Dosage Working Group","moderate evidence (03/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec5034c6-70cb-4ba3-bbb9-f65f6cad393d-2021-03-16T235509.401Z","Craniofacial Malformations","","",""
"FGFR1","HGNC:3688","https://search.clinicalgenome.org/kb/genes/HGNC:3688","osteoglophonic dysplasia","MONDO:0008150","https://search.clinicalgenome.org/kb/conditions/MONDO:0008150","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/05/2021)","0 - No Evidence for Triplosensitivity (04/05/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3688","Dosage Working Group","limited evidence (03/22/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d958e743-2ca0-4bb9-a198-364dd58005c3-2021-03-22T203501.315Z","Craniofacial Malformations","","",""
"FGFR1","HGNC:3688","https://search.clinicalgenome.org/kb/genes/HGNC:3688","Pfeiffer syndrome type 1","MONDO:0019659","https://search.clinicalgenome.org/kb/conditions/MONDO:0019659","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/05/2021)","0 - No Evidence for Triplosensitivity (04/05/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3688","Dosage Working Group","definitive evidence (05/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4fef65d0-f73c-45fe-968e-86073674cb7e-2021-05-21T224433.397Z","Craniofacial Malformations","","",""
"FGFR1","HGNC:3688","https://search.clinicalgenome.org/kb/genes/HGNC:3688","hypogonadotropic hypogonadism 2 with or without anosmia","MONDO:0007844","https://search.clinicalgenome.org/kb/conditions/MONDO:0007844","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/05/2021)","0 - No Evidence for Triplosensitivity (04/05/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3688","Dosage Working Group","","","","","",""
"FGFR2","HGNC:3689","https://search.clinicalgenome.org/kb/genes/HGNC:3689","Apert syndrome","MONDO:0007041","https://search.clinicalgenome.org/kb/conditions/MONDO:0007041","Autosomal dominant inheritance","","","","","definitive evidence (12/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2aa63602-d820-4fee-893b-b807e7b62f28-2021-12-14T221137.192Z","Craniofacial Malformations","","",""
"FGFR2","HGNC:3689","https://search.clinicalgenome.org/kb/genes/HGNC:3689","Crouzon syndrome","MONDO:0007405","https://search.clinicalgenome.org/kb/conditions/MONDO:0007405","Autosomal dominant inheritance","","","","","definitive evidence (12/23/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2cfa70a-750f-4357-98b9-f5c30ca4dc26-2021-12-23T165345.170Z","Craniofacial Malformations","","",""
"FGFR2","HGNC:3689","https://search.clinicalgenome.org/kb/genes/HGNC:3689","Pfeiffer syndrome","MONDO:0007043","https://search.clinicalgenome.org/kb/conditions/MONDO:0007043","Autosomal dominant inheritance","","","","","definitive evidence (03/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eccfe56b-15d7-4ba9-abf2-163dfd3dab3c-2022-03-21T210958.425Z","Craniofacial Malformations","","",""
"FGFR2","HGNC:3689","https://search.clinicalgenome.org/kb/genes/HGNC:3689","Beare-Stevenson cutis gyrata syndrome","MONDO:0007412","https://search.clinicalgenome.org/kb/conditions/MONDO:0007412","Autosomal dominant inheritance","","","","","definitive evidence (03/31/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7805e806-44ee-4339-a078-d62c204bff00-2022-03-31T163711.748Z","Craniofacial Malformations","","",""
"FGFR2","HGNC:3689","https://search.clinicalgenome.org/kb/genes/HGNC:3689","bent bone dysplasia syndrome 1","MONDO:0013815","https://search.clinicalgenome.org/kb/conditions/MONDO:0013815","Autosomal dominant inheritance","","","","","definitive evidence (05/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e38491d-8fb8-49f4-95a6-eb51df5014ba-2022-05-19T160000.000Z","Craniofacial Malformations","","",""
"FGFR2","HGNC:3689","https://search.clinicalgenome.org/kb/genes/HGNC:3689","LADD syndrome","MONDO:0007872","https://search.clinicalgenome.org/kb/conditions/MONDO:0007872","Autosomal dominant inheritance","","","","","limited evidence (06/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cce7558c-ec9c-4d2a-bff5-2c1646de955f-2022-06-16T160000.000Z","Craniofacial Malformations","","",""
"FGFR3","HGNC:3690","https://search.clinicalgenome.org/kb/genes/HGNC:3690","Muenke syndrome","MONDO:0011274","https://search.clinicalgenome.org/kb/conditions/MONDO:0011274","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/09/2011)","0 - No Evidence for Triplosensitivity (11/09/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3690","Dosage Working Group","definitive evidence (03/29/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e94c1870-5413-4f75-8925-8bea54199d47-2022-03-29T172023.530Z","Craniofacial Malformations","","",""
"FGFR3","HGNC:3690","https://search.clinicalgenome.org/kb/genes/HGNC:3690","Crouzon syndrome-acanthosis nigricans syndrome","MONDO:0012833","https://search.clinicalgenome.org/kb/conditions/MONDO:0012833","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/09/2011)","0 - No Evidence for Triplosensitivity (11/09/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3690","Dosage Working Group","definitive evidence (11/18/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98727c21-26dd-4e65-b75e-8ec82d95ba97-2021-11-18T170000.000Z","Craniofacial Malformations","","",""
"FGFR3","HGNC:3690","https://search.clinicalgenome.org/kb/genes/HGNC:3690","camptodactyly-tall stature-scoliosis-hearing loss syndrome","MONDO:0012504","https://search.clinicalgenome.org/kb/conditions/MONDO:0012504","Semidominant inheritance","0 - No Evidence for Haploinsufficiency (11/09/2011)","0 - No Evidence for Triplosensitivity (11/09/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3690","Dosage Working Group","moderate evidence (06/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90130560-3e24-46a9-beaa-c67792773d3d-2022-06-07T040000.000Z","Skeletal Disorders","","",""
"FGFR3","HGNC:3690","https://search.clinicalgenome.org/kb/genes/HGNC:3690","severe achondroplasia-developmental delay-acanthosis nigricans syndrome","MONDO:0014658","https://search.clinicalgenome.org/kb/conditions/MONDO:0014658","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/09/2011)","0 - No Evidence for Triplosensitivity (11/09/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3690","Dosage Working Group","moderate evidence (05/09/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7daa910-8226-46cc-8a65-034c0833d9cc-2022-05-09T040000.000Z","Skeletal Disorders","","",""
"FGFR3","HGNC:3690","https://search.clinicalgenome.org/kb/genes/HGNC:3690","achondroplasia","MONDO:0007037","https://search.clinicalgenome.org/kb/conditions/MONDO:0007037","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/09/2011)","0 - No Evidence for Triplosensitivity (11/09/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3690","Dosage Working Group","definitive evidence (09/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0adafa1b-e609-4b99-8e90-f73473b70771-2023-09-28T040000.000Z","Skeletal Disorders","Has Insufficient Evidence for Actionability Based on Early Rule-out (01/30/2020) | Has Insufficient Evidence for Actionability Based on Early Rule-out (01/30/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1005 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1005"," | "
"FGFR3","HGNC:3690","https://search.clinicalgenome.org/kb/genes/HGNC:3690","hypochondroplasia","MONDO:0007793","https://search.clinicalgenome.org/kb/conditions/MONDO:0007793","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/09/2011)","0 - No Evidence for Triplosensitivity (11/09/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3690","Dosage Working Group","definitive evidence (09/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_518a0eb2-f7ea-40e8-acad-afc34f5b188e-2023-09-28T040000.000Z","Skeletal Disorders","Has Insufficient Evidence for Actionability Based on Expert Review (10/07/2024) | Has Insufficient Evidence for Actionability Based on Early Rule-out (10/07/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1080 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1080"," | "
"FGFR3","HGNC:3690","https://search.clinicalgenome.org/kb/genes/HGNC:3690","thanatophoric dysplasia","MONDO:0017042","https://search.clinicalgenome.org/kb/conditions/MONDO:0017042","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/09/2011)","0 - No Evidence for Triplosensitivity (11/09/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3690","Dosage Working Group","definitive evidence (01/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c00b5e7-5685-4f03-b9ac-1601b62e57c5-2022-01-13T170000.000Z","Skeletal Disorders","","",""
"FGFR3","HGNC:3690","https://search.clinicalgenome.org/kb/genes/HGNC:3690","FGFR3-related chondrodysplasia","MONDO:0019685","https://search.clinicalgenome.org/kb/conditions/MONDO:0019685","N/A","0 - No Evidence for Haploinsufficiency (11/09/2011)","0 - No Evidence for Triplosensitivity (11/09/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3690","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Expert Review (10/07/2024) | Has Insufficient Evidence for Actionability Based on Early Rule-out (10/07/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1080 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1080"," | "
"FGG","HGNC:3694","https://search.clinicalgenome.org/kb/genes/HGNC:3694","congenital fibrinogen deficiency","MONDO:0018060","https://search.clinicalgenome.org/kb/conditions/MONDO:0018060","Semidominant inheritance","","","","","definitive evidence (01/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9ef37f0f-a5ae-402c-b319-7f7d731ecbb1-2020-01-23T173301.596Z","Hemostasis Thrombosis","","",""
"FH","HGNC:3700","https://search.clinicalgenome.org/kb/genes/HGNC:3700","hereditary leiomyomatosis and renal cell cancer","MONDO:0007888","https://search.clinicalgenome.org/kb/conditions/MONDO:0007888","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/06/2020)","0 - No Evidence for Triplosensitivity (07/06/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3700","Dosage Working Group","definitive evidence (05/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59e42ccd-2b0b-441c-8529-6eb1e9dde330-2020-05-14T002334.007Z","Hereditary Cancer","Strong Actionability (05/15/2023) | Moderate Actionability (05/15/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC061 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC061"," | "
"FHL1","HGNC:3702","https://search.clinicalgenome.org/kb/genes/HGNC:3702","Emery-Dreifuss muscular dystrophy","MONDO:0016830","https://search.clinicalgenome.org/kb/conditions/MONDO:0016830","N/A","","","","","","","","Limited Actionability (07/13/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC143",""
"FHL1","HGNC:3702","https://search.clinicalgenome.org/kb/genes/HGNC:3702","X-linked myopathy with postural muscle atrophy","MONDO:0010401","https://search.clinicalgenome.org/kb/conditions/MONDO:0010401","N/A","","","","","","","","Limited Actionability (07/13/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC143",""
"FHOD3","HGNC:26178","https://search.clinicalgenome.org/kb/genes/HGNC:26178","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","definitive evidence (09/29/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c31027fe-8143-4022-8bbb-867eb1692c51-2023-09-29T160000.000Z","Hereditary Cardiovascular Disease","","",""
"FIG4","HGNC:16873","https://search.clinicalgenome.org/kb/genes/HGNC:16873","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Autosomal recessive inheritance","","","","","definitive evidence (01/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cbc44812-5fe4-4e11-ac89-58e4175d4463-2025-01-08T170000.000Z","Charcot-Marie-Tooth","","",""
"FIG4","HGNC:16873","https://search.clinicalgenome.org/kb/genes/HGNC:16873","amyotrophic lateral sclerosis type 11","MONDO:0012945","https://search.clinicalgenome.org/kb/conditions/MONDO:0012945","Autosomal dominant inheritance","","","","","limited evidence (08/09/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d038fb84-1f98-4047-b6c5-039a53756775-2022-08-09T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"FITM2","HGNC:16135","https://search.clinicalgenome.org/kb/genes/HGNC:16135","Siddiqi syndrome","MONDO:0032842","https://search.clinicalgenome.org/kb/conditions/MONDO:0032842","Autosomal recessive inheritance","","","","","definitive evidence (10/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a18aeda-fbe1-49b3-9542-6402ea61b4c0-2022-10-17T160000.000Z","Cerebral Palsy","","",""
"FKBP14","HGNC:18625","https://search.clinicalgenome.org/kb/genes/HGNC:18625","Ehlers-Danlos syndrome, kyphoscoliotic type, 2","MONDO:0013800","https://search.clinicalgenome.org/kb/conditions/MONDO:0013800","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18625","Dosage Working Group","","","","","",""
"FKRP","HGNC:17997","https://search.clinicalgenome.org/kb/genes/HGNC:17997","myopathy caused by variation in FKRP","MONDO:0700066","https://search.clinicalgenome.org/kb/conditions/MONDO:0700066","Autosomal recessive inheritance","","","","","definitive evidence (08/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6cb46400-ca4b-48cd-aaf7-dd493f0d2971-2024-08-13T190000.000Z","Muscular Dystrophies and Myopathies","","",""
"FKTN","HGNC:3622","https://search.clinicalgenome.org/kb/genes/HGNC:3622","myopathy caused by variation in FKTN","MONDO:0700067","https://search.clinicalgenome.org/kb/conditions/MONDO:0700067","Autosomal recessive inheritance","","","","","definitive evidence (08/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54e23f1a-3b1b-49ef-aa02-6b46374b1546-2024-08-13T040000.000Z","Muscular Dystrophies and Myopathies","","",""
"FLAD1","HGNC:24671","https://search.clinicalgenome.org/kb/genes/HGNC:24671","myopathy with abnormal lipid metabolism","MONDO:0009703","https://search.clinicalgenome.org/kb/conditions/MONDO:0009703","Autosomal recessive inheritance","","","","","definitive evidence (12/16/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_769764bf-09c5-4a7d-8501-5fcf154fcdda-2020-12-16T181902.981Z","Fatty Acid Oxidation Disorders","","",""
"FLCN","HGNC:27310","https://search.clinicalgenome.org/kb/genes/HGNC:27310","obsolete Birt-Hogg-Dube syndrome","MONDO:0007607","https://search.clinicalgenome.org/kb/conditions/MONDO:0007607","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/11/2023)","0 - No Evidence for Triplosensitivity (01/11/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:27310","Dosage Working Group","definitive evidence (04/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c96620e8-f9c9-41a0-a979-31fb9928abb6-2019-04-19T160000.000Z","Hereditary Cancer","","",""
"FLCN","HGNC:27310","https://search.clinicalgenome.org/kb/genes/HGNC:27310","Birt-Hogg-Dube syndrome 1","MONDO:0800445","https://search.clinicalgenome.org/kb/conditions/MONDO:0800445","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/11/2023)","0 - No Evidence for Triplosensitivity (01/11/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:27310","Dosage Working Group","","","","Moderate Actionability (03/22/2023) | Limited Actionability (03/22/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC041"," | "
"FLCN","HGNC:27310","https://search.clinicalgenome.org/kb/genes/HGNC:27310","Birt-Hogg-Dube syndrome","MONDO:0800444","https://search.clinicalgenome.org/kb/conditions/MONDO:0800444","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/11/2023)","0 - No Evidence for Triplosensitivity (01/11/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:27310","Dosage Working Group","","","","Moderate Actionability (03/22/2023) | Limited Actionability (03/22/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC041 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC041"," | "
"FLG","HGNC:3748","https://search.clinicalgenome.org/kb/genes/HGNC:3748","inherited ichthyosis","MONDO:0015947","https://search.clinicalgenome.org/kb/conditions/MONDO:0015947","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/26/2020)","0 - No Evidence for Triplosensitivity (02/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3748","Dosage Working Group","","","","","",""
"FLI1","HGNC:3749","https://search.clinicalgenome.org/kb/genes/HGNC:3749","bleeding disorder, platelet-type, 21","MONDO:0054577","https://search.clinicalgenome.org/kb/conditions/MONDO:0054577","Autosomal dominant inheritance","","","","","moderate evidence (09/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd0eaa15-3ee7-4db7-9920-c380757ece33-2023-09-06T170000.000Z","Hemostasis Thrombosis","","",""
"FLII","HGNC:3750","https://search.clinicalgenome.org/kb/genes/HGNC:3750","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","moderate evidence (06/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_660622fe-f967-42be-a565-0383e5f710c2-2024-06-14T040000.000Z","Dilated Cardiomyopathy","","",""
"FLNA","HGNC:3754","https://search.clinicalgenome.org/kb/genes/HGNC:3754","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/02/2020)","0 - No Evidence for Triplosensitivity (12/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3754","Dosage Working Group","limited evidence (12/22/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8274","Heritable Thoracic Aortic Aneurysm and Dissection","","",""
"FLNA","HGNC:3754","https://search.clinicalgenome.org/kb/genes/HGNC:3754","periventricular nodular heterotopia","MONDO:0020341","https://search.clinicalgenome.org/kb/conditions/MONDO:0020341","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/02/2020)","0 - No Evidence for Triplosensitivity (12/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3754","Dosage Working Group","definitive evidence (12/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80bc6280-7c21-4168-8a98-93c31fead5d7-2020-12-27T231155.213Z","Intellectual Disability and Autism","","",""
"FLNA","HGNC:3754","https://search.clinicalgenome.org/kb/genes/HGNC:3754","heterotopia, periventricular, X-linked dominant","MONDO:0010233","https://search.clinicalgenome.org/kb/conditions/MONDO:0010233","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/02/2020)","0 - No Evidence for Triplosensitivity (12/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3754","Dosage Working Group","","","","","",""
"FLNC","HGNC:3756","https://search.clinicalgenome.org/kb/genes/HGNC:3756","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/13/2021)","0 - No Evidence for Triplosensitivity (07/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3756","Dosage Working Group","definitive evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_edb5197f-05dc-42a4-a497-fff472985c6b-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"FLNC","HGNC:3756","https://search.clinicalgenome.org/kb/genes/HGNC:3756","myofibrillar myopathy","MONDO:0018943","https://search.clinicalgenome.org/kb/conditions/MONDO:0018943","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/13/2021)","0 - No Evidence for Triplosensitivity (07/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3756","Dosage Working Group","definitive evidence (10/26/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d61672a0-06f2-4df4-845b-57566075fdb1-2023-10-26T010000.000Z","Hereditary Cardiovascular Disease","Moderate Actionability (09/06/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC155",""
"FLNC","HGNC:3756","https://search.clinicalgenome.org/kb/genes/HGNC:3756","myofibrillar myopathy 5","MONDO:0012289","https://search.clinicalgenome.org/kb/conditions/MONDO:0012289","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/13/2021)","0 - No Evidence for Triplosensitivity (07/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3756","Dosage Working Group","","","","Moderate Actionability (09/06/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC155",""
"FLT4","HGNC:3767","https://search.clinicalgenome.org/kb/genes/HGNC:3767","congenital heart defects, multiple types, 7","MONDO:0032913","https://search.clinicalgenome.org/kb/conditions/MONDO:0032913","Autosomal dominant inheritance","","","","","definitive evidence (03/08/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03e5cbf0-2888-4416-bb0f-85909fc297ce-2023-03-08T170000.000Z","Prenatal","","",""
"FLT4","HGNC:3767","https://search.clinicalgenome.org/kb/genes/HGNC:3767","lymphatic malformation 1","MONDO:0007919","https://search.clinicalgenome.org/kb/conditions/MONDO:0007919","Autosomal dominant inheritance","","","","","definitive evidence (12/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_623ef8f5-43ba-43e2-9c2d-fd44e87d6946-2022-12-19T170000.000Z","Prenatal","","",""
"FLVCR1","HGNC:24682","https://search.clinicalgenome.org/kb/genes/HGNC:24682","FLVCR1-related retinopathy with or without ataxia","MONDO:0100449","https://search.clinicalgenome.org/kb/conditions/MONDO:0100449","Autosomal recessive inheritance","","","","","definitive evidence (08/05/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e53e1a9-b1b9-4617-be3a-012399a06ef6-2021-08-05T160000.000Z","Retina","","",""
"FLVCR2","HGNC:20105","https://search.clinicalgenome.org/kb/genes/HGNC:20105","Fowler syndrome","MONDO:0009168","https://search.clinicalgenome.org/kb/conditions/MONDO:0009168","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20105","Dosage Working Group","","","","","",""
"FMO3","HGNC:3771","https://search.clinicalgenome.org/kb/genes/HGNC:3771","trimethylaminuria","MONDO:0011182","https://search.clinicalgenome.org/kb/conditions/MONDO:0011182","Autosomal recessive inheritance","","","","","definitive evidence (08/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18ed3960-c745-46f1-aecc-155e713d6ef5-2020-08-14T184718.502Z","Aminoacidopathy","","",""
"FMO5","HGNC:3773","https://search.clinicalgenome.org/kb/genes/HGNC:3773","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (11/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db8f477a-e653-4f3f-be67-c804228380f7-2023-11-27T050000.000Z","Congenital Heart Disease","","",""
"FMR1","HGNC:3775","https://search.clinicalgenome.org/kb/genes/HGNC:3775","fragile X syndrome","MONDO:0010383","https://search.clinicalgenome.org/kb/conditions/MONDO:0010383","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/16/2020)","0 - No Evidence for Triplosensitivity (12/16/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3775","Dosage Working Group","definitive evidence (06/03/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e491d278-7123-434c-8de3-46e16afb4037-2019-06-03T160000.000Z","Intellectual Disability and Autism","","",""
"FN1","HGNC:3778","https://search.clinicalgenome.org/kb/genes/HGNC:3778","glomerulopathy with fibronectin deposits 2","MONDO:0011165","https://search.clinicalgenome.org/kb/conditions/MONDO:0011165","Autosomal dominant inheritance","","","","","moderate evidence (10/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ffbb09f-bf2d-4d76-9176-4961ce8862e9-2023-10-04T160000.000Z","Glomerulopathy","","",""
"FN1","HGNC:3778","https://search.clinicalgenome.org/kb/genes/HGNC:3778","spondylometaphyseal dysplasia, 'corner fracture' type","MONDO:0008479","https://search.clinicalgenome.org/kb/conditions/MONDO:0008479","Autosomal dominant inheritance","","","","","definitive evidence (03/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33f71829-1d1a-4d34-b2ff-1df63ec5d0b5-2024-03-06T170000.000Z","Skeletal Disorders","","",""
"FNIP1","HGNC:29418","https://search.clinicalgenome.org/kb/genes/HGNC:29418","FNIP1-associated syndrome","MONDO:0100432","https://search.clinicalgenome.org/kb/conditions/MONDO:0100432","Autosomal recessive inheritance","","","","","definitive evidence (11/26/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25c930ed-965b-47ae-b9c2-7157b06cb868-2024-11-26T170000.000Z","Antibody Deficiencies GCEP","","",""
"FOLR1","HGNC:3791","https://search.clinicalgenome.org/kb/genes/HGNC:3791","neurodegenerative syndrome due to cerebral folate transport deficiency","MONDO:0013110","https://search.clinicalgenome.org/kb/conditions/MONDO:0013110","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/25/2019)","0 - No Evidence for Triplosensitivity (06/25/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3791","Dosage Working Group","definitive evidence (10/20/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22c12588-dc55-4e90-827a-d7a6349e38a9-2017-10-20T100000.000Z","Intellectual Disability and Autism","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/07/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/07/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1025 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1025"," | "
"FOSL2","HGNC:3798","https://search.clinicalgenome.org/kb/genes/HGNC:3798","aplasia cutis-enamel dysplasia syndrome","MONDO:0968978","https://search.clinicalgenome.org/kb/conditions/MONDO:0968978","N/A","0 - No Evidence for Haploinsufficiency (12/10/2024)","0 - No Evidence for Triplosensitivity (12/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3798","Dosage Working Group","","","","","",""
"FOXA2","HGNC:5022","https://search.clinicalgenome.org/kb/genes/HGNC:5022","combined pituitary hormone deficiencies, genetic form","MONDO:0013099","https://search.clinicalgenome.org/kb/conditions/MONDO:0013099","Autosomal dominant inheritance","","","","","moderate evidence (11/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a995738-1ea3-454b-b92f-251d4b21d530-2022-11-22T200000.000Z","Brain Malformations","","",""
"FOXC1","HGNC:3800","https://search.clinicalgenome.org/kb/genes/HGNC:3800","anterior segment dysgenesis 3","MONDO:0024456","https://search.clinicalgenome.org/kb/conditions/MONDO:0024456","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/29/2020)","0 - No Evidence for Triplosensitivity (07/29/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3800","Dosage Working Group","definitive evidence (12/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2271229-84ea-4aff-81b4-3428c173ed7b-2021-12-15T031246.818Z","Glaucoma and Neuro-Ophthalmology","","",""
"FOXC1","HGNC:3800","https://search.clinicalgenome.org/kb/genes/HGNC:3800","Axenfeld-Rieger syndrome type 3","MONDO:0011233","https://search.clinicalgenome.org/kb/conditions/MONDO:0011233","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/29/2020)","0 - No Evidence for Triplosensitivity (07/29/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3800","Dosage Working Group","","","","","",""
"FOXC2","HGNC:3801","https://search.clinicalgenome.org/kb/genes/HGNC:3801","lymphedema-distichiasis syndrome","MONDO:0007922","https://search.clinicalgenome.org/kb/conditions/MONDO:0007922","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/26/2013)","0 - No Evidence for Triplosensitivity (11/26/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3801","Dosage Working Group","definitive evidence (01/24/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_757840b2-8b39-44d0-aff9-dd9983e77d0f-2024-01-24T170000.000Z","Prenatal","","",""
"FOXD3","HGNC:3804","https://search.clinicalgenome.org/kb/genes/HGNC:3804","aniridia","MONDO:0019172","https://search.clinicalgenome.org/kb/conditions/MONDO:0019172","Autosomal dominant inheritance","","","","","disputing (12/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4b3b44d-26d8-4519-9d0d-2259022e79c6-2022-12-15T170000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"FOXE1","HGNC:3806","https://search.clinicalgenome.org/kb/genes/HGNC:3806","Bamforth-Lazarus syndrome","MONDO:0009437","https://search.clinicalgenome.org/kb/conditions/MONDO:0009437","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3806","Dosage Working Group","definitive evidence (05/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a00a763-90dc-4d36-8b34-54cf4f477269-2024-05-16T160000.000Z","Craniofacial Malformations","","",""
"FOXE3","HGNC:3808","https://search.clinicalgenome.org/kb/genes/HGNC:3808","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (12/13/2017)","0 - No Evidence for Triplosensitivity (12/13/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3808","Dosage Working Group","moderate evidence (06/15/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8261","Heritable Thoracic Aortic Aneurysm and Dissection","","",""
"FOXE3","HGNC:3808","https://search.clinicalgenome.org/kb/genes/HGNC:3808","anterior segment dysgenesis","MONDO:0019503","https://search.clinicalgenome.org/kb/conditions/MONDO:0019503","Mode of inheritance","0 - No Evidence for Haploinsufficiency (12/13/2017)","0 - No Evidence for Triplosensitivity (12/13/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3808","Dosage Working Group","moderate evidence (04/15/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3d96af7-fd6a-4c40-b9db-3c1cd1df17a3-2025-04-15T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"FOXF1","HGNC:3809","https://search.clinicalgenome.org/kb/genes/HGNC:3809","alveolar capillary dysplasia with misalignment of pulmonary veins","MONDO:0009934","https://search.clinicalgenome.org/kb/conditions/MONDO:0009934","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/20/2013)","0 - No Evidence for Triplosensitivity (06/20/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3809","Dosage Working Group","","","","","",""
"FOXG1","HGNC:3811","https://search.clinicalgenome.org/kb/genes/HGNC:3811","FOXG1 disorder","MONDO:0100040","https://search.clinicalgenome.org/kb/conditions/MONDO:0100040","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/09/2021)","0 - No Evidence for Triplosensitivity (03/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3811","Dosage Working Group","definitive evidence (07/02/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f14c6c5-b051-4c94-b9c6-3b80771eed22-2018-07-02T140827.839Z","Rett and Angelman-like Disorders","","",""
"FOXI1","HGNC:3815","https://search.clinicalgenome.org/kb/genes/HGNC:3815","enlarged vestibular aqueduct syndrome","MONDO:0023069","https://search.clinicalgenome.org/kb/conditions/MONDO:0023069","Autosomal recessive inheritance","","","","","disputing (02/27/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3a6b8fa-01d1-4f32-a45e-9c9582e14280-2018-02-27T170000.000Z","Hearing Loss","","",""
"FOXI1","HGNC:3815","https://search.clinicalgenome.org/kb/genes/HGNC:3815","hearing loss disorder","MONDO:0005365","https://search.clinicalgenome.org/kb/conditions/MONDO:0005365","Autosomal recessive inheritance","","","","","limited evidence (03/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0bb41557-8ccc-4084-b4b0-d4ede42d8f36-2022-03-16T160000.000Z","Hearing Loss","","",""
"FOXI3","HGNC:35123","https://search.clinicalgenome.org/kb/genes/HGNC:35123","T-cell immunodeficiency","MONDO:0003780","https://search.clinicalgenome.org/kb/conditions/MONDO:0003780","Autosomal dominant inheritance","","","","","limited evidence (08/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ecab1bd-32d4-49a4-9ed3-92d0d3290fd9-2025-08-21T160000.000Z","SCID-CID","","",""
"FOXJ1","HGNC:3816","https://search.clinicalgenome.org/kb/genes/HGNC:3816","ciliary dyskinesia, primary, 43","MONDO:0032874","https://search.clinicalgenome.org/kb/conditions/MONDO:0032874","Autosomal dominant inheritance","","","","","definitive evidence (10/17/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53a48f3c-42fc-4c60-becb-149019b1e4bf-2025-10-17T190000.000Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"FOXL1","HGNC:3817","https://search.clinicalgenome.org/kb/genes/HGNC:3817","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (11/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e6540a7-3e81-47b1-a74f-7d0328f34ce1-2023-11-27T170000.000Z","Congenital Heart Disease","","",""
"FOXL2","HGNC:1092","https://search.clinicalgenome.org/kb/genes/HGNC:1092","blepharophimosis, ptosis, and epicanthus inversus syndrome","MONDO:0007201","https://search.clinicalgenome.org/kb/conditions/MONDO:0007201","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/09/2021)","0 - No Evidence for Triplosensitivity (02/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1092","Dosage Working Group","","","","","",""
"FOXN1","HGNC:12765","https://search.clinicalgenome.org/kb/genes/HGNC:12765","T-cell immunodeficiency, congenital alopecia, and nail dystrophy","MONDO:0011132","https://search.clinicalgenome.org/kb/conditions/MONDO:0011132","Semidominant inheritance","","","","","definitive evidence (11/05/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4518c986-fb1d-4f9a-a24a-ab38891a0162-2021-11-05T181626.460Z","SCID-CID","","",""
"FOXP1","HGNC:3823","https://search.clinicalgenome.org/kb/genes/HGNC:3823","intellectual disability-severe speech delay-mild dysmorphism syndrome","MONDO:0013352","https://search.clinicalgenome.org/kb/conditions/MONDO:0013352","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/22/2020)","0 - No Evidence for Triplosensitivity (01/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3823","Dosage Working Group","definitive evidence (05/09/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db1c240c-7ffb-4a95-92ad-da9e8af2adc6-2019-05-09T162756.956Z","Intellectual Disability and Autism","","",""
"FOXP1","HGNC:3823","https://search.clinicalgenome.org/kb/genes/HGNC:3823","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/22/2020)","0 - No Evidence for Triplosensitivity (01/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3823","Dosage Working Group","disputing (12/11/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0d2a272-afc2-49df-aa73-0b2f82ce11d6-2023-12-11T170000.000Z","Congenital Heart Disease","","",""
"FOXP2","HGNC:13875","https://search.clinicalgenome.org/kb/genes/HGNC:13875","specific language disorder","MONDO:0016226","https://search.clinicalgenome.org/kb/conditions/MONDO:0016226","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/08/2025)","0 - No Evidence for Triplosensitivity (04/08/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13875","Dosage Working Group","definitive evidence (05/21/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b13348d1-1248-4507-aa29-60559e6b410e-2019-05-21T160000.000Z","Intellectual Disability and Autism","","",""
"FOXP3","HGNC:6106","https://search.clinicalgenome.org/kb/genes/HGNC:6106","immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome","MONDO:0010580","https://search.clinicalgenome.org/kb/conditions/MONDO:0010580","X-linked inheritance","","","","","definitive evidence (10/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5864049-7fe7-42dd-ba85-2a1f1fdf9d50-2023-10-10T190000.000Z","Prenatal","","",""
"FOXRED1","HGNC:26927","https://search.clinicalgenome.org/kb/genes/HGNC:26927","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26927","Dosage Working Group","moderate evidence (10/16/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c74ba0cb-ccef-4a19-9fef-ef9996f72290-2019-10-16T143453.574Z","Mitochondrial Diseases","","",""
"FOXRED1","HGNC:26927","https://search.clinicalgenome.org/kb/genes/HGNC:26927","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26927","Dosage Working Group","definitive evidence (08/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb90cbcf-435a-40fc-8ba8-d1c6314b4733-2023-08-21T160000.000Z","Mitochondrial Diseases","","",""
"FRAS1","HGNC:19185","https://search.clinicalgenome.org/kb/genes/HGNC:19185","Fraser syndrome","MONDO:0009046","https://search.clinicalgenome.org/kb/conditions/MONDO:0009046","Autosomal recessive inheritance","","","","","definitive evidence (10/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1303854d-356f-4295-85c3-ec2c6cbf6e4b-2022-10-11T160000.000Z","Congenital Anomalies of the Kidney and Urinary Tract","","",""
"FRMD7","HGNC:8079","https://search.clinicalgenome.org/kb/genes/HGNC:8079","nystagmus 1, congenital, X-linked","MONDO:0010693","https://search.clinicalgenome.org/kb/conditions/MONDO:0010693","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/09/2020)","0 - No Evidence for Triplosensitivity (04/09/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8079","Dosage Working Group","","","","","",""
"FRMPD4","HGNC:29007","https://search.clinicalgenome.org/kb/genes/HGNC:29007","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","","","","","definitive evidence (11/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdc39072-6ab1-4ec6-af69-ce7a2f874f1b-2022-11-02T160000.000Z","Intellectual Disability and Autism","","",""
"FRRS1L","HGNC:1362","https://search.clinicalgenome.org/kb/genes/HGNC:1362","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","","","","","definitive evidence (09/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_254975f0-b3ae-4838-909a-17db2e9faabc-2024-09-17T170000.000Z","Epilepsy","","",""
"FSHB","HGNC:3964","https://search.clinicalgenome.org/kb/genes/HGNC:3964","hypogonadotropic hypogonadism 24 without anosmia","MONDO:0009239","https://search.clinicalgenome.org/kb/conditions/MONDO:0009239","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3964","Dosage Working Group","","","","","",""
"FTCD","HGNC:3974","https://search.clinicalgenome.org/kb/genes/HGNC:3974","formiminoglutamic aciduria","MONDO:0009240","https://search.clinicalgenome.org/kb/conditions/MONDO:0009240","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3974","Dosage Working Group","","","","","",""
"FTH1","HGNC:3976","https://search.clinicalgenome.org/kb/genes/HGNC:3976","hemochromatosis type 5","MONDO:0014225","https://search.clinicalgenome.org/kb/conditions/MONDO:0014225","Autosomal dominant inheritance","","","","","limited evidence (08/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc52d02d-1b04-4add-8922-cd72fbe76867-2025-08-25T063000.000Z","General Inborn Errors of Metabolism","","",""
"FTH1","HGNC:3976","https://search.clinicalgenome.org/kb/genes/HGNC:3976","neurodegeneration with brain iron accumulation 9","MONDO:0958012","https://search.clinicalgenome.org/kb/conditions/MONDO:0958012","Autosomal dominant inheritance","","","","","moderate evidence (09/23/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32fde665-99c7-4034-8830-80c9558ccada-2025-09-23T063000.000Z","General Inborn Errors of Metabolism","","",""
"FTSJ1","HGNC:13254","https://search.clinicalgenome.org/kb/genes/HGNC:13254","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","2 - Emerging Evidence for Haploinsufficiency (03/22/2023)","0 - No Evidence for Triplosensitivity (03/22/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13254","Dosage Working Group","definitive evidence (02/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bc0312a-eb44-4d79-8816-d9ef685e2c8c-2023-02-01T170000.000Z","Intellectual Disability and Autism","","",""
"FTSJ1","HGNC:13254","https://search.clinicalgenome.org/kb/genes/HGNC:13254","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","N/A","2 - Emerging Evidence for Haploinsufficiency (03/22/2023)","0 - No Evidence for Triplosensitivity (03/22/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13254","Dosage Working Group","","","","","",""
"FUCA1","HGNC:4006","https://search.clinicalgenome.org/kb/genes/HGNC:4006","fucosidosis","MONDO:0009254","https://search.clinicalgenome.org/kb/conditions/MONDO:0009254","Autosomal recessive inheritance","","","","","definitive evidence (08/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e88e0ef6-e788-40e2-bbd4-7fb3efb6b0ea-2022-08-02T160000.000Z","Lysosomal Diseases GCEP","","",""
"FUS","HGNC:4010","https://search.clinicalgenome.org/kb/genes/HGNC:4010","amyotrophic lateral sclerosis type 6","MONDO:0011951","https://search.clinicalgenome.org/kb/conditions/MONDO:0011951","Autosomal dominant inheritance","","","","","definitive evidence (10/12/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2e8f55b-371e-438f-8923-73ca9b7ec034-2021-10-12T183601.087Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"FUT8","HGNC:4019","https://search.clinicalgenome.org/kb/genes/HGNC:4019","congenital disorder of glycosylation with defective fucosylation 1","MONDO:0020775","https://search.clinicalgenome.org/kb/conditions/MONDO:0020775","Autosomal recessive inheritance","","","","","definitive evidence (05/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a593a104-5904-461f-956b-ad1e154df921-2024-05-15T170000.000Z","Congenital Disorders of Glycosylation","","",""
"FXN","HGNC:3951","https://search.clinicalgenome.org/kb/genes/HGNC:3951","Friedreich ataxia","MONDO:0100339","https://search.clinicalgenome.org/kb/conditions/MONDO:0100339","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3951","Dosage Working Group","definitive evidence (12/22/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec3f674b-1e71-4254-a0f9-f8909becff59-2017-12-22T170000.000Z","Hypertrophic Cardiomyopathy","","",""
"FXN","HGNC:3951","https://search.clinicalgenome.org/kb/genes/HGNC:3951","Friedreich ataxia 1","MONDO:0100340","https://search.clinicalgenome.org/kb/conditions/MONDO:0100340","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3951","Dosage Working Group","","","","","",""
"FXYD2","HGNC:4026","https://search.clinicalgenome.org/kb/genes/HGNC:4026","renal hypomagnesemia 2","MONDO:0007937","https://search.clinicalgenome.org/kb/conditions/MONDO:0007937","Autosomal dominant inheritance","","","","","moderate evidence (06/29/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aef2e6fc-52d8-4077-a5c9-0f70bbebea36-2023-06-29T160000.000Z","Tubulopathy","","",""
"FYB1","HGNC:4036","https://search.clinicalgenome.org/kb/genes/HGNC:4036","thrombocytopenia 3","MONDO:0010120","https://search.clinicalgenome.org/kb/conditions/MONDO:0010120","Autosomal recessive inheritance","","","","","moderate evidence (02/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e4e83fb-516b-43f8-a0af-687b9d938f74-2024-02-05T170000.000Z","Hemostasis Thrombosis","","",""
"FYCO1","HGNC:14673","https://search.clinicalgenome.org/kb/genes/HGNC:14673","cataract 18","MONDO:0012395","https://search.clinicalgenome.org/kb/conditions/MONDO:0012395","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (05/20/2015)","0 - No Evidence for Triplosensitivity (05/20/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14673","Dosage Working Group","","","","","",""
"FZD4","HGNC:4042","https://search.clinicalgenome.org/kb/genes/HGNC:4042","FZD4-related exudative vitreoretinopathy","MONDO:1040041","https://search.clinicalgenome.org/kb/conditions/MONDO:1040041","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/25/2023)","0 - No Evidence for Triplosensitivity (01/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4042","Dosage Working Group","definitive evidence (04/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2da74e15-54c4-405c-aa44-301f4717087d-2024-04-04T160000.000Z","Retina","","",""
"FZD4","HGNC:4042","https://search.clinicalgenome.org/kb/genes/HGNC:4042","exudative vitreoretinopathy 1","MONDO:0007589","https://search.clinicalgenome.org/kb/conditions/MONDO:0007589","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/25/2023)","0 - No Evidence for Triplosensitivity (01/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4042","Dosage Working Group","","","","","",""
"G6PC1","HGNC:4056","https://search.clinicalgenome.org/kb/genes/HGNC:4056","glycogen storage disease I","MONDO:0002413","https://search.clinicalgenome.org/kb/conditions/MONDO:0002413","Autosomal recessive inheritance","","","","","definitive evidence (09/27/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_951fef4e-a9ac-400c-b94a-5d6531086d9f-2024-09-27T160000.000Z","General Inborn Errors of Metabolism","","",""
"G6PC3","HGNC:24861","https://search.clinicalgenome.org/kb/genes/HGNC:24861","autosomal recessive severe congenital neutropenia due to G6PC3 deficiency","MONDO:0012930","https://search.clinicalgenome.org/kb/conditions/MONDO:0012930","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/30/2020)","0 - No Evidence for Triplosensitivity (04/30/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24861","Dosage Working Group","definitive evidence (08/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff1ec187-3779-4437-b17b-fa406fafc406-2024-08-07T170000.000Z","Congenital Disorders of Glycosylation","","",""
"G6PD","HGNC:4057","https://search.clinicalgenome.org/kb/genes/HGNC:4057","anemia, nonspherocytic hemolytic, due to G6PD deficiency","MONDO:0010480","https://search.clinicalgenome.org/kb/conditions/MONDO:0010480","X-linked inheritance","","","","","definitive evidence (06/23/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cb70a1c4-e861-4c45-adc6-9afc82f4a7a0-2023-06-23T160000.000Z","General Inborn Errors of Metabolism","Moderate Actionability (08/18/2021) | Moderate Actionability (08/18/2021)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1043 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1043"," | "
"G6PD","HGNC:4057","https://search.clinicalgenome.org/kb/genes/HGNC:4057","G6PD deficiency","MONDO:0005775","https://search.clinicalgenome.org/kb/conditions/MONDO:0005775","X-linked inheritance","","","","","definitive evidence (06/23/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_153ae203-3ae5-4cb3-bbf8-d72467700d8c-2023-06-23T160000.000Z","General Inborn Errors of Metabolism","Moderate Actionability (08/18/2021) | Moderate Actionability (08/18/2021)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1043 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1043"," | "
"G6PD","HGNC:4057","https://search.clinicalgenome.org/kb/genes/HGNC:4057","favism","MONDO:0001761","https://search.clinicalgenome.org/kb/conditions/MONDO:0001761","N/A","","","","","","","","Moderate Actionability (08/18/2021) | Moderate Actionability (08/18/2021)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1043 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1043"," | "
"GAA","HGNC:4065","https://search.clinicalgenome.org/kb/genes/HGNC:4065","glycogen storage disease II","MONDO:0009290","https://search.clinicalgenome.org/kb/conditions/MONDO:0009290","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4065","Dosage Working Group","definitive evidence (01/23/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0554320e-6a8f-4c39-be7f-99959a8341ee-2019-01-23T170000.000Z","General Gene Curation","Strong Actionability (05/12/2023) | Moderate Actionability (05/12/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC090 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC090"," | "
"GAA","HGNC:4065","https://search.clinicalgenome.org/kb/genes/HGNC:4065","glycogen storage disease due to acid maltase deficiency, late-onset","MONDO:0018485","https://search.clinicalgenome.org/kb/conditions/MONDO:0018485","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4065","Dosage Working Group","","","","Strong Actionability (05/12/2023) | Moderate Actionability (05/12/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC090 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC090"," | "
"GAA","HGNC:4065","https://search.clinicalgenome.org/kb/genes/HGNC:4065","glycogen storage disease due to acid maltase deficiency, infantile onset","MONDO:0017694","https://search.clinicalgenome.org/kb/conditions/MONDO:0017694","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4065","Dosage Working Group","","","","Strong Actionability (05/12/2023) | Moderate Actionability (05/12/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC090 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC090"," | "
"GABBR2","HGNC:4507","https://search.clinicalgenome.org/kb/genes/HGNC:4507","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","moderate evidence (11/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_563863fd-cdfa-452c-af03-715b3696670d-2024-11-19T180000.000Z","Epilepsy","","",""
"GABRA1","HGNC:4075","https://search.clinicalgenome.org/kb/genes/HGNC:4075","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (11/09/2021)","0 - No Evidence for Triplosensitivity (11/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4075","Dosage Working Group","definitive evidence (09/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60478d36-384e-4246-ba8a-730755d6f216-2024-09-03T170000.000Z","Epilepsy","","",""
"GABRA1","HGNC:4075","https://search.clinicalgenome.org/kb/genes/HGNC:4075","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (11/09/2021)","0 - No Evidence for Triplosensitivity (11/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4075","Dosage Working Group","","","","","",""
"GABRB1","HGNC:4081","https://search.clinicalgenome.org/kb/genes/HGNC:4081","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","","","","","limited evidence (08/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a4d0857b-2ee6-4664-ae52-d6cb9aaaf73c-2024-08-06T170000.000Z","Epilepsy","","",""
"GABRB2","HGNC:4082","https://search.clinicalgenome.org/kb/genes/HGNC:4082","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (01/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5589d3aa-cb45-4b9f-bf8e-2000d1a780bd-2024-01-16T050000.000Z","Intellectual Disability and Autism","","",""
"GABRB3","HGNC:4083","https://search.clinicalgenome.org/kb/genes/HGNC:4083","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (04/25/2012)","0 - No Evidence for Triplosensitivity (04/25/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4083","Dosage Working Group","definitive evidence (02/05/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9327dac-6f76-4881-8a23-ef2b210f92e7-2019-02-05T170000.000Z","Epilepsy","","",""
"GABRD","HGNC:4084","https://search.clinicalgenome.org/kb/genes/HGNC:4084","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","moderate evidence (07/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c112d0b-91a0-4ba3-b3d6-d36eadddd5ee-2023-07-18T190000.000Z","Epilepsy","","",""
"GABRD","HGNC:4084","https://search.clinicalgenome.org/kb/genes/HGNC:4084","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","","","","","limited evidence (07/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64f743b4-408d-40d6-855b-ef9d67fc172e-2023-07-18T190000.000Z","Epilepsy","","",""
"GABRG2","HGNC:4087","https://search.clinicalgenome.org/kb/genes/HGNC:4087","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (09/25/2018)","0 - No Evidence for Triplosensitivity (09/25/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4087","Dosage Working Group","definitive evidence (01/21/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a3176e9-ac0c-41fe-ae40-0750726c33d8-2020-01-21T170000.000Z","Epilepsy","","",""
"GAD1","HGNC:4092","https://search.clinicalgenome.org/kb/genes/HGNC:4092","obsolete early infantile epileptic encephalopathy","MONDO:0016021","https://search.clinicalgenome.org/kb/conditions/MONDO:0016021","Autosomal recessive inheritance","","","","","definitive evidence (05/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20fdee08-81b0-4957-a18a-8f622e0ab054-2021-05-13T152239.014Z","Aminoacidopathy","","",""
"GALC","HGNC:4115","https://search.clinicalgenome.org/kb/genes/HGNC:4115","Krabbe disease","MONDO:0009499","https://search.clinicalgenome.org/kb/conditions/MONDO:0009499","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4115","Dosage Working Group","definitive evidence (06/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d17202fb-89c4-4bf6-ad57-4b8c541dc808-2022-06-15T160000.000Z","Lysosomal Diseases GCEP","","",""
"GALE","HGNC:4116","https://search.clinicalgenome.org/kb/genes/HGNC:4116","galactose epimerase deficiency","MONDO:0009257","https://search.clinicalgenome.org/kb/conditions/MONDO:0009257","Autosomal recessive inheritance","","","","","definitive evidence (09/29/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab7f5785-45a0-47dd-b646-6792c901d2d8-2023-09-29T160000.000Z","General Inborn Errors of Metabolism","","",""
"GALK1","HGNC:4118","https://search.clinicalgenome.org/kb/genes/HGNC:4118","galactokinase deficiency","MONDO:0009255","https://search.clinicalgenome.org/kb/conditions/MONDO:0009255","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4118","Dosage Working Group","definitive evidence (09/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ecd4568c-966e-4ac3-b3d2-b4ac119a7d80-2021-09-30T161317.166Z","General Inborn Errors of Metabolism","","",""
"GALM","HGNC:24063","https://search.clinicalgenome.org/kb/genes/HGNC:24063","galactosemia 4","MONDO:0030105","https://search.clinicalgenome.org/kb/conditions/MONDO:0030105","Autosomal recessive inheritance","","","","","strong evidence (12/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21ee674a-b133-46e5-be96-d3533bc6ed61-2023-12-19T200000.000Z","General Inborn Errors of Metabolism","","",""
"GALNS","HGNC:4122","https://search.clinicalgenome.org/kb/genes/HGNC:4122","mucopolysaccharidosis type 4A","MONDO:0009659","https://search.clinicalgenome.org/kb/conditions/MONDO:0009659","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4122","Dosage Working Group","definitive evidence (06/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c58d08e9-dc6d-45fc-a21a-54be3bc438d9-2022-06-16T040000.000Z","Lysosomal Diseases GCEP","Has Insufficient Evidence for Actionability Based on Early Rule-out (11/25/2019) | Moderate Actionability (05/20/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1010 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1010"," | "
"GALNT12","HGNC:19877","https://search.clinicalgenome.org/kb/genes/HGNC:19877","colorectal cancer, susceptibility to, 1","MONDO:0012132","https://search.clinicalgenome.org/kb/conditions/MONDO:0012132","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (09/09/2019)","0 - No Evidence for Triplosensitivity (09/09/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19877","Dosage Working Group","limited evidence (06/08/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8435","Colon Cancer","","",""
"GALNT2","HGNC:4124","https://search.clinicalgenome.org/kb/genes/HGNC:4124","congenital disorder of glycosylation, type iit","MONDO:0030043","https://search.clinicalgenome.org/kb/conditions/MONDO:0030043","Autosomal recessive inheritance","","","","","strong evidence (02/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8107f647-e731-44f5-ba38-46e648febab1-2024-02-06T170000.000Z","Congenital Disorders of Glycosylation","","",""
"GALNT3","HGNC:4125","https://search.clinicalgenome.org/kb/genes/HGNC:4125","tumoral calcinosis, hyperphosphatemic, familial, 1","MONDO:0100252","https://search.clinicalgenome.org/kb/conditions/MONDO:0100252","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4125","Dosage Working Group","definitive evidence (02/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7bc60daf-72c4-4a3f-9d1c-96bffd8a9bc9-2024-02-06T170000.000Z","Congenital Disorders of Glycosylation","","",""
"GALT","HGNC:4135","https://search.clinicalgenome.org/kb/genes/HGNC:4135","classic galactosemia","MONDO:0009258","https://search.clinicalgenome.org/kb/conditions/MONDO:0009258","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4135","Dosage Working Group","","","","","",""
"GAMT","HGNC:4136","https://search.clinicalgenome.org/kb/genes/HGNC:4136","guanidinoacetate methyltransferase deficiency","MONDO:0012999","https://search.clinicalgenome.org/kb/conditions/MONDO:0012999","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4136","Dosage Working Group","definitive evidence (01/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0a84d45-57f8-4763-b1c5-7a283cef5f71-2019-01-25T170000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/19/2022) | Moderate Actionability (11/28/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1037 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1037"," | "
"GAMT","HGNC:4136","https://search.clinicalgenome.org/kb/genes/HGNC:4136","cerebral creatine deficiency syndrome","MONDO:0000456","https://search.clinicalgenome.org/kb/conditions/MONDO:0000456","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4136","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/19/2022) | Moderate Actionability (11/28/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1037 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1037"," | "
"GAMT","HGNC:4136","https://search.clinicalgenome.org/kb/genes/HGNC:4136","creatine biosynthetic process disease","MONDO:0045018","https://search.clinicalgenome.org/kb/conditions/MONDO:0045018","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4136","Dosage Working Group","","","","Moderate Actionability (11/28/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1037",""
"GAN","HGNC:4137","https://search.clinicalgenome.org/kb/genes/HGNC:4137","giant axonal neuropathy 1","MONDO:0009749","https://search.clinicalgenome.org/kb/conditions/MONDO:0009749","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4137","Dosage Working Group","definitive evidence (02/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9f65afa-5cb1-457e-abff-ab110145a32d-2022-02-10T021239.651Z","Charcot-Marie-Tooth","","",""
"GANAB","HGNC:4138","https://search.clinicalgenome.org/kb/genes/HGNC:4138","polycystic kidney disease 3 with or without polycystic liver disease","MONDO:0010916","https://search.clinicalgenome.org/kb/conditions/MONDO:0010916","Autosomal dominant inheritance","","","","","definitive evidence (09/09/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6392961-a64a-4818-903a-0bf88b32e736-2020-09-09T160000.000Z","Kidney Cystic and Ciliopathy Disorders","Moderate Actionability (11/05/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC037",""
"GANAB","HGNC:4138","https://search.clinicalgenome.org/kb/genes/HGNC:4138","autosomal dominant polycystic kidney disease","MONDO:0004691","https://search.clinicalgenome.org/kb/conditions/MONDO:0004691","N/A","","","","","","","","Moderate Actionability (11/05/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC037",""
"GARS1","HGNC:4162","https://search.clinicalgenome.org/kb/genes/HGNC:4162","Charcot-Marie-Tooth disease type 2D","MONDO:0011091","https://search.clinicalgenome.org/kb/conditions/MONDO:0011091","Autosomal dominant inheritance","","","","","definitive evidence (01/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_168242d1-ef2e-486a-a45a-ed96187bd4d2-2023-01-10T170000.000Z","Charcot-Marie-Tooth","","",""
"GAS1","HGNC:4165","https://search.clinicalgenome.org/kb/genes/HGNC:4165","holoprosencephaly","MONDO:0016296","https://search.clinicalgenome.org/kb/conditions/MONDO:0016296","Autosomal dominant inheritance","","","","","limited evidence (01/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cd8c663-391d-4f50-812b-9daae61c8fd4-2023-01-10T170000.000Z","Brain Malformations","","",""
"GAS2L2","HGNC:24846","https://search.clinicalgenome.org/kb/genes/HGNC:24846","ciliary dyskinesia, primary, 41","MONDO:0032757","https://search.clinicalgenome.org/kb/conditions/MONDO:0032757","Autosomal recessive inheritance","","","","","moderate evidence (09/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91afae37-4cfc-4aeb-af0f-26a9596611f3-2023-09-14T160000.000Z","Motile Ciliopathy GCEP","","",""
"GATA1","HGNC:4170","https://search.clinicalgenome.org/kb/genes/HGNC:4170","GATA1-Related X-Linked Cytopenia","MONDO:0100089","https://search.clinicalgenome.org/kb/conditions/MONDO:0100089","X-linked inheritance","0 - No Evidence for Haploinsufficiency (10/14/2020)","0 - No Evidence for Triplosensitivity (10/14/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4170","Dosage Working Group","definitive evidence (05/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad980194-b275-4bbb-b3df-73c1a50d3eac-2020-05-27T040000.000Z","Hemostasis Thrombosis","","",""
"GATA2","HGNC:4171","https://search.clinicalgenome.org/kb/genes/HGNC:4171","GATA2 deficiency with susceptibility to MDS/AML","MONDO:0042982","https://search.clinicalgenome.org/kb/conditions/MONDO:0042982","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/12/2023)","0 - No Evidence for Triplosensitivity (04/12/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4171","Dosage Working Group","definitive evidence (12/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c0449f7-e20b-4610-95ad-896eee265492-2022-12-30T180000.000Z","Hereditary Cancer","","",""
"GATA2","HGNC:4171","https://search.clinicalgenome.org/kb/genes/HGNC:4171","deafness-lymphedema-leukemia syndrome","MONDO:0013540","https://search.clinicalgenome.org/kb/conditions/MONDO:0013540","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/12/2023)","0 - No Evidence for Triplosensitivity (04/12/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4171","Dosage Working Group","","","","","",""
"GATA3","HGNC:4172","https://search.clinicalgenome.org/kb/genes/HGNC:4172","hypoparathyroidism-deafness-renal disease syndrome","MONDO:0007797","https://search.clinicalgenome.org/kb/conditions/MONDO:0007797","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/24/2020)","0 - No Evidence for Triplosensitivity (06/24/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4172","Dosage Working Group","definitive evidence (06/18/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afb6e0d5-81a5-439a-a498-9edc8505a367-2019-06-18T160000.000Z","Hearing Loss","","",""
"GATA4","HGNC:4173","https://search.clinicalgenome.org/kb/genes/HGNC:4173","structural congenital heart disease, multiple types - GATA4","MONDO:0100009","https://search.clinicalgenome.org/kb/conditions/MONDO:0100009","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/08/2017)","0 - No Evidence for Triplosensitivity (02/08/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4173","Dosage Working Group","definitive evidence (02/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_005cf235-4d8d-4f12-9e75-59d3f7c4d933-2023-02-07T170000.000Z","Congenital Heart Disease","","",""
"GATA4","HGNC:4173","https://search.clinicalgenome.org/kb/genes/HGNC:4173","atrial septal defect 2","MONDO:0011938","https://search.clinicalgenome.org/kb/conditions/MONDO:0011938","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/08/2017)","0 - No Evidence for Triplosensitivity (02/08/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4173","Dosage Working Group","","","","","",""
"GATA6","HGNC:4174","https://search.clinicalgenome.org/kb/genes/HGNC:4174","GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes","MONDO:0100540","https://search.clinicalgenome.org/kb/conditions/MONDO:0100540","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/20/2013)","0 - No Evidence for Triplosensitivity (06/20/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4174","Dosage Working Group","definitive evidence (11/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7a0fdd7-f796-4921-95b6-709fd859b6d3-2023-11-21T170000.000Z","Congenital Heart Disease","","",""
"GATA6","HGNC:4174","https://search.clinicalgenome.org/kb/genes/HGNC:4174","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/20/2013)","0 - No Evidence for Triplosensitivity (06/20/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4174","Dosage Working Group","no known disease relationship (12/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0153e88-f3f1-4767-b325-f245ec2f907d-2024-12-13T170000.000Z","Dilated Cardiomyopathy","","",""
"GATA6","HGNC:4174","https://search.clinicalgenome.org/kb/genes/HGNC:4174","pancreatic hypoplasia-diabetes-congenital heart disease syndrome","MONDO:0010802","https://search.clinicalgenome.org/kb/conditions/MONDO:0010802","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/20/2013)","0 - No Evidence for Triplosensitivity (06/20/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4174","Dosage Working Group","","","","","",""
"GATAD1","HGNC:29941","https://search.clinicalgenome.org/kb/genes/HGNC:29941","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29941","Dosage Working Group","limited evidence (08/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56933afb-863f-46f5-884d-17522adb31a8-2024-08-07T160000.000Z","Dilated Cardiomyopathy","","",""
"GATAD1","HGNC:29941","https://search.clinicalgenome.org/kb/genes/HGNC:29941","dilated cardiomyopathy 2B","MONDO:0013848","https://search.clinicalgenome.org/kb/conditions/MONDO:0013848","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29941","Dosage Working Group","","","","","",""
"GATAD2B","HGNC:30778","https://search.clinicalgenome.org/kb/genes/HGNC:30778","severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome","MONDO:0014034","https://search.clinicalgenome.org/kb/conditions/MONDO:0014034","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/27/2017)","0 - No Evidence for Triplosensitivity (12/27/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30778","Dosage Working Group","definitive evidence (02/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fb40641-ec79-4fee-9111-d38d2062c15b-2022-02-01T170000.000Z","Intellectual Disability and Autism","","",""
"GATM","HGNC:4175","https://search.clinicalgenome.org/kb/genes/HGNC:4175","AGAT deficiency","MONDO:0012996","https://search.clinicalgenome.org/kb/conditions/MONDO:0012996","Autosomal recessive inheritance","","","","","definitive evidence (03/08/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d63bfeff-882d-400f-af17-277a702fd09b-2019-03-08T170000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/19/2022) | Moderate Actionability (11/28/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1037 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1037"," | "
"GATM","HGNC:4175","https://search.clinicalgenome.org/kb/genes/HGNC:4175","cerebral creatine deficiency syndrome","MONDO:0000456","https://search.clinicalgenome.org/kb/conditions/MONDO:0000456","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/19/2022) | Moderate Actionability (11/28/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1037 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1037"," | "
"GATM","HGNC:4175","https://search.clinicalgenome.org/kb/genes/HGNC:4175","creatine biosynthetic process disease","MONDO:0045018","https://search.clinicalgenome.org/kb/conditions/MONDO:0045018","N/A","","","","","","","","Moderate Actionability (11/28/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1037",""
"GBA1","HGNC:4177","https://search.clinicalgenome.org/kb/genes/HGNC:4177","Gaucher disease","MONDO:0018150","https://search.clinicalgenome.org/kb/conditions/MONDO:0018150","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4177","Dosage Working Group","definitive evidence (06/24/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbc5a876-f97e-4f9c-be99-664e2f6c8470-2020-06-24T160000.000Z","General Gene Curation","Strong Actionability (12/08/2022) | Definitive Actionability (12/08/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC104 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC104"," | "
"GBA1","HGNC:4177","https://search.clinicalgenome.org/kb/genes/HGNC:4177","Parkinson disease","MONDO:0005180","https://search.clinicalgenome.org/kb/conditions/MONDO:0005180","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4177","Dosage Working Group","definitive evidence (05/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9201c03f-10de-447c-9b84-194f14b549b6-2022-05-03T134810.206Z","Parkinson's Disease","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"GBA1","HGNC:4177","https://search.clinicalgenome.org/kb/genes/HGNC:4177","Gaucher disease type I","MONDO:0009265","https://search.clinicalgenome.org/kb/conditions/MONDO:0009265","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4177","Dosage Working Group","","","","Strong Actionability (12/08/2022) | Definitive Actionability (12/08/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC104 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC104"," | "
"GBA1","HGNC:4177","https://search.clinicalgenome.org/kb/genes/HGNC:4177","Gaucher disease type III","MONDO:0009267","https://search.clinicalgenome.org/kb/conditions/MONDO:0009267","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4177","Dosage Working Group","","","","Definitive Actionability (12/08/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC104",""
"GBA1","HGNC:4177","https://search.clinicalgenome.org/kb/genes/HGNC:4177","Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome","MONDO:0009268","https://search.clinicalgenome.org/kb/conditions/MONDO:0009268","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4177","Dosage Working Group","","","","Definitive Actionability (12/08/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC104",""
"GBA1","HGNC:4177","https://search.clinicalgenome.org/kb/genes/HGNC:4177","Gaucher disease perinatal lethal","MONDO:0011945","https://search.clinicalgenome.org/kb/conditions/MONDO:0011945","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4177","Dosage Working Group","","","","Definitive Actionability (12/08/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC104",""
"GBA1","HGNC:4177","https://search.clinicalgenome.org/kb/genes/HGNC:4177","Gaucher disease type II","MONDO:0009266","https://search.clinicalgenome.org/kb/conditions/MONDO:0009266","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4177","Dosage Working Group","","","","Definitive Actionability (12/08/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC104",""
"GBA1","HGNC:4177","https://search.clinicalgenome.org/kb/genes/HGNC:4177","late-onset Parkinson disease","MONDO:0008199","https://search.clinicalgenome.org/kb/conditions/MONDO:0008199","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4177","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"GBA1","HGNC:4177","https://search.clinicalgenome.org/kb/genes/HGNC:4177","obsolete hereditary late onset Parkinson disease","MONDO:0018466","https://search.clinicalgenome.org/kb/conditions/MONDO:0018466","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4177","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"GBA2","HGNC:18986","https://search.clinicalgenome.org/kb/genes/HGNC:18986","complex hereditary spastic paraplegia","MONDO:0015150","https://search.clinicalgenome.org/kb/conditions/MONDO:0015150","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18986","Dosage Working Group","definitive evidence (05/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ecc960c-5410-4ad8-ab77-bca41145f5e2-2024-05-02T160000.000Z","Cerebral Palsy","","",""
"GBA2","HGNC:18986","https://search.clinicalgenome.org/kb/genes/HGNC:18986","hereditary spastic paraplegia 46","MONDO:0013737","https://search.clinicalgenome.org/kb/conditions/MONDO:0013737","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18986","Dosage Working Group","","","","","",""
"GBE1","HGNC:4180","https://search.clinicalgenome.org/kb/genes/HGNC:4180","glycogen storage disease due to glycogen branching enzyme deficiency","MONDO:0009292","https://search.clinicalgenome.org/kb/conditions/MONDO:0009292","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4180","Dosage Working Group","definitive evidence (09/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f01d412-0f6d-4a0f-88db-b55b2af4a0a2-2023-09-21T160000.000Z","Prenatal","","",""
"GCDH","HGNC:4189","https://search.clinicalgenome.org/kb/genes/HGNC:4189","glutaryl-CoA dehydrogenase deficiency","MONDO:0009281","https://search.clinicalgenome.org/kb/conditions/MONDO:0009281","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4189","Dosage Working Group","definitive evidence (11/08/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33a2c95e-a057-4b93-b97e-27b6597516e5-2019-11-08T170000.000Z","Aminoacidopathy","Moderate Actionability (09/19/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC142",""
"GCH1","HGNC:4193","https://search.clinicalgenome.org/kb/genes/HGNC:4193","GTP cyclohydrolase I deficiency","MONDO:0100184","https://search.clinicalgenome.org/kb/conditions/MONDO:0100184","Semidominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/14/2023)","0 - No Evidence for Triplosensitivity (02/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4193","Dosage Working Group","definitive evidence (12/11/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed6c1e6c-5856-48aa-aa8f-47328e6b09eb-2020-12-11T200937.286Z","Aminoacidopathy","","",""
"GCH1","HGNC:4193","https://search.clinicalgenome.org/kb/genes/HGNC:4193","dystonia 5","MONDO:0007495","https://search.clinicalgenome.org/kb/conditions/MONDO:0007495","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/14/2023)","0 - No Evidence for Triplosensitivity (02/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4193","Dosage Working Group","","","","Strong Actionability (01/15/2025) | Strong Actionability (01/15/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC128 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC128"," | "
"GCH1","HGNC:4193","https://search.clinicalgenome.org/kb/genes/HGNC:4193","dopa-responsive dystonia","MONDO:0016812","https://search.clinicalgenome.org/kb/conditions/MONDO:0016812","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/14/2023)","0 - No Evidence for Triplosensitivity (02/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4193","Dosage Working Group","","","","Strong Actionability (01/15/2025) | Strong Actionability (01/15/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC128 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC128"," | "
"GCH1","HGNC:4193","https://search.clinicalgenome.org/kb/genes/HGNC:4193","autosomal dominant dopa-responsive dystonia","MONDO:0971063","https://search.clinicalgenome.org/kb/conditions/MONDO:0971063","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/14/2023)","0 - No Evidence for Triplosensitivity (02/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4193","Dosage Working Group","","","","Strong Actionability (01/15/2025) | Strong Actionability (01/15/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC128 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC128"," | "
"GCK","HGNC:4195","https://search.clinicalgenome.org/kb/genes/HGNC:4195","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/22/2025)","0 - No Evidence for Triplosensitivity (10/22/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4195","Dosage Working Group","definitive evidence (05/13/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7291ae0-3356-4c7b-832a-edae5176739f-2020-05-13T160000.000Z","Monogenic Diabetes","","",""
"GCSH","HGNC:4208","https://search.clinicalgenome.org/kb/genes/HGNC:4208","glycine encephalopathy","MONDO:0011612","https://search.clinicalgenome.org/kb/conditions/MONDO:0011612","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4208","Dosage Working Group","strong evidence (02/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d360db9d-24e7-415e-b4bc-59a2c6231189-2023-02-10T170000.000Z","Aminoacidopathy","","",""
"GDAP1","HGNC:15968","https://search.clinicalgenome.org/kb/genes/HGNC:15968","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Semidominant inheritance","","","","","definitive evidence (07/28/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6d93637-02f5-4f5d-b7a9-17356f084149-2020-07-28T144211.873Z","Charcot-Marie-Tooth","","",""
"GDAP2","HGNC:18010","https://search.clinicalgenome.org/kb/genes/HGNC:18010","spinocerebellar ataxia, autosomal recessive 27","MONDO:0032706","https://search.clinicalgenome.org/kb/conditions/MONDO:0032706","Autosomal recessive inheritance","","","","","strong evidence (12/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1126fa6f-92b9-46c9-8967-b11a388e62b0-2024-12-11T170000.000Z","Cerebellar Ataxia","","",""
"GDF2","HGNC:4217","https://search.clinicalgenome.org/kb/genes/HGNC:4217","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/13/2016)","0 - No Evidence for Triplosensitivity (10/13/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4217","Dosage Working Group","definitive evidence (05/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d2e83fa-0af1-450f-af9c-5c61d4bc3106-2022-05-26T221514.154Z","Pulmonary Hypertension","","",""
"GDF2","HGNC:4217","https://search.clinicalgenome.org/kb/genes/HGNC:4217","telangiectasia, hereditary hemorrhagic, type 5","MONDO:0014217","https://search.clinicalgenome.org/kb/conditions/MONDO:0014217","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/13/2016)","0 - No Evidence for Triplosensitivity (10/13/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4217","Dosage Working Group","moderate evidence (04/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00608fb7-3483-495a-8f9e-76aabb4b1dc0-2023-04-03T160000.000Z","Hemostasis Thrombosis","","",""
"GDF5","HGNC:4220","https://search.clinicalgenome.org/kb/genes/HGNC:4220","brachydactyly type C","MONDO:0007221","https://search.clinicalgenome.org/kb/conditions/MONDO:0007221","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/24/2021)","0 - No Evidence for Triplosensitivity (02/24/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4220","Dosage Working Group","","","","","",""
"GDI1","HGNC:4226","https://search.clinicalgenome.org/kb/genes/HGNC:4226","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (06/22/2022)","0 - No Evidence for Triplosensitivity (06/22/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4226","Dosage Working Group","moderate evidence (04/26/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8afc42b0-6c5e-460b-87d1-035c051fe7ca-2023-04-26T220000.000Z","Intellectual Disability and Autism","","",""
"GDI1","HGNC:4226","https://search.clinicalgenome.org/kb/genes/HGNC:4226","intellectual disability, X-linked 41","MONDO:0010451","https://search.clinicalgenome.org/kb/conditions/MONDO:0010451","N/A","1 - Little Evidence for Haploinsufficiency (06/22/2022)","0 - No Evidence for Triplosensitivity (06/22/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4226","Dosage Working Group","","","","","",""
"GEMIN5","HGNC:20043","https://search.clinicalgenome.org/kb/genes/HGNC:20043","neurodevelopmental disorder with cerebellar atrophy and motor dysfunction","MONDO:0859152","https://search.clinicalgenome.org/kb/conditions/MONDO:0859152","Autosomal recessive inheritance","","","","","definitive evidence (09/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51809985-ee18-429f-b804-96e7decb3d08-2023-09-06T160000.000Z","Syndromic Disorders","","",""
"GEN1","HGNC:26881","https://search.clinicalgenome.org/kb/genes/HGNC:26881","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","40 - Dosage Sensitivity Unlikely for Haploinsufficiency (02/02/2021)","0 - No Evidence for Triplosensitivity (02/02/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26881","Dosage Working Group","no known disease relationship (01/11/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8692","Breast/Ovarian Cancer","","",""
"GEN1","HGNC:26881","https://search.clinicalgenome.org/kb/genes/HGNC:26881","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","40 - Dosage Sensitivity Unlikely for Haploinsufficiency (02/02/2021)","0 - No Evidence for Triplosensitivity (02/02/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26881","Dosage Working Group","refuting evidence (12/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8a2aec0-413b-41f2-ba51-e8a71e52cf1a-2023-12-21T180000.000Z","Hereditary Cancer","","",""
"GET3","HGNC:752","https://search.clinicalgenome.org/kb/genes/HGNC:752","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","limited evidence (05/02/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_605f9805-5af1-445a-911a-d31ebff15125-2025-05-02T160000.000Z","Dilated Cardiomyopathy","","",""
"GFAP","HGNC:4235","https://search.clinicalgenome.org/kb/genes/HGNC:4235","Alexander disease","MONDO:0008752","https://search.clinicalgenome.org/kb/conditions/MONDO:0008752","Autosomal dominant inheritance","","","","","definitive evidence (01/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1da6d658-360e-4097-95a9-0b6838638e31-2024-01-10T170000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"GFER","HGNC:4236","https://search.clinicalgenome.org/kb/genes/HGNC:4236","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4236","Dosage Working Group","definitive evidence (09/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_494b0327-da1a-4b06-9563-2b846ce561a3-2023-09-28T040000.000Z","Mitochondrial Diseases","","",""
"GFER","HGNC:4236","https://search.clinicalgenome.org/kb/genes/HGNC:4236","congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome","MONDO:0013116","https://search.clinicalgenome.org/kb/conditions/MONDO:0013116","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4236","Dosage Working Group","","","","","",""
"GFI1B","HGNC:4238","https://search.clinicalgenome.org/kb/genes/HGNC:4238","platelet-type bleeding disorder 17","MONDO:0008553","https://search.clinicalgenome.org/kb/conditions/MONDO:0008553","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (08/27/2025)","0 - No Evidence for Triplosensitivity (08/27/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4238","Dosage Working Group","definitive evidence (11/27/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62841ea9-5bd8-4250-ab41-31d7cf82d2e3-2019-11-27T170000.000Z","Hemostasis Thrombosis","","",""
"GFM1","HGNC:13780","https://search.clinicalgenome.org/kb/genes/HGNC:13780","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13780","Dosage Working Group","moderate evidence (12/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_154a8f96-7062-49c7-9aaa-b23a98655f40-2019-12-19T185108.232Z","Mitochondrial Diseases","","",""
"GFM1","HGNC:13780","https://search.clinicalgenome.org/kb/genes/HGNC:13780","hepatoencephalopathy due to combined oxidative phosphorylation defect type 1","MONDO:0012191","https://search.clinicalgenome.org/kb/conditions/MONDO:0012191","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13780","Dosage Working Group","","","","","",""
"GFM2","HGNC:29682","https://search.clinicalgenome.org/kb/genes/HGNC:29682","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (12/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0736b760-ca37-4d0a-93a4-c71bbb8cd41a-2019-12-19T185449.252Z","Mitochondrial Diseases","","",""
"GFPT1","HGNC:4241","https://search.clinicalgenome.org/kb/genes/HGNC:4241","congenital myasthenic syndrome 12","MONDO:0012518","https://search.clinicalgenome.org/kb/conditions/MONDO:0012518","Autosomal recessive inheritance","","","","","definitive evidence (07/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8f8af21-a5dc-41aa-9bd3-b38c3a98d55c-2024-07-03T160000.000Z","Congenital Disorders of Glycosylation","","",""
"GFUS","HGNC:12390","https://search.clinicalgenome.org/kb/genes/HGNC:12390","congenital disorder of glycosylation","MONDO:0015286","https://search.clinicalgenome.org/kb/conditions/MONDO:0015286","Autosomal recessive inheritance","","","","","limited evidence (08/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e0c344b-23cd-4a66-92ea-660cde8af203-2025-08-07T160000.000Z","Congenital Disorders of Glycosylation","","",""
"GGCX","HGNC:4247","https://search.clinicalgenome.org/kb/genes/HGNC:4247","vitamin K-dependent clotting factors, combined deficiency of, type 1","MONDO:0010187","https://search.clinicalgenome.org/kb/conditions/MONDO:0010187","Autosomal recessive inheritance","","","","","definitive evidence (02/24/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_87ceae1d-b329-4c29-b6f2-8a94a127204e-2021-02-24T175200.635Z","Hemostasis Thrombosis","","",""
"GGCX","HGNC:4247","https://search.clinicalgenome.org/kb/genes/HGNC:4247","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","moderate evidence (09/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ac82a47-d6c3-4cbb-ae29-b6044a9a624e-2025-09-08T160000.000Z","Pulmonary Hypertension","","",""
"GIGYF2","HGNC:11960","https://search.clinicalgenome.org/kb/genes/HGNC:11960","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (08/24/2022)","0 - No Evidence for Triplosensitivity (08/24/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11960","Dosage Working Group","","","","","",""
"GIPC3","HGNC:18183","https://search.clinicalgenome.org/kb/genes/HGNC:18183","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18183","Dosage Working Group","definitive evidence (08/22/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5feebe1-59a9-4e28-ad85-aec5cad6b54e-2017-08-22T160000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"GIPC3","HGNC:18183","https://search.clinicalgenome.org/kb/genes/HGNC:18183","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18183","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"GIPC3","HGNC:18183","https://search.clinicalgenome.org/kb/genes/HGNC:18183","autosomal recessive nonsyndromic hearing loss 15","MONDO:0011160","https://search.clinicalgenome.org/kb/conditions/MONDO:0011160","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18183","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"GIPC3","HGNC:18183","https://search.clinicalgenome.org/kb/genes/HGNC:18183","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18183","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"GJA1","HGNC:4274","https://search.clinicalgenome.org/kb/genes/HGNC:4274","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/20/2013)","0 - No Evidence for Triplosensitivity (11/20/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4274","Dosage Working Group","disputing (03/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e428d8c-42a2-430b-babd-8beceb26197e-2022-03-16T160000.000Z","Hearing Loss","","",""
"GJA1","HGNC:4274","https://search.clinicalgenome.org/kb/genes/HGNC:4274","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Mode of inheritance","0 - No Evidence for Haploinsufficiency (11/20/2013)","0 - No Evidence for Triplosensitivity (11/20/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4274","Dosage Working Group","limited evidence (06/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9be0581c-6ed0-4104-8da8-87b697548212-2024-06-04T160000.000Z","Congenital Heart Disease","","",""
"GJA5","HGNC:4279","https://search.clinicalgenome.org/kb/genes/HGNC:4279","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (02/23/2012)","0 - No Evidence for Triplosensitivity (02/23/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4279","Dosage Working Group","disputing (04/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8c3ec84-6459-406d-92a0-0ac98c243ae7-2024-04-02T160000.000Z","Congenital Heart Disease","","",""
"GJB1","HGNC:4283","https://search.clinicalgenome.org/kb/genes/HGNC:4283","Charcot-Marie-Tooth disease X-linked dominant 1","MONDO:0010549","https://search.clinicalgenome.org/kb/conditions/MONDO:0010549","X-linked inheritance","","","","","definitive evidence (01/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcacd858-2376-4cc0-983a-156145e36595-2020-01-14T170000.000Z","Charcot-Marie-Tooth","","",""
"GJB2","HGNC:4284","https://search.clinicalgenome.org/kb/genes/HGNC:4284","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","40 - Dosage Sensitivity Unlikely for Haploinsufficiency (05/10/2012)","0 - No Evidence for Triplosensitivity (05/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4284","Dosage Working Group","definitive evidence (09/24/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9af2d792-a1fc-4b96-ae23-ee7a31dd2f99-2024-09-24T160000.000Z","Hearing Loss","","",""
"GJB2","HGNC:4284","https://search.clinicalgenome.org/kb/genes/HGNC:4284","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","40 - Dosage Sensitivity Unlikely for Haploinsufficiency (05/10/2012)","0 - No Evidence for Triplosensitivity (05/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4284","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"GJB2","HGNC:4284","https://search.clinicalgenome.org/kb/genes/HGNC:4284","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","40 - Dosage Sensitivity Unlikely for Haploinsufficiency (05/10/2012)","0 - No Evidence for Triplosensitivity (05/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4284","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"GJB2","HGNC:4284","https://search.clinicalgenome.org/kb/genes/HGNC:4284","autosomal recessive nonsyndromic hearing loss 1A","MONDO:0009076","https://search.clinicalgenome.org/kb/conditions/MONDO:0009076","N/A","40 - Dosage Sensitivity Unlikely for Haploinsufficiency (05/10/2012)","0 - No Evidence for Triplosensitivity (05/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4284","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"GJB3","HGNC:4285","https://search.clinicalgenome.org/kb/genes/HGNC:4285","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","disputing (02/27/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f83e013a-685f-405b-89d6-a8e80aefaf6e-2018-02-27T170000.000Z","Hearing Loss","","",""
"GJB3","HGNC:4285","https://search.clinicalgenome.org/kb/genes/HGNC:4285","erythrokeratodermia variabilis","MONDO:0017851","https://search.clinicalgenome.org/kb/conditions/MONDO:0017851","Autosomal dominant inheritance","","","","","definitive evidence (06/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d48c959-31d8-44e2-985c-c48921e8f08a-2023-06-01T160000.000Z","Hearing Loss","","",""
"GJB6","HGNC:4288","https://search.clinicalgenome.org/kb/genes/HGNC:4288","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (01/30/2014)","0 - No Evidence for Triplosensitivity (01/30/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4288","Dosage Working Group","refuting evidence (04/17/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f281869c-25e5-44ad-94e7-c7d6374755fd-2018-04-17T160000.000Z","Hearing Loss","","",""
"GJB6","HGNC:4288","https://search.clinicalgenome.org/kb/genes/HGNC:4288","Clouston syndrome","MONDO:0007510","https://search.clinicalgenome.org/kb/conditions/MONDO:0007510","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (01/30/2014)","0 - No Evidence for Triplosensitivity (01/30/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4288","Dosage Working Group","definitive evidence (04/17/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff18d307-80a8-44b8-8b1a-e26e8a7d912a-2018-04-17T160000.000Z","Hearing Loss","","",""
"GJC2","HGNC:17494","https://search.clinicalgenome.org/kb/genes/HGNC:17494","hypomyelinating leukodystrophy 2","MONDO:0012125","https://search.clinicalgenome.org/kb/conditions/MONDO:0012125","Autosomal recessive inheritance","","","","","definitive evidence (03/12/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bb53a46-83ae-4585-9b6b-c8f1aad1c4ab-2025-03-12T160000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"GK","HGNC:4289","https://search.clinicalgenome.org/kb/genes/HGNC:4289","inborn glycerol kinase deficiency","MONDO:0010613","https://search.clinicalgenome.org/kb/conditions/MONDO:0010613","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/06/2012)","0 - No Evidence for Triplosensitivity (09/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4289","Dosage Working Group","definitive evidence (01/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8965e78-8d6a-4b8a-af2d-e05097d791e0-2022-01-14T174134.555Z","General Inborn Errors of Metabolism","","",""
"GLA","HGNC:4296","https://search.clinicalgenome.org/kb/genes/HGNC:4296","Fabry disease","MONDO:0010526","https://search.clinicalgenome.org/kb/conditions/MONDO:0010526","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/24/2021)","0 - No Evidence for Triplosensitivity (03/24/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4296","Dosage Working Group","definitive evidence (01/23/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb4bb6f4-89de-4586-af6b-3f218b8cb4dc-2019-01-23T170000.000Z","General Gene Curation","Moderate Actionability (12/11/2019) | Moderate Actionability (12/11/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC047 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC047"," | "
"GLB1","HGNC:4298","https://search.clinicalgenome.org/kb/genes/HGNC:4298","mucopolysaccharidosis type 4B","MONDO:0009660","https://search.clinicalgenome.org/kb/conditions/MONDO:0009660","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/25/2015)","0 - No Evidence for Triplosensitivity (03/25/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4298","Dosage Working Group","definitive evidence (04/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e170fda-e08a-4fd3-a3e5-f08c5c0d55b8-2023-04-28T160000.000Z","Lysosomal Diseases GCEP","","",""
"GLB1","HGNC:4298","https://search.clinicalgenome.org/kb/genes/HGNC:4298","GM1 gangliosidosis","MONDO:0018149","https://search.clinicalgenome.org/kb/conditions/MONDO:0018149","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/25/2015)","0 - No Evidence for Triplosensitivity (03/25/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4298","Dosage Working Group","definitive evidence (04/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0019c7ef-4e2f-4f32-ab42-decfa0b20c29-2023-04-28T160000.000Z","Lysosomal Diseases GCEP","","",""
"GLDC","HGNC:4313","https://search.clinicalgenome.org/kb/genes/HGNC:4313","glycine encephalopathy","MONDO:0011612","https://search.clinicalgenome.org/kb/conditions/MONDO:0011612","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/10/2016)","0 - No Evidence for Triplosensitivity (06/10/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4313","Dosage Working Group","definitive evidence (02/06/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14d991f3-25f3-40c9-aacd-c1a008d9eaea-2019-02-06T170000.000Z","Aminoacidopathy","Limited Actionability (11/18/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1029",""
"GLE1","HGNC:4315","https://search.clinicalgenome.org/kb/genes/HGNC:4315","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","","","","","limited evidence (10/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0284b3cd-38af-4309-8ce4-054a0379e693-2023-10-10T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"GLI2","HGNC:4318","https://search.clinicalgenome.org/kb/genes/HGNC:4318","holoprosencephaly 9","MONDO:0012563","https://search.clinicalgenome.org/kb/conditions/MONDO:0012563","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/11/2021)","0 - No Evidence for Triplosensitivity (01/11/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4318","Dosage Working Group","","","","","",""
"GLI3","HGNC:4319","https://search.clinicalgenome.org/kb/genes/HGNC:4319","Greig cephalopolysyndactyly syndrome","MONDO:0008287","https://search.clinicalgenome.org/kb/conditions/MONDO:0008287","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/12/2021)","0 - No Evidence for Triplosensitivity (01/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4319","Dosage Working Group","","","","","",""
"GLIS2","HGNC:29450","https://search.clinicalgenome.org/kb/genes/HGNC:29450","nephronophthisis 7","MONDO:0012680","https://search.clinicalgenome.org/kb/conditions/MONDO:0012680","Autosomal recessive inheritance","","","","","moderate evidence (06/27/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c51be76f-59d3-4884-9df3-4416686848ab-2024-06-27T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"GLIS3","HGNC:28510","https://search.clinicalgenome.org/kb/genes/HGNC:28510","neonatal diabetes mellitus with congenital hypothyroidism","MONDO:0012436","https://search.clinicalgenome.org/kb/conditions/MONDO:0012436","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28510","Dosage Working Group","","","","","",""
"GLMN","HGNC:14373","https://search.clinicalgenome.org/kb/genes/HGNC:14373","glomuvenous malformation","MONDO:0007672","https://search.clinicalgenome.org/kb/conditions/MONDO:0007672","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/18/2013)","0 - No Evidence for Triplosensitivity (07/18/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14373","Dosage Working Group","","","","","",""
"GLRB","HGNC:4329","https://search.clinicalgenome.org/kb/genes/HGNC:4329","hyperekplexia 2","MONDO:0013828","https://search.clinicalgenome.org/kb/conditions/MONDO:0013828","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4329","Dosage Working Group","","","","","",""
"GLS","HGNC:4331","https://search.clinicalgenome.org/kb/genes/HGNC:4331","glutaminase deficiency","MONDO:0600001","https://search.clinicalgenome.org/kb/conditions/MONDO:0600001","Autosomal recessive inheritance","","","","","definitive evidence (07/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1eedd351-1520-4354-9608-cf8d56ce9bd9-2021-07-09T170141.305Z","Aminoacidopathy","","",""
"GLS","HGNC:4331","https://search.clinicalgenome.org/kb/genes/HGNC:4331","infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development","MONDO:0032685","https://search.clinicalgenome.org/kb/conditions/MONDO:0032685","Autosomal dominant inheritance","","","","","limited evidence (07/26/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0a699ec-3d67-4e18-a0da-464c2832c4ec-2024-07-26T160000.000Z","Aminoacidopathy","","",""
"GLT8D1","HGNC:24870","https://search.clinicalgenome.org/kb/genes/HGNC:24870","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","","","","","limited evidence (01/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2c4f919-ccb5-4d9f-a604-5ed19e19057e-2025-01-14T200000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"GLUD1","HGNC:4335","https://search.clinicalgenome.org/kb/genes/HGNC:4335","hyperinsulinism-hyperammonemia syndrome","MONDO:0011717","https://search.clinicalgenome.org/kb/conditions/MONDO:0011717","Autosomal dominant inheritance","","","","","definitive evidence (11/13/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_924bd593-ba5a-49a5-bb71-8224271a713b-2020-11-13T170000.000Z","Aminoacidopathy","","",""
"GLUL","HGNC:4341","https://search.clinicalgenome.org/kb/genes/HGNC:4341","congenital brain dysgenesis due to glutamine synthetase deficiency","MONDO:0012393","https://search.clinicalgenome.org/kb/conditions/MONDO:0012393","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/04/2015)","0 - No Evidence for Triplosensitivity (06/04/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4341","Dosage Working Group","moderate evidence (12/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d71d7866-437d-48bd-8a98-21e67abdd917-2024-12-13T170000.000Z","Aminoacidopathy","","",""
"GLUL","HGNC:4341","https://search.clinicalgenome.org/kb/genes/HGNC:4341","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/04/2015)","0 - No Evidence for Triplosensitivity (06/04/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4341","Dosage Working Group","moderate evidence (01/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd1658f4-ac4f-47e2-91a1-a127550a5ee9-2025-01-07T180000.000Z","Epilepsy","","",""
"GM2A","HGNC:4367","https://search.clinicalgenome.org/kb/genes/HGNC:4367","Tay-Sachs disease AB variant","MONDO:0010099","https://search.clinicalgenome.org/kb/conditions/MONDO:0010099","Autosomal recessive inheritance","","","","","definitive evidence (08/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c793bd3-8433-4632-a571-a3fc07e84c10-2022-08-12T160000.000Z","Lysosomal Diseases GCEP","","",""
"GMNN","HGNC:17493","https://search.clinicalgenome.org/kb/genes/HGNC:17493","Meier-Gorlin syndrome 6","MONDO:0014794","https://search.clinicalgenome.org/kb/conditions/MONDO:0014794","Autosomal dominant inheritance","","","","","moderate evidence (12/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9d7274f8-8ae0-4260-bea2-c2c590967785-2024-12-04T170000.000Z","Syndromic Disorders","","",""
"GMPPA","HGNC:22923","https://search.clinicalgenome.org/kb/genes/HGNC:22923","alacrima, achalasia, and intellectual disability syndrome","MONDO:0014219","https://search.clinicalgenome.org/kb/conditions/MONDO:0014219","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:22923","Dosage Working Group","definitive evidence (09/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac7d2391-9ba9-45de-870a-7a996ea0766f-2023-09-06T160000.000Z","Congenital Disorders of Glycosylation","","",""
"GMPPB","HGNC:22932","https://search.clinicalgenome.org/kb/genes/HGNC:22932","myopathy caused by variation in GMPPB","MONDO:0700084","https://search.clinicalgenome.org/kb/conditions/MONDO:0700084","Autosomal recessive inheritance","","","","","definitive evidence (08/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44d2e0f3-d2c4-4879-8bc8-2f3bdd4cfac5-2024-08-13T190000.000Z","Muscular Dystrophies and Myopathies","","",""
"GNAI1","HGNC:4384","https://search.clinicalgenome.org/kb/genes/HGNC:4384","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/28/2023)","0 - No Evidence for Triplosensitivity (03/28/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4384","Dosage Working Group","definitive evidence (03/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea8128fc-f085-492a-b0ef-f37d994bb01b-2021-03-17T160000.000Z","Intellectual Disability and Autism","","",""
"GNAO1","HGNC:4389","https://search.clinicalgenome.org/kb/genes/HGNC:4389","movement disorder","MONDO:0005395","https://search.clinicalgenome.org/kb/conditions/MONDO:0005395","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (05/10/2022)","0 - No Evidence for Triplosensitivity (05/10/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4389","Dosage Working Group","definitive evidence (02/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_418a5a18-3d0e-4cef-84b4-74c5accc0df1-2019-02-19T170000.000Z","Epilepsy","","",""
"GNAO1","HGNC:4389","https://search.clinicalgenome.org/kb/genes/HGNC:4389","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (05/10/2022)","0 - No Evidence for Triplosensitivity (05/10/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4389","Dosage Working Group","definitive evidence (12/18/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b56856e2-8e6f-4f01-a6bd-1642fee71e5b-2018-12-18T170000.000Z","Epilepsy","","",""
"GNAS","HGNC:4392","https://search.clinicalgenome.org/kb/genes/HGNC:4392","pseudopseudohypoparathyroidism","MONDO:0012912","https://search.clinicalgenome.org/kb/conditions/MONDO:0012912","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/12/2021)","0 - No Evidence for Triplosensitivity (01/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4392","Dosage Working Group","","","","","",""
"GNAT1","HGNC:4393","https://search.clinicalgenome.org/kb/genes/HGNC:4393","inherited retinal dystrophy","MONDO:0019118","https://search.clinicalgenome.org/kb/conditions/MONDO:0019118","Autosomal recessive inheritance | Autosomal dominant inheritance","","","","","definitive evidence (11/07/2024) | definitive evidence (11/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c88f15f7-5f50-4de4-9dbb-50cf4f98f122-2024-11-07T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_918f973a-bcf5-43f5-981a-c452b1087650-2024-11-07T170000.000Z","Retina | Retina","","",""
"GNAT2","HGNC:4394","https://search.clinicalgenome.org/kb/genes/HGNC:4394","GNAT2-related retinopathy","MONDO:0800392","https://search.clinicalgenome.org/kb/conditions/MONDO:0800392","Autosomal recessive inheritance","","","","","definitive evidence (11/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6888747f-55ae-4f8e-a3a8-c77bcd543689-2022-11-03T160000.000Z","Retina","","",""
"GNB1","HGNC:4396","https://search.clinicalgenome.org/kb/genes/HGNC:4396","intellectual disability, autosomal dominant 42","MONDO:0014855","https://search.clinicalgenome.org/kb/conditions/MONDO:0014855","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (01/23/2019)","0 - No Evidence for Triplosensitivity (01/23/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4396","Dosage Working Group","definitive evidence (08/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f83c8548-99d7-489d-8582-ac4ad5abd0ec-2023-08-16T100000.000Z","Intellectual Disability and Autism","","",""
"GNB1","HGNC:4396","https://search.clinicalgenome.org/kb/genes/HGNC:4396","complex neurodevelopmental disorder with or without congenital anomalies","MONDO:0100465","https://search.clinicalgenome.org/kb/conditions/MONDO:0100465","N/A","1 - Little Evidence for Haploinsufficiency (01/23/2019)","0 - No Evidence for Triplosensitivity (01/23/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4396","Dosage Working Group","","","","","",""
"GNB4","HGNC:20731","https://search.clinicalgenome.org/kb/genes/HGNC:20731","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Autosomal dominant inheritance","","","","","moderate evidence (04/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8cecdd7-06d8-4697-8cd9-32900c366371-2020-04-14T132010.930Z","Charcot-Marie-Tooth","","",""
"GNE","HGNC:23657","https://search.clinicalgenome.org/kb/genes/HGNC:23657","macrothrombocytopenia, isolated","MONDO:0031447","https://search.clinicalgenome.org/kb/conditions/MONDO:0031447","Autosomal recessive inheritance","","","","","moderate evidence (05/25/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_335d18ae-50ef-49a8-abb2-79799833b544-2022-05-25T160000.000Z","Hemostasis Thrombosis","","",""
"GNMT","HGNC:4415","https://search.clinicalgenome.org/kb/genes/HGNC:4415","glycine N-methyltransferase deficiency","MONDO:0011698","https://search.clinicalgenome.org/kb/conditions/MONDO:0011698","Autosomal recessive inheritance","","","","","limited evidence (12/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cafb0200-f6cf-482d-9ffb-69ae7bc43669-2022-12-12T170000.000Z","Aminoacidopathy","","",""
"GNPAT","HGNC:4416","https://search.clinicalgenome.org/kb/genes/HGNC:4416","glyceronephosphate O-acyltransferase deficiency","MONDO:0100273","https://search.clinicalgenome.org/kb/conditions/MONDO:0100273","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4416","Dosage Working Group","definitive evidence (02/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba96f922-5ec9-4404-b2e4-66c31c2dcda6-2020-02-07T170000.000Z","Peroxisomal Disorders","","",""
"GNPAT","HGNC:4416","https://search.clinicalgenome.org/kb/genes/HGNC:4416","rhizomelic chondrodysplasia punctata type 2","MONDO:0009112","https://search.clinicalgenome.org/kb/conditions/MONDO:0009112","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4416","Dosage Working Group","","","","","",""
"GNPTAB","HGNC:29670","https://search.clinicalgenome.org/kb/genes/HGNC:29670","GNPTAB-mucolipidosis","MONDO:0100122","https://search.clinicalgenome.org/kb/conditions/MONDO:0100122","Autosomal recessive inheritance","","","","","definitive evidence (04/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53e7d8eb-de36-49d5-ba29-57f640a492bc-2023-04-28T040000.000Z","Lysosomal Diseases GCEP","","",""
"GNPTG","HGNC:23026","https://search.clinicalgenome.org/kb/genes/HGNC:23026","GNPTG-mucolipidosis","MONDO:0009652","https://search.clinicalgenome.org/kb/conditions/MONDO:0009652","Autosomal recessive inheritance","","","","","definitive evidence (12/28/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_71d1d916-4c96-4d09-a66b-1c7ccb55c353-2022-12-28T170000.000Z","Lysosomal Diseases GCEP","","",""
"GNRH1","HGNC:4419","https://search.clinicalgenome.org/kb/genes/HGNC:4419","hypogonadotropic hypogonadism 12 with or without anosmia","MONDO:0013914","https://search.clinicalgenome.org/kb/conditions/MONDO:0013914","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4419","Dosage Working Group","","","","","",""
"GNS","HGNC:4422","https://search.clinicalgenome.org/kb/genes/HGNC:4422","mucopolysaccharidosis type 3D","MONDO:0009658","https://search.clinicalgenome.org/kb/conditions/MONDO:0009658","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4422","Dosage Working Group","definitive evidence (09/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_63312833-baef-4b11-9769-c93957decef6-2022-09-02T160000.000Z","Lysosomal Diseases GCEP","","",""
"GORAB","HGNC:25676","https://search.clinicalgenome.org/kb/genes/HGNC:25676","geroderma osteodysplastica","MONDO:0009271","https://search.clinicalgenome.org/kb/conditions/MONDO:0009271","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25676","Dosage Working Group","definitive evidence (07/03/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d096a3cd-cc50-40de-abea-5cbff57f865c-2025-07-03T160000.000Z","Congenital Disorders of Glycosylation","","",""
"GOSR2","HGNC:4431","https://search.clinicalgenome.org/kb/genes/HGNC:4431","progressive myoclonus epilepsy","MONDO:0020074","https://search.clinicalgenome.org/kb/conditions/MONDO:0020074","Autosomal recessive inheritance","","","","","definitive evidence (04/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbb3e3b1-2e45-416f-9449-ad36d6233e0d-2024-04-16T160000.000Z","Epilepsy","","",""
"GP1BA","HGNC:4439","https://search.clinicalgenome.org/kb/genes/HGNC:4439","platelet-type von Willebrand disease","MONDO:0008332","https://search.clinicalgenome.org/kb/conditions/MONDO:0008332","Autosomal dominant inheritance","","","","","definitive evidence (05/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8fef91aa-8c41-4044-b601-da24c2bab351-2020-05-27T160000.000Z","Hemostasis Thrombosis","","",""
"GP1BA","HGNC:4439","https://search.clinicalgenome.org/kb/genes/HGNC:4439","Bernard-Soulier syndrome","MONDO:0009276","https://search.clinicalgenome.org/kb/conditions/MONDO:0009276","Autosomal recessive inheritance","","","","","definitive evidence (05/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e3aa94f-1e87-4806-bc47-2f8c40e3d1bc-2020-05-27T160000.000Z","Hemostasis Thrombosis","","",""
"GP1BB","HGNC:4440","https://search.clinicalgenome.org/kb/genes/HGNC:4440","Bernard-Soulier syndrome","MONDO:0009276","https://search.clinicalgenome.org/kb/conditions/MONDO:0009276","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4440","Dosage Working Group","definitive evidence (06/06/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2064876d-ea54-4ace-be76-f700cfefbf90-2019-06-06T160000.000Z","Hemostasis Thrombosis","","",""
"GP6","HGNC:14388","https://search.clinicalgenome.org/kb/genes/HGNC:14388","platelet-type bleeding disorder 11","MONDO:0013623","https://search.clinicalgenome.org/kb/conditions/MONDO:0013623","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14388","Dosage Working Group","definitive evidence (10/23/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76262cf5-f2cd-4466-b542-bf2334a96c73-2019-10-23T160000.000Z","Hemostasis Thrombosis","","",""
"GP9","HGNC:4444","https://search.clinicalgenome.org/kb/genes/HGNC:4444","Bernard-Soulier syndrome","MONDO:0009276","https://search.clinicalgenome.org/kb/conditions/MONDO:0009276","Autosomal recessive inheritance","","","","","definitive evidence (11/27/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af66eb15-10fe-4c2b-bff2-b8c8bf813174-2019-11-27T170000.000Z","Hemostasis Thrombosis","","",""
"GPAA1","HGNC:4446","https://search.clinicalgenome.org/kb/genes/HGNC:4446","glycosylphosphatidylinositol biosynthesis defect 15","MONDO:0060627","https://search.clinicalgenome.org/kb/conditions/MONDO:0060627","Autosomal recessive inheritance","","","","","strong evidence (03/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_682c38ac-9075-47ec-96e4-cc2ce7b0838b-2023-03-03T170000.000Z","Syndromic Disorders","","",""
"GPC3","HGNC:4451","https://search.clinicalgenome.org/kb/genes/HGNC:4451","Simpson-Golabi-Behmel syndrome","MONDO:0010731","https://search.clinicalgenome.org/kb/conditions/MONDO:0010731","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/27/2021)","0 - No Evidence for Triplosensitivity (01/27/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4451","Dosage Working Group","definitive evidence (12/31/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b8b02d6-1d60-4b4c-bb8a-b976907087c7-2019-12-31T175422.159Z","Intellectual Disability and Autism","","",""
"GPC3","HGNC:4451","https://search.clinicalgenome.org/kb/genes/HGNC:4451","Simpson-Golabi-Behmel syndrome type 1","MONDO:0020602","https://search.clinicalgenome.org/kb/conditions/MONDO:0020602","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/27/2021)","0 - No Evidence for Triplosensitivity (01/27/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4451","Dosage Working Group","","","","","",""
"GPC6","HGNC:4454","https://search.clinicalgenome.org/kb/genes/HGNC:4454","autosomal recessive omodysplasia","MONDO:0009779","https://search.clinicalgenome.org/kb/conditions/MONDO:0009779","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (11/17/2011)","0 - No Evidence for Triplosensitivity (11/17/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4454","Dosage Working Group","","","","","",""
"GPD1","HGNC:4455","https://search.clinicalgenome.org/kb/genes/HGNC:4455","transient infantile hypertriglyceridemia and hepatosteatosis","MONDO:0013771","https://search.clinicalgenome.org/kb/conditions/MONDO:0013771","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4455","Dosage Working Group","","","","","",""
"GPD1L","HGNC:28956","https://search.clinicalgenome.org/kb/genes/HGNC:28956","Brugada syndrome 1","MONDO:0011001","https://search.clinicalgenome.org/kb/conditions/MONDO:0011001","Autosomal dominant inheritance","","","","","disputing (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10149","Brugada Syndrome","","",""
"GPHN","HGNC:15465","https://search.clinicalgenome.org/kb/genes/HGNC:15465","sulfite oxidase deficiency due to molybdenum cofactor deficiency type C","MONDO:0014212","https://search.clinicalgenome.org/kb/conditions/MONDO:0014212","Autosomal recessive inheritance","1 - Little Evidence for Haploinsufficiency (06/11/2024)","0 - No Evidence for Triplosensitivity (06/11/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15465","Dosage Working Group","moderate evidence (05/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29f6ebf3-c4c5-4770-b7d1-50816b9f9d74-2023-05-12T180000.000Z","General Inborn Errors of Metabolism","","",""
"GPHN","HGNC:15465","https://search.clinicalgenome.org/kb/genes/HGNC:15465","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (06/11/2024)","0 - No Evidence for Triplosensitivity (06/11/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15465","Dosage Working Group","","","","","",""
"GPIHBP1","HGNC:24945","https://search.clinicalgenome.org/kb/genes/HGNC:24945","hyperlipoproteinemia, type 1D","MONDO:0014412","https://search.clinicalgenome.org/kb/conditions/MONDO:0014412","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24945","Dosage Working Group","","","","","",""
"GPR143","HGNC:20145","https://search.clinicalgenome.org/kb/genes/HGNC:20145","GPR143-related foveal hypoplasia","MONDO:0700230","https://search.clinicalgenome.org/kb/conditions/MONDO:0700230","X-linked inheritance","","","","","definitive evidence (10/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41096b60-bbfb-469e-9695-8a23986f467c-2022-10-06T160000.000Z","Retina","","",""
"GPR179","HGNC:31371","https://search.clinicalgenome.org/kb/genes/HGNC:31371","GPR179-related retinopathy","MONDO:0800396","https://search.clinicalgenome.org/kb/conditions/MONDO:0800396","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:31371","Dosage Working Group","definitive evidence (06/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53ab184d-9f73-42b6-b407-7d72f7b44c8a-2022-06-02T160000.000Z","Retina","","",""
"GPR179","HGNC:31371","https://search.clinicalgenome.org/kb/genes/HGNC:31371","congenital stationary night blindness 1E","MONDO:0013807","https://search.clinicalgenome.org/kb/conditions/MONDO:0013807","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:31371","Dosage Working Group","","","","","",""
"GPSM2","HGNC:29501","https://search.clinicalgenome.org/kb/genes/HGNC:29501","Chudley-McCullough syndrome","MONDO:0011411","https://search.clinicalgenome.org/kb/conditions/MONDO:0011411","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29501","Dosage Working Group","definitive evidence (05/01/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd40cf49-a25c-450b-be6b-b80eef958f4c-2018-05-01T160000.000Z","Hearing Loss","","",""
"GPT2","HGNC:18062","https://search.clinicalgenome.org/kb/genes/HGNC:18062","glutamate pyruvate transaminase 2 deficiency","MONDO:0014567","https://search.clinicalgenome.org/kb/conditions/MONDO:0014567","Autosomal recessive inheritance","","","","","definitive evidence (10/05/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42a70a83-40da-4acc-b6a3-9ef3942abd14-2021-10-05T115427.845Z","General Inborn Errors of Metabolism","","",""
"GPX4","HGNC:4556","https://search.clinicalgenome.org/kb/genes/HGNC:4556","spondylometaphyseal dysplasia, Sedaghatian type","MONDO:0009593","https://search.clinicalgenome.org/kb/conditions/MONDO:0009593","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4556","Dosage Working Group","","","","","",""
"GREM1","HGNC:2001","https://search.clinicalgenome.org/kb/genes/HGNC:2001","hereditary mixed polyposis syndrome","MONDO:0011023","https://search.clinicalgenome.org/kb/conditions/MONDO:0011023","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (08/20/2020)","0 - No Evidence for Triplosensitivity (08/20/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2001","Dosage Working Group","definitive evidence (06/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e702a1e-b700-4364-bf4b-9ad0d05af89f-2022-06-20T170000.000Z","Hereditary Cancer","Limited Actionability (08/03/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC154",""
"GREM1","HGNC:2001","https://search.clinicalgenome.org/kb/genes/HGNC:2001","polyposis syndrome, hereditary mixed, 1","MONDO:0042486","https://search.clinicalgenome.org/kb/conditions/MONDO:0042486","N/A","0 - No Evidence for Haploinsufficiency (08/20/2020)","0 - No Evidence for Triplosensitivity (08/20/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2001","Dosage Working Group","","","","Limited Actionability (08/03/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC154",""
"GREM2","HGNC:17655","https://search.clinicalgenome.org/kb/genes/HGNC:17655","tooth agenesis, selective, 9","MONDO:0014999","https://search.clinicalgenome.org/kb/conditions/MONDO:0014999","Autosomal dominant inheritance","","","","","limited evidence (01/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef7b431e-de56-4e8b-a505-122f2e04a80a-2025-01-16T170000.000Z","Craniofacial Malformations","","",""
"GRHL2","HGNC:2799","https://search.clinicalgenome.org/kb/genes/HGNC:2799","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","definitive evidence (05/01/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2ca9952-b611-4e6f-bbf8-aa5175248d01-2020-05-01T160000.000Z","Hearing Loss","","",""
"GRHPR","HGNC:4570","https://search.clinicalgenome.org/kb/genes/HGNC:4570","primary hyperoxaluria type 2","MONDO:0009824","https://search.clinicalgenome.org/kb/conditions/MONDO:0009824","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4570","Dosage Working Group","","","","","",""
"GRIA1","HGNC:4571","https://search.clinicalgenome.org/kb/genes/HGNC:4571","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","moderate evidence (02/08/2024) | limited evidence (02/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03597202-ca6c-4eb6-8531-59803753c382-2024-02-08T070000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_84aaf490-76e2-4d87-a1bd-53ab6611236c-2024-02-08T070000.000Z","Intellectual Disability and Autism | Intellectual Disability and Autism","","",""
"GRIA2","HGNC:4572","https://search.clinicalgenome.org/kb/genes/HGNC:4572","neurodevelopmental disorder with language impairment and behavioral abnormalities","MONDO:0030060","https://search.clinicalgenome.org/kb/conditions/MONDO:0030060","Autosomal dominant inheritance","","","","","definitive evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd72c9ed-0236-406f-a18e-8d743c7f5827-2023-05-30T160000.000Z","Syndromic Disorders","","",""
"GRIA3","HGNC:4573","https://search.clinicalgenome.org/kb/genes/HGNC:4573","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (03/29/2024)","0 - No Evidence for Triplosensitivity (03/29/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4573","Dosage Working Group","definitive evidence (11/06/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25f94660-0a8d-4f3a-8f6c-dde1b38a8ab7-2019-11-06T170000.000Z","Intellectual Disability and Autism","","",""
"GRIA3","HGNC:4573","https://search.clinicalgenome.org/kb/genes/HGNC:4573","syndromic X-linked intellectual disability 94","MONDO:0010402","https://search.clinicalgenome.org/kb/conditions/MONDO:0010402","N/A","1 - Little Evidence for Haploinsufficiency (03/29/2024)","0 - No Evidence for Triplosensitivity (03/29/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4573","Dosage Working Group","","","","","",""
"GRIA4","HGNC:4574","https://search.clinicalgenome.org/kb/genes/HGNC:4574","neurodevelopmental disorder with or without seizures and gait abnormalities","MONDO:0060641","https://search.clinicalgenome.org/kb/conditions/MONDO:0060641","Autosomal dominant inheritance","","","","","moderate evidence (07/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c6e2c49-e537-4eec-8b85-aef0c6651d55-2024-07-07T160000.000Z","Intellectual Disability and Autism","","",""
"GRIK2","HGNC:4580","https://search.clinicalgenome.org/kb/genes/HGNC:4580","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance | Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/05/2012)","0 - No Evidence for Triplosensitivity (09/05/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4580","Dosage Working Group","definitive evidence (02/10/2022) | moderate evidence (02/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f1b4733-9b55-401b-bc3b-6ead723e7fcb-2022-02-10T070000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1939b90b-f1e4-4426-9f8c-5526f9003f10-2022-02-10T070000.000Z","Intellectual Disability and Autism | Intellectual Disability and Autism","","",""
"GRIK2","HGNC:4580","https://search.clinicalgenome.org/kb/genes/HGNC:4580","intellectual disability, autosomal recessive 6","MONDO:0012614","https://search.clinicalgenome.org/kb/conditions/MONDO:0012614","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (09/05/2012)","0 - No Evidence for Triplosensitivity (09/05/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4580","Dosage Working Group","","","","","",""
"GRIN1","HGNC:4584","https://search.clinicalgenome.org/kb/genes/HGNC:4584","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","definitive evidence (11/20/2018) | definitive evidence (04/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b98e5df5-8f39-4fd6-9715-bb8da7dc1806-2018-11-20T050000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22693f82-fde1-4123-9cfb-6ec27e0c1ac6-2023-04-04T070000.000Z","Epilepsy | Epilepsy","","",""
"GRIN2A","HGNC:4585","https://search.clinicalgenome.org/kb/genes/HGNC:4585","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/25/2024)","0 - No Evidence for Triplosensitivity (09/25/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4585","Dosage Working Group","definitive evidence (07/16/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c405372-b99b-42fc-836d-65d7c0cbd279-2019-07-16T160000.000Z","Epilepsy","","",""
"GRIN2B","HGNC:4586","https://search.clinicalgenome.org/kb/genes/HGNC:4586","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/25/2019)","0 - No Evidence for Triplosensitivity (09/25/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4586","Dosage Working Group","definitive evidence (03/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff8d9346-2ab7-4ef1-9071-9b8ae4178174-2019-03-19T170000.000Z","Epilepsy","","",""
"GRIN2B","HGNC:4586","https://search.clinicalgenome.org/kb/genes/HGNC:4586","intellectual disability, autosomal dominant 6","MONDO:0013509","https://search.clinicalgenome.org/kb/conditions/MONDO:0013509","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/25/2019)","0 - No Evidence for Triplosensitivity (09/25/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4586","Dosage Working Group","","","","","",""
"GRIN2D","HGNC:4588","https://search.clinicalgenome.org/kb/genes/HGNC:4588","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (03/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a52befb3-e9e0-46f1-9abf-8ead03151230-2022-03-15T190000.000Z","Epilepsy","","",""
"GRIP1","HGNC:18708","https://search.clinicalgenome.org/kb/genes/HGNC:18708","Fraser syndrome 3","MONDO:0054739","https://search.clinicalgenome.org/kb/conditions/MONDO:0054739","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (07/10/2012)","0 - No Evidence for Triplosensitivity (07/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18708","Dosage Working Group","definitive evidence (03/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f48ad44-97c0-41e8-b50e-307eac8c310a-2023-03-14T160000.000Z","Prenatal","","",""
"GRIP1","HGNC:18708","https://search.clinicalgenome.org/kb/genes/HGNC:18708","Fraser syndrome 1","MONDO:0054737","https://search.clinicalgenome.org/kb/conditions/MONDO:0054737","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (07/10/2012)","0 - No Evidence for Triplosensitivity (07/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18708","Dosage Working Group","","","","","",""
"GRK1","HGNC:10013","https://search.clinicalgenome.org/kb/genes/HGNC:10013","Oguchi disease","MONDO:0019152","https://search.clinicalgenome.org/kb/conditions/MONDO:0019152","Autosomal recessive inheritance","","","","","definitive evidence (01/07/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6e159cb-c02a-417c-9c60-a9b66db41c73-2021-01-07T170000.000Z","Retina","","",""
"GRM1","HGNC:4593","https://search.clinicalgenome.org/kb/genes/HGNC:4593","autosomal recessive spinocerebellar ataxia 13","MONDO:0013905","https://search.clinicalgenome.org/kb/conditions/MONDO:0013905","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4593","Dosage Working Group","","","","","",""
"GRM6","HGNC:4598","https://search.clinicalgenome.org/kb/genes/HGNC:4598","GRM6-related retinopathy","MONDO:0800397","https://search.clinicalgenome.org/kb/conditions/MONDO:0800397","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4598","Dosage Working Group","definitive evidence (09/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d65aebc-d4af-49ca-9682-9fde5f56bbef-2022-09-01T160000.000Z","Retina","","",""
"GRM6","HGNC:4598","https://search.clinicalgenome.org/kb/genes/HGNC:4598","congenital stationary night blindness 1B","MONDO:0009758","https://search.clinicalgenome.org/kb/conditions/MONDO:0009758","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4598","Dosage Working Group","","","","","",""
"GRN","HGNC:4601","https://search.clinicalgenome.org/kb/genes/HGNC:4601","neuronal ceroid lipofuscinosis","MONDO:0016295","https://search.clinicalgenome.org/kb/conditions/MONDO:0016295","Autosomal recessive inheritance","","","","","definitive evidence (01/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49eb0915-acff-423d-a70f-d00d4319d404-2023-01-03T170000.000Z","Epilepsy","","",""
"GRN","HGNC:4601","https://search.clinicalgenome.org/kb/genes/HGNC:4601","frontotemporal dementia and/or amyotrophic lateral sclerosis","MONDO:0030923","https://search.clinicalgenome.org/kb/conditions/MONDO:0030923","Autosomal dominant inheritance","","","","","definitive evidence (05/25/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e76545e6-2411-44c5-a458-99f02aa7ff44-2023-05-25T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"GRXCR1","HGNC:31673","https://search.clinicalgenome.org/kb/genes/HGNC:31673","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/06/2018)","0 - No Evidence for Triplosensitivity (03/06/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:31673","Dosage Working Group","definitive evidence (04/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4becaf23-4b72-4dd1-a5aa-4deccbb394ea-2018-04-24T040000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"GRXCR1","HGNC:31673","https://search.clinicalgenome.org/kb/genes/HGNC:31673","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/06/2018)","0 - No Evidence for Triplosensitivity (03/06/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:31673","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"GRXCR1","HGNC:31673","https://search.clinicalgenome.org/kb/genes/HGNC:31673","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/06/2018)","0 - No Evidence for Triplosensitivity (03/06/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:31673","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"GRXCR1","HGNC:31673","https://search.clinicalgenome.org/kb/genes/HGNC:31673","autosomal recessive nonsyndromic hearing loss 25","MONDO:0013210","https://search.clinicalgenome.org/kb/conditions/MONDO:0013210","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/06/2018)","0 - No Evidence for Triplosensitivity (03/06/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:31673","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"GRXCR2","HGNC:33862","https://search.clinicalgenome.org/kb/genes/HGNC:33862","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","moderate evidence (03/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_207f12b7-3148-4a8f-88f8-f78ac5bb294c-2021-03-26T155748.643Z","Hearing Loss","","",""
"GSDME","HGNC:2810","https://search.clinicalgenome.org/kb/genes/HGNC:2810","autosomal dominant nonsyndromic hearing loss","MONDO:0019587","https://search.clinicalgenome.org/kb/conditions/MONDO:0019587","Autosomal dominant inheritance","","","","","definitive evidence (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b0a844b-f968-48e0-8940-35584eb3454b-2017-11-21T170000.000Z","Hearing Loss","","",""
"GSDME","HGNC:2810","https://search.clinicalgenome.org/kb/genes/HGNC:2810","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","definitive evidence (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b0a844b-f968-48e0-8940-35584eb3454b-2017-11-21T170000.000Z","Hearing Loss","","",""
"GSS","HGNC:4624","https://search.clinicalgenome.org/kb/genes/HGNC:4624","inherited glutathione synthetase deficiency","MONDO:0017909","https://search.clinicalgenome.org/kb/conditions/MONDO:0017909","Autosomal recessive inheritance","","","","","definitive evidence (04/26/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69a8e645-0e10-4ea9-8545-212ce9b0dcbf-2019-04-26T160000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/19/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1030",""
"GSTZ1","HGNC:4643","https://search.clinicalgenome.org/kb/genes/HGNC:4643","maleylacetoacetate isomerase deficiency","MONDO:0060527","https://search.clinicalgenome.org/kb/conditions/MONDO:0060527","Autosomal recessive inheritance","","","","","moderate evidence (12/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c287e0b-88be-4fbb-82a6-a8c70d430506-2024-12-13T170000.000Z","Aminoacidopathy","","",""
"GSX2","HGNC:24959","https://search.clinicalgenome.org/kb/genes/HGNC:24959","diencephalic-mesencephalic junction dysplasia syndrome 2","MONDO:0020762","https://search.clinicalgenome.org/kb/conditions/MONDO:0020762","Autosomal recessive inheritance","","","","","limited evidence (02/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d6f7f67-63e7-4587-9216-6909f5883de9-2023-02-27T190000.000Z","Cerebral Palsy","","",""
"GTF2H5","HGNC:21157","https://search.clinicalgenome.org/kb/genes/HGNC:21157","trichothiodystrophy 3, photosensitive","MONDO:0014619","https://search.clinicalgenome.org/kb/conditions/MONDO:0014619","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21157","Dosage Working Group","","","","","",""
"GTPBP2","HGNC:4670","https://search.clinicalgenome.org/kb/genes/HGNC:4670","Jaberi-Elahi syndrome","MONDO:0060711","https://search.clinicalgenome.org/kb/conditions/MONDO:0060711","Autosomal recessive inheritance","","","","","definitive evidence (08/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8e1f8d9-d8e8-428c-9860-f84bb96ff9ea-2024-08-16T160000.000Z","Syndromic Disorders","","",""
"GTPBP3","HGNC:14880","https://search.clinicalgenome.org/kb/genes/HGNC:14880","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (02/12/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d1b0a47-e62d-48dd-8e0d-f2b1aff014a7-2020-02-12T203256.857Z","Mitochondrial Diseases","","",""
"GTPBP3","HGNC:14880","https://search.clinicalgenome.org/kb/genes/HGNC:14880","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (05/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_393ee652-756b-4b54-9e0a-916bbae9d9eb-2024-05-23T040000.000Z","Mitochondrial Diseases","","",""
"GUCA1A","HGNC:4678","https://search.clinicalgenome.org/kb/genes/HGNC:4678","cone dystrophy 3","MONDO:0011193","https://search.clinicalgenome.org/kb/conditions/MONDO:0011193","Autosomal dominant inheritance","","","","","definitive evidence (05/15/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e610e6de-7901-4fad-8db5-f71db38fbdff-2025-05-15T160000.000Z","Retina","","",""
"GUCY2D","HGNC:4689","https://search.clinicalgenome.org/kb/genes/HGNC:4689","GUCY2D-related recessive retinopathy","MONDO:0100453","https://search.clinicalgenome.org/kb/conditions/MONDO:0100453","Autosomal recessive inheritance","","","","","definitive evidence (03/27/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dcb8350d-c57f-43e3-9e9f-d059ebbf61c9-2022-03-27T232210.761Z","Retina","","",""
"GUCY2D","HGNC:4689","https://search.clinicalgenome.org/kb/genes/HGNC:4689","GUCY2D-related dominant retinopathy","MONDO:0100441","https://search.clinicalgenome.org/kb/conditions/MONDO:0100441","Autosomal dominant inheritance","","","","","definitive evidence (05/28/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8816f73d-0432-4d50-bbb6-74a8f1da96ae-2022-05-28T195616.735Z","Retina","","",""
"GUSB","HGNC:4696","https://search.clinicalgenome.org/kb/genes/HGNC:4696","mucopolysaccharidosis type 7","MONDO:0009662","https://search.clinicalgenome.org/kb/conditions/MONDO:0009662","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/12/2015)","0 - No Evidence for Triplosensitivity (10/12/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4696","Dosage Working Group","definitive evidence (07/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aae0c8bd-5ff2-48a1-90e9-9038dcb44bc3-2022-07-05T160000.000Z","Lysosomal Diseases GCEP","","",""
"GYG1","HGNC:4699","https://search.clinicalgenome.org/kb/genes/HGNC:4699","polyglucosan body myopathy type 2","MONDO:0014526","https://search.clinicalgenome.org/kb/conditions/MONDO:0014526","Autosomal recessive inheritance","","","","","definitive evidence (03/24/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5a4546e-f7a6-4d4a-bd0d-763e2b7dca74-2023-03-24T160000.000Z","General Inborn Errors of Metabolism","","",""
"GYS1","HGNC:4706","https://search.clinicalgenome.org/kb/genes/HGNC:4706","glycogen storage disease due to muscle and heart glycogen synthase deficiency","MONDO:0012693","https://search.clinicalgenome.org/kb/conditions/MONDO:0012693","Autosomal recessive inheritance","","","","","definitive evidence (02/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4b85c829-f66a-4c23-8a59-58f17bdaefb0-2024-02-12T190000.000Z","General Inborn Errors of Metabolism","","",""
"GYS2","HGNC:4707","https://search.clinicalgenome.org/kb/genes/HGNC:4707","glycogen storage disorder due to hepatic glycogen synthase deficiency","MONDO:0009414","https://search.clinicalgenome.org/kb/conditions/MONDO:0009414","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4707","Dosage Working Group","definitive evidence (03/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd645894-0fa6-4d63-8b8d-16731978ca6b-2024-03-22T160000.000Z","General Inborn Errors of Metabolism","","",""
"H1-4","HGNC:4718","https://search.clinicalgenome.org/kb/genes/HGNC:4718","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/27/2022)","0 - No Evidence for Triplosensitivity (07/27/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4718","Dosage Working Group","definitive evidence (05/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd0a9f58-4fb1-4904-9c38-c3e4b70c536e-2023-05-03T060000.000Z","Intellectual Disability and Autism","","",""
"H1-4","HGNC:4718","https://search.clinicalgenome.org/kb/genes/HGNC:4718","Rahman syndrome","MONDO:0044323","https://search.clinicalgenome.org/kb/conditions/MONDO:0044323","N/A","0 - No Evidence for Haploinsufficiency (07/27/2022)","0 - No Evidence for Triplosensitivity (07/27/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4718","Dosage Working Group","","","","","",""
"H3-3A","HGNC:4764","https://search.clinicalgenome.org/kb/genes/HGNC:4764","Bryant-Li-Bhoj neurodevelopmental syndrome 1","MONDO:0030606","https://search.clinicalgenome.org/kb/conditions/MONDO:0030606","Autosomal dominant inheritance","","","","","definitive evidence (03/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92b54362-8c84-407b-bf92-5f67bee55ed3-2024-03-19T160000.000Z","Syndromic Disorders","","",""
"H4C5","HGNC:4790","https://search.clinicalgenome.org/kb/genes/HGNC:4790","Tessadori-Van Haaften neurodevelopmental syndrome 3","MONDO:0030993","https://search.clinicalgenome.org/kb/conditions/MONDO:0030993","Autosomal dominant inheritance","","","","","strong evidence (03/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_934ff2db-b242-49d8-968f-08f8eb7b1310-2024-03-19T160000.000Z","Syndromic Disorders","","",""
"H6PD","HGNC:4795","https://search.clinicalgenome.org/kb/genes/HGNC:4795","cortisone reductase deficiency 1","MONDO:0011503","https://search.clinicalgenome.org/kb/conditions/MONDO:0011503","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4795","Dosage Working Group","","","","","",""
"HAAO","HGNC:4796","https://search.clinicalgenome.org/kb/genes/HGNC:4796","vertebral, cardiac, renal, and limb defects syndrome 1","MONDO:0060554","https://search.clinicalgenome.org/kb/conditions/MONDO:0060554","Autosomal recessive inheritance","","","","","definitive evidence (06/24/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89484d6b-0af1-4b77-9dcb-95c18331e3b7-2022-06-24T160000.000Z","Aminoacidopathy","","",""
"HACD1","HGNC:9639","https://search.clinicalgenome.org/kb/genes/HGNC:9639","congenital myopathy","MONDO:0019952","https://search.clinicalgenome.org/kb/conditions/MONDO:0019952","Autosomal recessive inheritance","","","","","definitive evidence (06/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10c52aaf-cd58-4448-bac7-12b653bfa962-2021-06-28T160000.000Z","Congenital Myopathies","","",""
"HADH","HGNC:4799","https://search.clinicalgenome.org/kb/genes/HGNC:4799","obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency","MONDO:0009278","https://search.clinicalgenome.org/kb/conditions/MONDO:0009278","Autosomal recessive inheritance","","","","","definitive evidence (06/26/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2f238b9-4eb5-426c-a27a-ecb7b468d9e4-2018-06-26T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"HADHA","HGNC:4801","https://search.clinicalgenome.org/kb/genes/HGNC:4801","long chain 3-hydroxyacyl-CoA dehydrogenase deficiency","MONDO:0012173","https://search.clinicalgenome.org/kb/conditions/MONDO:0012173","Autosomal recessive inheritance","","","","","definitive evidence (02/12/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8a5e15b-21f7-49cc-987c-5f3585742bbe-2018-02-12T170000.000Z","Fatty Acid Oxidation Disorders","Has Insufficient Evidence for Actionability Based on Early Rule-out (05/19/2021) | Moderate Actionability (05/19/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1039"," | "
"HADHA","HGNC:4801","https://search.clinicalgenome.org/kb/genes/HGNC:4801","mitochondrial trifunctional protein deficiency","MONDO:0012172","https://search.clinicalgenome.org/kb/conditions/MONDO:0012172","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (05/19/2021) | Moderate Actionability (05/19/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1039"," | "
"HADHB","HGNC:4803","https://search.clinicalgenome.org/kb/genes/HGNC:4803","mitochondrial trifunctional protein deficiency","MONDO:0012172","https://search.clinicalgenome.org/kb/conditions/MONDO:0012172","Autosomal recessive inheritance","","","","","definitive evidence (05/08/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_65cb0124-8476-422c-924f-15fac7c95592-2018-05-08T160000.000Z","Fatty Acid Oxidation Disorders","Has Insufficient Evidence for Actionability Based on Early Rule-out (05/19/2021) | Moderate Actionability (05/19/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1039"," | "
"HAL","HGNC:4806","https://search.clinicalgenome.org/kb/genes/HGNC:4806","histidinemia","MONDO:0009345","https://search.clinicalgenome.org/kb/conditions/MONDO:0009345","Autosomal recessive inheritance","","","","","limited evidence (11/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5764eb8-2aad-419e-be57-99f8c6859ebb-2023-11-17T170000.000Z","Aminoacidopathy","","",""
"HAMP","HGNC:15598","https://search.clinicalgenome.org/kb/genes/HGNC:15598","hemochromatosis type 2B","MONDO:0013220","https://search.clinicalgenome.org/kb/conditions/MONDO:0013220","Autosomal recessive inheritance","","","","","definitive evidence (10/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b814eee-9d88-4a9b-88bf-3e9b4e6613b1-2025-10-10T160000.000Z","General Inborn Errors of Metabolism","","",""
"HAND1","HGNC:4807","https://search.clinicalgenome.org/kb/genes/HGNC:4807","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","moderate evidence (04/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a70bdb1-a3fc-45c5-aabb-4d2829fa6f29-2023-04-04T160000.000Z","Congenital Heart Disease","","",""
"HAND2","HGNC:4808","https://search.clinicalgenome.org/kb/genes/HGNC:4808","HAND2 related congenital heart defect","MONDO:0800476","https://search.clinicalgenome.org/kb/conditions/MONDO:0800476","Autosomal dominant inheritance","","","","","moderate evidence (07/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29254c37-49c2-4d29-918f-c106989eadba-2023-07-17T160000.000Z","Congenital Heart Disease","","",""
"HARS1","HGNC:4816","https://search.clinicalgenome.org/kb/genes/HGNC:4816","Usher syndrome type 3","MONDO:0016485","https://search.clinicalgenome.org/kb/conditions/MONDO:0016485","Autosomal recessive inheritance","","","","","refuting evidence (02/27/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca3372fa-f205-44e5-8bd9-6c64c40ebd93-2018-02-27T170000.000Z","Hearing Loss","","",""
"HARS2","HGNC:4817","https://search.clinicalgenome.org/kb/genes/HGNC:4817","Perrault syndrome 2","MONDO:0013972","https://search.clinicalgenome.org/kb/conditions/MONDO:0013972","Autosomal recessive inheritance","","","","","limited evidence (05/15/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c5ed5f6-4068-4e15-a195-6098e4ee2093-2018-05-15T160000.000Z","Hearing Loss","","",""
"HAS2","HGNC:4819","https://search.clinicalgenome.org/kb/genes/HGNC:4819","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (11/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_613d44ec-b161-43e6-9571-eecf427dc8de-2023-11-27T170000.000Z","Congenital Heart Disease","","",""
"HAVCR2","HGNC:18437","https://search.clinicalgenome.org/kb/genes/HGNC:18437","HAVCR2-related cancer predisposition","MONDO:1060169","https://search.clinicalgenome.org/kb/conditions/MONDO:1060169","Autosomal recessive inheritance","","","","","moderate evidence (06/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ea863f9-c3e9-4b1a-95c4-ef2eb2444bbd-2025-06-10T160000.000Z","Childhood, Adolescent and Young Adult Cancer Predisposition","","",""
"HBA1","HGNC:4823","https://search.clinicalgenome.org/kb/genes/HGNC:4823","methemoglobinemia, alpha type","MONDO:0020835","https://search.clinicalgenome.org/kb/conditions/MONDO:0020835","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/19/2012)","0 - No Evidence for Triplosensitivity (04/19/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4823","Dosage Working Group","limited evidence (03/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_599e57aa-17fd-40f4-9e13-a1968e57e9ed-2024-03-28T160000.000Z","General Gene Curation","","",""
"HBA1","HGNC:4823","https://search.clinicalgenome.org/kb/genes/HGNC:4823","erythrocytosis, familial, 7","MONDO:0054802","https://search.clinicalgenome.org/kb/conditions/MONDO:0054802","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/19/2012)","0 - No Evidence for Triplosensitivity (04/19/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4823","Dosage Working Group","moderate evidence (10/25/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df23db1a-3b2f-497f-87c4-556c51e7bdd6-2023-10-25T160000.000Z","General Gene Curation","","",""
"HBA1","HGNC:4823","https://search.clinicalgenome.org/kb/genes/HGNC:4823","unstable hemoglobin disease","MONDO:0020459","https://search.clinicalgenome.org/kb/conditions/MONDO:0020459","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/19/2012)","0 - No Evidence for Triplosensitivity (04/19/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4823","Dosage Working Group","moderate evidence (11/22/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b58582d7-d863-4179-8e4d-76b8e70adde4-2023-11-22T170000.000Z","General Gene Curation","","",""
"HBA1","HGNC:4823","https://search.clinicalgenome.org/kb/genes/HGNC:4823","HBA1-related alpha thalassemia spectrum","MONDO:0100561","https://search.clinicalgenome.org/kb/conditions/MONDO:0100561","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/19/2012)","0 - No Evidence for Triplosensitivity (04/19/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4823","Dosage Working Group","definitive evidence (09/27/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f1f710c-a6b7-4a19-838c-30fc51a2c564-2024-09-27T160000.000Z","General Gene Curation","","",""
"HBA1","HGNC:4823","https://search.clinicalgenome.org/kb/genes/HGNC:4823","alpha thalassemia spectrum","MONDO:0011399","https://search.clinicalgenome.org/kb/conditions/MONDO:0011399","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (04/19/2012)","0 - No Evidence for Triplosensitivity (04/19/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4823","Dosage Working Group","","","","","",""
"HBA2","HGNC:4824","https://search.clinicalgenome.org/kb/genes/HGNC:4824","alpha thalassemia spectrum","MONDO:0011399","https://search.clinicalgenome.org/kb/conditions/MONDO:0011399","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4824","Dosage Working Group","definitive evidence (06/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab18a814-6fa8-4dc5-8448-9c2c196e24c7-2023-06-28T160000.000Z","General Gene Curation","","",""
"HBA2","HGNC:4824","https://search.clinicalgenome.org/kb/genes/HGNC:4824","methemoglobinemia, alpha type","MONDO:0020835","https://search.clinicalgenome.org/kb/conditions/MONDO:0020835","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4824","Dosage Working Group","limited evidence (03/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12bfc99c-f8d8-4045-98ba-17254b56decc-2024-03-28T160000.000Z","General Gene Curation","","",""
"HBA2","HGNC:4824","https://search.clinicalgenome.org/kb/genes/HGNC:4824","erythrocytosis, familial, 7","MONDO:0054802","https://search.clinicalgenome.org/kb/conditions/MONDO:0054802","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4824","Dosage Working Group","limited evidence (10/25/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6cd38d93-3dc1-429c-8f82-2269647f6bb5-2023-10-25T160000.000Z","General Gene Curation","","",""
"HBA2","HGNC:4824","https://search.clinicalgenome.org/kb/genes/HGNC:4824","unstable hemoglobin disease","MONDO:0020459","https://search.clinicalgenome.org/kb/conditions/MONDO:0020459","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4824","Dosage Working Group","limited evidence (02/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9ad31fe-ded5-4f1f-a8b4-f2d9a8e47b35-2024-02-28T170000.000Z","General Gene Curation","","",""
"HBB","HGNC:4827","https://search.clinicalgenome.org/kb/genes/HGNC:4827","dominant beta-thalassemia","MONDO:0011381","https://search.clinicalgenome.org/kb/conditions/MONDO:0011381","Autosomal dominant inheritance","","","","","definitive evidence (03/22/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b52b6f04-67a6-4c4b-9765-2067e3b1e297-2023-03-22T160000.000Z","General Gene Curation","","",""
"HBB","HGNC:4827","https://search.clinicalgenome.org/kb/genes/HGNC:4827","beta-thalassemia HBB/LCRB","MONDO:0013517","https://search.clinicalgenome.org/kb/conditions/MONDO:0013517","Autosomal recessive inheritance","","","","","definitive evidence (04/26/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10e10aac-d9cc-4422-8fb9-b206e642bb27-2023-04-26T160000.000Z","General Gene Curation","","",""
"HBB","HGNC:4827","https://search.clinicalgenome.org/kb/genes/HGNC:4827","obsolete sickle cell disease and related diseases","MONDO:0017146","https://search.clinicalgenome.org/kb/conditions/MONDO:0017146","Autosomal recessive inheritance","","","","","definitive evidence (08/23/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3648afbb-2a90-43f1-b572-0109fa188416-2023-08-23T160000.000Z","General Gene Curation","","",""
"HBB","HGNC:4827","https://search.clinicalgenome.org/kb/genes/HGNC:4827","hemoglobin M disease","MONDO:0018023","https://search.clinicalgenome.org/kb/conditions/MONDO:0018023","Autosomal dominant inheritance","","","","","definitive evidence (03/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1165f12f-3e9d-41c6-b7c4-1a52037cf017-2024-03-28T160000.000Z","General Gene Curation","","",""
"HBB","HGNC:4827","https://search.clinicalgenome.org/kb/genes/HGNC:4827","erythrocytosis, familial, 6","MONDO:0054801","https://search.clinicalgenome.org/kb/conditions/MONDO:0054801","Autosomal dominant inheritance","","","","","definitive evidence (09/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de05dd1c-d081-40d4-b2e2-47a590915609-2023-09-27T160000.000Z","General Gene Curation","","",""
"HBB","HGNC:4827","https://search.clinicalgenome.org/kb/genes/HGNC:4827","unstable hemoglobin disease","MONDO:0020459","https://search.clinicalgenome.org/kb/conditions/MONDO:0020459","Autosomal dominant inheritance","","","","","definitive evidence (02/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_814a7d4b-c79b-4f68-9873-0d8477ee95a2-2024-02-28T170000.000Z","General Gene Curation","","",""
"HBB","HGNC:4827","https://search.clinicalgenome.org/kb/genes/HGNC:4827","sickle cell disease","MONDO:0011382","https://search.clinicalgenome.org/kb/conditions/MONDO:0011382","N/A","","","","","","","","Definitive Actionability (11/08/2024) | Definitive Actionability (11/08/2024)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1081 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1081"," | "
"HCCS","HGNC:4837","https://search.clinicalgenome.org/kb/genes/HGNC:4837","linear skin defects with multiple congenital anomalies 1","MONDO:0024552","https://search.clinicalgenome.org/kb/conditions/MONDO:0024552","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/10/2012)","0 - No Evidence for Triplosensitivity (05/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4837","Dosage Working Group","","","","","",""
"HCFC1","HGNC:4839","https://search.clinicalgenome.org/kb/genes/HGNC:4839","X-linked intellectual disability","MONDO:0100284","https://search.clinicalgenome.org/kb/conditions/MONDO:0100284","X-linked inheritance","","","","","definitive evidence (03/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_023defeb-36f4-4e54-ba8f-e2c9537e933c-2021-03-17T160000.000Z","Intellectual Disability and Autism","","",""
"HCN1","HGNC:4845","https://search.clinicalgenome.org/kb/genes/HGNC:4845","generalized epilepsy with febrile seizures plus","MONDO:0018214","https://search.clinicalgenome.org/kb/conditions/MONDO:0018214","Autosomal dominant inheritance","","","","","definitive evidence (01/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0932fa23-e0d2-4fa8-80ac-1ab9bfac974d-2023-01-03T080000.000Z","Epilepsy","","",""
"HCN4","HGNC:16882","https://search.clinicalgenome.org/kb/genes/HGNC:16882","Brugada syndrome 1","MONDO:0011001","https://search.clinicalgenome.org/kb/conditions/MONDO:0011001","Autosomal dominant inheritance","","","","","disputing (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10150","Brugada Syndrome","","",""
"HCN4","HGNC:16882","https://search.clinicalgenome.org/kb/genes/HGNC:16882","sick sinus syndrome 2, autosomal dominant","MONDO:0008102","https://search.clinicalgenome.org/kb/conditions/MONDO:0008102","Autosomal dominant inheritance","","","","","definitive evidence (06/24/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c7f333b-2a94-42e9-a50e-b19240c3ccaf-2025-06-24T040000.000Z","Hereditary Cardiovascular Disease","","",""
"HDAC1","HGNC:4852","https://search.clinicalgenome.org/kb/genes/HGNC:4852","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (01/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_736390a5-ec08-4a25-b6ce-0d70dae98811-2024-01-08T170000.000Z","Congenital Heart Disease","","",""
"HDAC4","HGNC:14063","https://search.clinicalgenome.org/kb/genes/HGNC:14063","2q37 microdeletion syndrome","MONDO:0010886","https://search.clinicalgenome.org/kb/conditions/MONDO:0010886","N/A","1 - Little Evidence for Haploinsufficiency (07/16/2024)","0 - No Evidence for Triplosensitivity (07/16/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14063","Dosage Working Group","","","","","",""
"HDAC8","HGNC:13315","https://search.clinicalgenome.org/kb/genes/HGNC:13315","Cornelia de Lange syndrome","MONDO:0016033","https://search.clinicalgenome.org/kb/conditions/MONDO:0016033","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/28/2018)","0 - No Evidence for Triplosensitivity (03/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13315","Dosage Working Group","definitive evidence (09/10/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7d29159-4c90-488e-a4e1-b006d70ae762-2018-09-10T220000.000Z","Intellectual Disability and Autism","","",""
"HDAC8","HGNC:13315","https://search.clinicalgenome.org/kb/genes/HGNC:13315","Cornelia de Lange syndrome 5","MONDO:0010471","https://search.clinicalgenome.org/kb/conditions/MONDO:0010471","N/A","3 - Sufficient Evidence for Haploinsufficiency (03/28/2018)","0 - No Evidence for Triplosensitivity (03/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13315","Dosage Working Group","","","","","",""
"HECW2","HGNC:29853","https://search.clinicalgenome.org/kb/genes/HGNC:29853","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","definitive evidence (01/18/2023) | limited evidence (01/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_191cff25-f54c-4628-87f6-13a5daaec847-2023-01-18T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d23468a-c068-43cd-968e-56e71d941eef-2023-01-18T170000.000Z","Intellectual Disability and Autism | Intellectual Disability and Autism","","",""
"HELLS","HGNC:4861","https://search.clinicalgenome.org/kb/genes/HGNC:4861","immunodeficiency-centromeric instability-facial anomalies syndrome 4","MONDO:0014829","https://search.clinicalgenome.org/kb/conditions/MONDO:0014829","Autosomal recessive inheritance","","","","","moderate evidence (06/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9414c2ab-4eab-4ee0-9a68-ba78a5774f0a-2025-06-16T160000.000Z","SCID-CID","","",""
"HEPACAM","HGNC:26361","https://search.clinicalgenome.org/kb/genes/HGNC:26361","megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability","MONDO:0013491","https://search.clinicalgenome.org/kb/conditions/MONDO:0013491","Autosomal dominant inheritance","","","","","definitive evidence (01/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3da28582-9929-4fcd-8c77-13dc1705b168-2023-01-12T190000.000Z","Intellectual Disability and Autism","","",""
"HEPACAM","HGNC:26361","https://search.clinicalgenome.org/kb/genes/HGNC:26361","megalencephalic leukoencephalopathy with subcortical cysts 2A","MONDO:0013490","https://search.clinicalgenome.org/kb/conditions/MONDO:0013490","Autosomal recessive inheritance","","","","","definitive evidence (01/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7917eeb8-f47a-4828-80ce-ba18f697c6a0-2023-01-12T070000.000Z","Intellectual Disability and Autism","","",""
"HEPHL1","HGNC:30477","https://search.clinicalgenome.org/kb/genes/HGNC:30477","pili torti-developmental delay-neurological abnormalities syndrome","MONDO:0009871","https://search.clinicalgenome.org/kb/conditions/MONDO:0009871","Autosomal recessive inheritance","","","","","limited evidence (03/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8c2c601-82c8-44ed-b5ee-c86fa28db40a-2025-03-28T170000.000Z","General Inborn Errors of Metabolism","","",""
"HEXA","HGNC:4878","https://search.clinicalgenome.org/kb/genes/HGNC:4878","Tay-Sachs disease","MONDO:0010100","https://search.clinicalgenome.org/kb/conditions/MONDO:0010100","Autosomal recessive inheritance","","","","","definitive evidence (05/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f7530b5-af31-40f9-ac18-a1b4d404285a-2020-05-27T160000.000Z","General Gene Curation","","",""
"HEXB","HGNC:4879","https://search.clinicalgenome.org/kb/genes/HGNC:4879","Sandhoff disease","MONDO:0010006","https://search.clinicalgenome.org/kb/conditions/MONDO:0010006","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4879","Dosage Working Group","definitive evidence (09/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f53d03d-f936-4628-ab75-351ae4da012a-2022-09-15T160000.000Z","Lysosomal Diseases GCEP","","",""
"HEY1","HGNC:4880","https://search.clinicalgenome.org/kb/genes/HGNC:4880","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (08/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_634df453-b9c6-4b52-afc0-516603ef90d0-2024-08-06T160000.000Z","Congenital Heart Disease","","",""
"HEY2","HGNC:4881","https://search.clinicalgenome.org/kb/genes/HGNC:4881","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (07/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_402000e1-4aae-41f9-89b5-c5d12c1a0721-2024-07-02T050000.000Z","Congenital Heart Disease","","",""
"HFE","HGNC:4886","https://search.clinicalgenome.org/kb/genes/HGNC:4886","hemochromatosis type 1","MONDO:0021001","https://search.clinicalgenome.org/kb/conditions/MONDO:0021001","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/08/2024)","0 - No Evidence for Triplosensitivity (04/08/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4886","Dosage Working Group","definitive evidence (06/27/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e843028-ac7e-43ad-b95d-28566b000b58-2025-06-27T190000.000Z","General Inborn Errors of Metabolism","Has Insufficient Evidence for Actionability Based on Early Rule-out (11/18/2021) | Definitive Actionability (04/05/2016)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC114 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC114"," | "
"HFE","HGNC:4886","https://search.clinicalgenome.org/kb/genes/HGNC:4886","hereditary hemochromatosis","MONDO:0006507","https://search.clinicalgenome.org/kb/conditions/MONDO:0006507","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (04/08/2024)","0 - No Evidence for Triplosensitivity (04/08/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4886","Dosage Working Group","","","","","",""
"HFM1","HGNC:20193","https://search.clinicalgenome.org/kb/genes/HGNC:20193","premature ovarian failure 9","MONDO:0014322","https://search.clinicalgenome.org/kb/conditions/MONDO:0014322","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20193","Dosage Working Group","","","","","",""
"HGD","HGNC:4892","https://search.clinicalgenome.org/kb/genes/HGNC:4892","alkaptonuria","MONDO:0008753","https://search.clinicalgenome.org/kb/conditions/MONDO:0008753","Autosomal recessive inheritance","","","","","definitive evidence (06/29/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5186836d-d9c6-4829-a0c9-59548460d6f2-2020-06-29T174125.541Z","Aminoacidopathy","Moderate Actionability (10/03/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC156",""
"HGF","HGNC:4893","https://search.clinicalgenome.org/kb/genes/HGNC:4893","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4893","Dosage Working Group","moderate evidence (06/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8828a306-1262-4bbf-9661-f3d13d0f44a7-2024-06-25T160000.000Z","Hearing Loss","","",""
"HGF","HGNC:4893","https://search.clinicalgenome.org/kb/genes/HGNC:4893","autosomal recessive nonsyndromic hearing loss 39","MONDO:0012003","https://search.clinicalgenome.org/kb/conditions/MONDO:0012003","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4893","Dosage Working Group","","","","","",""
"HGSNAT","HGNC:26527","https://search.clinicalgenome.org/kb/genes/HGNC:26527","mucopolysaccharidosis type 3C","MONDO:0009657","https://search.clinicalgenome.org/kb/conditions/MONDO:0009657","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26527","Dosage Working Group","definitive evidence (12/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_943b7a75-eb7f-415b-ba80-de6b09cc5a43-2023-12-04T170000.000Z","Lysosomal Diseases GCEP","","",""
"HGSNAT","HGNC:26527","https://search.clinicalgenome.org/kb/genes/HGNC:26527","inherited retinal dystrophy","MONDO:0019118","https://search.clinicalgenome.org/kb/conditions/MONDO:0019118","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26527","Dosage Working Group","definitive evidence (04/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_272a3322-e047-4b37-9bfc-eea3e65ddb57-2024-04-04T160000.000Z","Retina","","",""
"HIBADH","HGNC:4907","https://search.clinicalgenome.org/kb/genes/HGNC:4907","3-hydroxyisobutyric aciduria","MONDO:0009371","https://search.clinicalgenome.org/kb/conditions/MONDO:0009371","Autosomal recessive inheritance","","","","","limited evidence (03/24/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9c11f5a-a86b-4d60-ba51-7c2c8592f60a-2023-03-24T160000.000Z","Aminoacidopathy","","",""
"HIBCH","HGNC:4908","https://search.clinicalgenome.org/kb/genes/HGNC:4908","3-hydroxyisobutyryl-CoA hydrolase deficiency","MONDO:0009603","https://search.clinicalgenome.org/kb/conditions/MONDO:0009603","Autosomal recessive inheritance","","","","","definitive evidence (11/07/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26621ace-7c6b-4a1c-8286-02c4cb8a1544-2019-11-07T222437.403Z","Aminoacidopathy","","",""
"HIBCH","HGNC:4908","https://search.clinicalgenome.org/kb/genes/HGNC:4908","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","definitive evidence (06/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_079ed613-0c28-494f-9852-9baf495f26ba-2021-06-14T142317.786Z","Mitochondrial Diseases","","",""
"HIKESHI","HGNC:26938","https://search.clinicalgenome.org/kb/genes/HGNC:26938","hypomyelinating leukodystrophy 13","MONDO:0014813","https://search.clinicalgenome.org/kb/conditions/MONDO:0014813","Autosomal recessive inheritance","","","","","definitive evidence (11/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aaeeceab-84bc-471c-b8f2-8286d3781398-2024-11-14T170000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"HINT1","HGNC:4912","https://search.clinicalgenome.org/kb/genes/HGNC:4912","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Autosomal recessive inheritance","","","","","definitive evidence (03/22/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_170aae71-9b16-49b1-be29-44f98db2f72e-2021-03-22T201109.360Z","Charcot-Marie-Tooth","","",""
"HIVEP2","HGNC:4921","https://search.clinicalgenome.org/kb/genes/HGNC:4921","intellectual disability, autosomal dominant 43","MONDO:0014858","https://search.clinicalgenome.org/kb/conditions/MONDO:0014858","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/25/2018)","0 - No Evidence for Triplosensitivity (04/25/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4921","Dosage Working Group","","","","","",""
"HIVEP3","HGNC:13561","https://search.clinicalgenome.org/kb/genes/HGNC:13561","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (01/23/2019)","0 - No Evidence for Triplosensitivity (01/23/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13561","Dosage Working Group","","","","","",""
"HJV","HGNC:4887","https://search.clinicalgenome.org/kb/genes/HGNC:4887","hemochromatosis type 2A","MONDO:0011216","https://search.clinicalgenome.org/kb/conditions/MONDO:0011216","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4887","Dosage Working Group","definitive evidence (07/11/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_75f1b8de-7c82-4cb1-923a-8fb8827c8b15-2025-07-11T070000.000Z","General Inborn Errors of Metabolism","","",""
"HLCS","HGNC:4976","https://search.clinicalgenome.org/kb/genes/HGNC:4976","holocarboxylase synthetase deficiency","MONDO:0009666","https://search.clinicalgenome.org/kb/conditions/MONDO:0009666","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4976","Dosage Working Group","definitive evidence (02/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad306285-9588-48e3-a6fa-183db3f01fe9-2021-02-26T171131.548Z","Aminoacidopathy","","",""
"HMBS","HGNC:4982","https://search.clinicalgenome.org/kb/genes/HGNC:4982","acute intermittent porphyria","MONDO:0008294","https://search.clinicalgenome.org/kb/conditions/MONDO:0008294","Semidominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/08/2020)","0 - No Evidence for Triplosensitivity (01/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4982","Dosage Working Group","definitive evidence (05/27/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eab4b1f6-2902-4ed3-9002-37c578aeaaba-2022-05-27T160000.000Z","General Inborn Errors of Metabolism","Moderate Actionability (09/07/2023) | Strong Actionability (09/07/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC095 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC095"," | "
"HMGA2","HGNC:5009","https://search.clinicalgenome.org/kb/genes/HGNC:5009","Silver-Russell syndrome 5","MONDO:0020795","https://search.clinicalgenome.org/kb/conditions/MONDO:0020795","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (09/14/2021)","0 - No Evidence for Triplosensitivity (09/14/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5009","Dosage Working Group","definitive evidence (06/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_787996f0-15fe-4c59-856a-119c792e9674-2025-06-20T160000.000Z","Syndromic Disorders","","",""
"HMGCL","HGNC:5005","https://search.clinicalgenome.org/kb/genes/HGNC:5005","3-hydroxy-3-methylglutaric aciduria","MONDO:0009520","https://search.clinicalgenome.org/kb/conditions/MONDO:0009520","Autosomal recessive inheritance","","","","","definitive evidence (06/26/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4d084e5-a740-4bfd-a850-d6db900d4a4e-2018-06-26T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"HMGCR","HGNC:5006","https://search.clinicalgenome.org/kb/genes/HGNC:5006","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","","","","","moderate evidence (08/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83df8b99-e09d-4460-8b77-ec656d47882a-2024-08-13T190000.000Z","Muscular Dystrophies and Myopathies","","",""
"HMGCS2","HGNC:5008","https://search.clinicalgenome.org/kb/genes/HGNC:5008","3-hydroxy-3-methylglutaryl-CoA synthase deficiency","MONDO:0011614","https://search.clinicalgenome.org/kb/conditions/MONDO:0011614","Autosomal recessive inheritance","","","","","definitive evidence (05/22/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3f49254-4635-4961-83b9-31c7ebc7f159-2018-05-22T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"HMOX1","HGNC:5013","https://search.clinicalgenome.org/kb/genes/HGNC:5013","heme oxygenase 1 deficiency","MONDO:0013536","https://search.clinicalgenome.org/kb/conditions/MONDO:0013536","Autosomal recessive inheritance","","","","","strong evidence (12/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f1a1080-6e62-4c89-9500-e5c74e078e06-2023-12-20T190000.000Z","General Inborn Errors of Metabolism","","",""
"HMX1","HGNC:5017","https://search.clinicalgenome.org/kb/genes/HGNC:5017","oculoauricular syndrome","MONDO:0012802","https://search.clinicalgenome.org/kb/conditions/MONDO:0012802","Autosomal recessive inheritance","","","","","definitive evidence (05/06/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebf66ec9-77a4-4e48-83a4-970639ad5373-2021-05-06T160000.000Z","Retina","","",""
"HNF1A","HGNC:11621","https://search.clinicalgenome.org/kb/genes/HGNC:11621","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/13/2023)","0 - No Evidence for Triplosensitivity (12/13/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11621","Dosage Working Group","definitive evidence (10/05/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f6d71c6-6595-49bf-a50e-fce726b22088-2018-10-05T160000.000Z","Monogenic Diabetes","Strong Actionability (12/22/2022) | Strong Actionability (12/22/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC075 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC075"," | "
"HNF1A","HGNC:11621","https://search.clinicalgenome.org/kb/genes/HGNC:11621","maturity-onset diabetes of the young type 3","MONDO:0010894","https://search.clinicalgenome.org/kb/conditions/MONDO:0010894","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/13/2023)","0 - No Evidence for Triplosensitivity (12/13/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11621","Dosage Working Group","","","","Strong Actionability (12/22/2022) | Strong Actionability (12/22/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC075 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC075"," | "
"HNF1A","HGNC:11621","https://search.clinicalgenome.org/kb/genes/HGNC:11621","maturity-onset diabetes of the young","MONDO:0018911","https://search.clinicalgenome.org/kb/conditions/MONDO:0018911","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/13/2023)","0 - No Evidence for Triplosensitivity (12/13/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11621","Dosage Working Group","","","","Strong Actionability (12/22/2022) | Strong Actionability (12/22/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC075 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC075"," | "
"HNF1B","HGNC:11630","https://search.clinicalgenome.org/kb/genes/HGNC:11630","renal cysts and diabetes syndrome","MONDO:0007669","https://search.clinicalgenome.org/kb/conditions/MONDO:0007669","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/21/2020)","0 - No Evidence for Triplosensitivity (12/21/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11630","Dosage Working Group","definitive evidence (01/19/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4174ea0a-6901-4070-ad93-d92614fd55c0-2021-01-19T170000.000Z","Monogenic Diabetes","Strong Actionability (02/05/2024) | Moderate Actionability (02/05/2024)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1048 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1048"," | "
"HNF4A","HGNC:5024","https://search.clinicalgenome.org/kb/genes/HGNC:5024","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/23/2025)","0 - No Evidence for Triplosensitivity (07/23/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5024","Dosage Working Group","definitive evidence (02/27/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98cb808e-02d3-4378-8e6b-9b1b2883cc65-2019-02-27T170000.000Z","Monogenic Diabetes","Strong Actionability (12/22/2022) | Moderate Actionability (12/22/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC075 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC075"," | "
"HNF4A","HGNC:5024","https://search.clinicalgenome.org/kb/genes/HGNC:5024","maturity-onset diabetes of the young","MONDO:0018911","https://search.clinicalgenome.org/kb/conditions/MONDO:0018911","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/23/2025)","0 - No Evidence for Triplosensitivity (07/23/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5024","Dosage Working Group","","","","Strong Actionability (12/22/2022) | Moderate Actionability (12/22/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC075 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC075"," | "
"HNF4A","HGNC:5024","https://search.clinicalgenome.org/kb/genes/HGNC:5024","maturity-onset diabetes of the young type 1","MONDO:0007452","https://search.clinicalgenome.org/kb/conditions/MONDO:0007452","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/23/2025)","0 - No Evidence for Triplosensitivity (07/23/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5024","Dosage Working Group","","","","Strong Actionability (12/22/2022) | Moderate Actionability (12/22/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC075 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC075"," | "
"HNRNPA2B1","HGNC:5033","https://search.clinicalgenome.org/kb/genes/HGNC:5033","inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2","MONDO:0014178","https://search.clinicalgenome.org/kb/conditions/MONDO:0014178","Autosomal dominant inheritance","","","","","moderate evidence (10/24/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ffe711b-1ff6-4b11-b329-c0f820904764-2024-10-24T190000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"HNRNPC","HGNC:5035","https://search.clinicalgenome.org/kb/genes/HGNC:5035","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (11/29/2023)","0 - No Evidence for Triplosensitivity (11/29/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5035","Dosage Working Group","","","","","",""
"HNRNPD","HGNC:5036","https://search.clinicalgenome.org/kb/genes/HGNC:5036","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (10/17/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62010463-fbc6-4820-92d7-711d6eb0a6ca-2025-10-17T100000.000Z","Intellectual Disability and Autism","","",""
"HNRNPDL","HGNC:5037","https://search.clinicalgenome.org/kb/genes/HGNC:5037","muscular dystrophy, limb-girdle, autosomal dominant","MONDO:0015151","https://search.clinicalgenome.org/kb/conditions/MONDO:0015151","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (04/08/2025)","0 - No Evidence for Triplosensitivity (04/08/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5037","Dosage Working Group","definitive evidence (01/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10c69d38-c981-4679-81ab-c656f435e1ed-2025-01-14T050000.000Z","Muscular Dystrophies and Myopathies","","",""
"HNRNPH1","HGNC:5041","https://search.clinicalgenome.org/kb/genes/HGNC:5041","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","","","","","definitive evidence (10/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f2118bc4-a101-4c93-b7b7-72c202a73e20-2024-10-16T040000.000Z","Intellectual Disability and Autism","","",""
"HNRNPH2","HGNC:5042","https://search.clinicalgenome.org/kb/genes/HGNC:5042","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","","","","","definitive evidence (06/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e303e734-0f37-4906-bc96-ca8e7f2d21b5-2024-06-13T100000.000Z","Intellectual Disability and Autism","","",""
"HNRNPK","HGNC:5044","https://search.clinicalgenome.org/kb/genes/HGNC:5044","neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome","MONDO:0018681","https://search.clinicalgenome.org/kb/conditions/MONDO:0018681","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/23/2023)","0 - No Evidence for Triplosensitivity (08/23/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5044","Dosage Working Group","definitive evidence (12/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1adc74c-9bbc-48fc-bbbf-1159c0944108-2021-12-21T110000.000Z","Intellectual Disability and Autism","","",""
"HNRNPR","HGNC:5047","https://search.clinicalgenome.org/kb/genes/HGNC:5047","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","","","","","definitive evidence (05/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_457f4be2-fe32-4878-b367-7fa614f78c63-2023-05-03T160000.000Z","Intellectual Disability and Autism","","",""
"HNRNPU","HGNC:5048","https://search.clinicalgenome.org/kb/genes/HGNC:5048","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/27/2024)","0 - No Evidence for Triplosensitivity (11/27/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5048","Dosage Working Group","definitive evidence (10/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2c82248-c128-4d3e-802a-7f3295d14455-2022-10-11T100000.000Z","Intellectual Disability and Autism","","",""
"HOGA1","HGNC:25155","https://search.clinicalgenome.org/kb/genes/HGNC:25155","primary hyperoxaluria type 3","MONDO:0013327","https://search.clinicalgenome.org/kb/conditions/MONDO:0013327","Autosomal recessive inheritance","","","","","definitive evidence (05/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c6ee29c-08c1-4cdd-b78d-9a5bda8ace20-2024-05-16T160000.000Z","Tubulopathy","","",""
"HOMER2","HGNC:17513","https://search.clinicalgenome.org/kb/genes/HGNC:17513","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","moderate evidence (08/31/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9158c2a6-f11b-47b4-ac7d-45471f7255a1-2020-08-31T170000.000Z","Hearing Loss","","",""
"HOXA1","HGNC:5099","https://search.clinicalgenome.org/kb/genes/HGNC:5099","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal recessive inheritance","","","","","definitive evidence (06/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e0e605f-c82a-4e34-b913-8dc6b72b4881-2019-06-19T160000.000Z","Intellectual Disability and Autism","","",""
"HOXA11","HGNC:5101","https://search.clinicalgenome.org/kb/genes/HGNC:5101","radioulnar synostosis with amegakaryocytic thrombocytopenia 1","MONDO:0024558","https://search.clinicalgenome.org/kb/conditions/MONDO:0024558","Autosomal dominant inheritance","","","","","limited evidence (09/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48ef111f-28fc-4970-a0ca-8387e9ec2d0e-2024-09-04T160000.000Z","Hemostasis Thrombosis","","",""
"HOXD13","HGNC:5136","https://search.clinicalgenome.org/kb/genes/HGNC:5136","synpolydactyly type 1","MONDO:0008513","https://search.clinicalgenome.org/kb/conditions/MONDO:0008513","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/23/2020)","0 - No Evidence for Triplosensitivity (09/23/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5136","Dosage Working Group","","","","","",""
"HPCA","HGNC:5144","https://search.clinicalgenome.org/kb/genes/HGNC:5144","complex movement disorder with or without neurodevelopmental features","MONDO:1060159","https://search.clinicalgenome.org/kb/conditions/MONDO:1060159","Autosomal recessive inheritance","","","","","definitive evidence (10/02/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34c1a5a5-069e-489a-a9f2-215b4482bc43-2025-10-02T160000.000Z","Cerebral Palsy","","",""
"HPD","HGNC:5147","https://search.clinicalgenome.org/kb/genes/HGNC:5147","tyrosinemia type III","MONDO:0010162","https://search.clinicalgenome.org/kb/conditions/MONDO:0010162","Autosomal recessive inheritance","","","","","definitive evidence (06/29/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89eb4236-9243-490b-bc73-fb3b99675eb9-2020-06-29T173606.841Z","Aminoacidopathy","","",""
"HPD","HGNC:5147","https://search.clinicalgenome.org/kb/genes/HGNC:5147","hawkinsinuria","MONDO:0007700","https://search.clinicalgenome.org/kb/conditions/MONDO:0007700","Autosomal dominant inheritance","","","","","limited evidence (11/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6819b0ea-9f21-4f91-ae92-133d97fcf87b-2023-11-17T170000.000Z","Aminoacidopathy","","",""
"HPDL","HGNC:28242","https://search.clinicalgenome.org/kb/genes/HGNC:28242","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (06/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1a484ba-cba2-4a63-8c81-7a8a41c93f9c-2021-06-30T215754.231Z","Mitochondrial Diseases","","",""
"HPGD","HGNC:5154","https://search.clinicalgenome.org/kb/genes/HGNC:5154","hypertrophic osteoarthropathy, primary, autosomal recessive, 1","MONDO:0024546","https://search.clinicalgenome.org/kb/conditions/MONDO:0024546","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5154","Dosage Working Group","","","","","",""
"HPRT1","HGNC:5157","https://search.clinicalgenome.org/kb/genes/HGNC:5157","Lesch-Nyhan syndrome","MONDO:0010298","https://search.clinicalgenome.org/kb/conditions/MONDO:0010298","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/13/2021)","0 - No Evidence for Triplosensitivity (01/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5157","Dosage Working Group","definitive evidence (07/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f60022bb-5679-4766-ac72-2ddfd0b752ee-2022-07-07T220000.000Z","Intellectual Disability and Autism","","",""
"HPS1","HGNC:5163","https://search.clinicalgenome.org/kb/genes/HGNC:5163","Hermansky-Pudlak syndrome 1","MONDO:0008748","https://search.clinicalgenome.org/kb/conditions/MONDO:0008748","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5163","Dosage Working Group","definitive evidence (07/22/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6d44a89-527f-4864-a1e1-dcd0a17000ca-2019-07-22T142842.174Z","Hemostasis Thrombosis","","",""
"HPS3","HGNC:15597","https://search.clinicalgenome.org/kb/genes/HGNC:15597","Hermansky-Pudlak syndrome 3","MONDO:0013555","https://search.clinicalgenome.org/kb/conditions/MONDO:0013555","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15597","Dosage Working Group","definitive evidence (02/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80370671-df62-4330-89f4-216d350e5958-2020-02-26T170000.000Z","Hemostasis Thrombosis","","",""
"HPS4","HGNC:15844","https://search.clinicalgenome.org/kb/genes/HGNC:15844","Hermansky-Pudlak syndrome 4","MONDO:0013556","https://search.clinicalgenome.org/kb/conditions/MONDO:0013556","Autosomal recessive inheritance","","","","","definitive evidence (05/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3649fe18-730d-4d46-ad60-b70d421abc02-2020-05-27T160000.000Z","Hemostasis Thrombosis","","",""
"HPS5","HGNC:17022","https://search.clinicalgenome.org/kb/genes/HGNC:17022","Hermansky-Pudlak syndrome 5","MONDO:0013557","https://search.clinicalgenome.org/kb/conditions/MONDO:0013557","Autosomal recessive inheritance","","","","","definitive evidence (10/28/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a761e746-824f-496c-8d9f-4f8cd50423c3-2020-10-28T160000.000Z","Hemostasis Thrombosis","","",""
"HPS6","HGNC:18817","https://search.clinicalgenome.org/kb/genes/HGNC:18817","Hermansky-Pudlak syndrome 6","MONDO:0013558","https://search.clinicalgenome.org/kb/conditions/MONDO:0013558","Autosomal recessive inheritance","","","","","definitive evidence (11/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_602ae8f1-9e7f-4cc6-bf70-d572d98828c5-2020-11-25T170000.000Z","Hemostasis Thrombosis","","",""
"HPSE2","HGNC:18374","https://search.clinicalgenome.org/kb/genes/HGNC:18374","urofacial syndrome type 1","MONDO:0009368","https://search.clinicalgenome.org/kb/conditions/MONDO:0009368","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/12/2015)","0 - No Evidence for Triplosensitivity (03/12/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18374","Dosage Working Group","","","","","",""
"HRAS","HGNC:5173","https://search.clinicalgenome.org/kb/genes/HGNC:5173","Noonan syndrome-like disorder with loose anagen hair","MONDO:0011899","https://search.clinicalgenome.org/kb/conditions/MONDO:0011899","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/15/2024)","0 - No Evidence for Triplosensitivity (07/15/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5173","Dosage Working Group","disputing (07/25/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94630309-c540-48b3-a27f-0ee1891091c1-2018-07-25T160000.000Z","RASopathy","","",""
"HRAS","HGNC:5173","https://search.clinicalgenome.org/kb/genes/HGNC:5173","Costello syndrome","MONDO:0009026","https://search.clinicalgenome.org/kb/conditions/MONDO:0009026","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/15/2024)","0 - No Evidence for Triplosensitivity (07/15/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5173","Dosage Working Group","definitive evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a40ab43-3c9f-45c0-9ec0-0371d6f0d5c8-2018-07-24T160000.000Z","RASopathy","","",""
"HRG","HGNC:5181","https://search.clinicalgenome.org/kb/genes/HGNC:5181","hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency","MONDO:0013143","https://search.clinicalgenome.org/kb/conditions/MONDO:0013143","Autosomal dominant inheritance","","","","","moderate evidence (02/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2604a64-e36e-4512-83a7-e8202ccdb593-2024-02-05T180000.000Z","Hemostasis Thrombosis","","",""
"HSD11B2","HGNC:5209","https://search.clinicalgenome.org/kb/genes/HGNC:5209","apparent mineralocorticoid excess","MONDO:0009025","https://search.clinicalgenome.org/kb/conditions/MONDO:0009025","Autosomal recessive inheritance","","","","","definitive evidence (05/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8170a26-6ee5-4acc-bdb2-388097413f3a-2024-05-16T160000.000Z","Tubulopathy","","",""
"HSD17B10","HGNC:4800","https://search.clinicalgenome.org/kb/genes/HGNC:4800","HSD10 mitochondrial disease","MONDO:0010327","https://search.clinicalgenome.org/kb/conditions/MONDO:0010327","X-linked inheritance","0 - No Evidence for Haploinsufficiency (09/06/2012)","0 - No Evidence for Triplosensitivity (09/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4800","Dosage Working Group","definitive evidence (10/09/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9232b352-a845-4404-8a98-34cb6ad6ff0e-2018-10-09T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"HSD17B3","HGNC:5212","https://search.clinicalgenome.org/kb/genes/HGNC:5212","46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","MONDO:0009916","https://search.clinicalgenome.org/kb/conditions/MONDO:0009916","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5212","Dosage Working Group","","","","","",""
"HSD17B4","HGNC:5213","https://search.clinicalgenome.org/kb/genes/HGNC:5213","Perrault syndrome","MONDO:0017312","https://search.clinicalgenome.org/kb/conditions/MONDO:0017312","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/06/2018)","0 - No Evidence for Triplosensitivity (03/06/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5213","Dosage Working Group","definitive evidence (05/22/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbc9308c-2310-4e0a-9354-667dbd3c7d5d-2018-05-22T160000.000Z","Hearing Loss","","",""
"HSD17B4","HGNC:5213","https://search.clinicalgenome.org/kb/genes/HGNC:5213","d-bifunctional protein deficiency","MONDO:0009855","https://search.clinicalgenome.org/kb/conditions/MONDO:0009855","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/06/2018)","0 - No Evidence for Triplosensitivity (03/06/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5213","Dosage Working Group","definitive evidence (04/17/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b992de69-49b3-496d-a83a-5bcc427fdf98-2020-04-17T160000.000Z","Peroxisomal Disorders","","",""
"HSD17B4","HGNC:5213","https://search.clinicalgenome.org/kb/genes/HGNC:5213","Perrault syndrome 1","MONDO:0009300","https://search.clinicalgenome.org/kb/conditions/MONDO:0009300","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/06/2018)","0 - No Evidence for Triplosensitivity (03/06/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5213","Dosage Working Group","","","","","",""
"HSD3B7","HGNC:18324","https://search.clinicalgenome.org/kb/genes/HGNC:18324","congenital bile acid synthesis defect 1","MONDO:0011906","https://search.clinicalgenome.org/kb/conditions/MONDO:0011906","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18324","Dosage Working Group","definitive evidence (07/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca1a2268-641c-422f-b065-8866af654d94-2022-07-11T160000.000Z","General Inborn Errors of Metabolism","","",""
"HSPB1","HGNC:5246","https://search.clinicalgenome.org/kb/genes/HGNC:5246","Charcot-Marie-Tooth disease axonal type 2F","MONDO:0011687","https://search.clinicalgenome.org/kb/conditions/MONDO:0011687","Autosomal dominant inheritance","","","","","definitive evidence (08/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bec365e-7832-41f1-89cc-48b8ab570c76-2022-08-03T160000.000Z","Charcot-Marie-Tooth","","",""
"HSPB8","HGNC:30171","https://search.clinicalgenome.org/kb/genes/HGNC:30171","neuronopathy, distal hereditary motor, autosomal dominant","MONDO:0015362","https://search.clinicalgenome.org/kb/conditions/MONDO:0015362","Autosomal dominant inheritance","","","","","definitive evidence (03/22/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_044a2465-8e0a-44ff-8d00-1ec3a76183c8-2021-03-22T201855.441Z","Charcot-Marie-Tooth","","",""
"HSPG2","HGNC:5273","https://search.clinicalgenome.org/kb/genes/HGNC:5273","Schwartz-Jampel syndrome type 1","MONDO:0100435","https://search.clinicalgenome.org/kb/conditions/MONDO:0100435","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/02/2016)","0 - No Evidence for Triplosensitivity (06/02/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5273","Dosage Working Group","definitive evidence (05/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a69e83a2-d914-4829-b285-c0ab0e4798d3-2022-05-21T030306.062Z","Syndromic Disorders","","",""
"HSPG2","HGNC:5273","https://search.clinicalgenome.org/kb/genes/HGNC:5273","Silverman-Handmaker type dyssegmental dysplasia","MONDO:0009140","https://search.clinicalgenome.org/kb/conditions/MONDO:0009140","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/02/2016)","0 - No Evidence for Triplosensitivity (06/02/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5273","Dosage Working Group","definitive evidence (05/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b601b27a-7ba4-4111-a524-b55cbb86eaa5-2022-05-21T030011.112Z","Syndromic Disorders","","",""
"HSPG2","HGNC:5273","https://search.clinicalgenome.org/kb/genes/HGNC:5273","Schwartz-Jampel syndrome","MONDO:0009717","https://search.clinicalgenome.org/kb/conditions/MONDO:0009717","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (06/02/2016)","0 - No Evidence for Triplosensitivity (06/02/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5273","Dosage Working Group","","","","","",""
"HTRA2","HGNC:14348","https://search.clinicalgenome.org/kb/genes/HGNC:14348","3-methylglutaconic aciduria type 8","MONDO:0044723","https://search.clinicalgenome.org/kb/conditions/MONDO:0044723","Autosomal recessive inheritance","","","","","definitive evidence (07/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0e86ea2-d848-442c-8bef-0818e39f3752-2022-07-11T160000.000Z","General Inborn Errors of Metabolism","","",""
"HTT","HGNC:4851","https://search.clinicalgenome.org/kb/genes/HGNC:4851","Huntington disease","MONDO:0007739","https://search.clinicalgenome.org/kb/conditions/MONDO:0007739","Autosomal dominant inheritance","","","","","definitive evidence (11/08/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_617c18ee-9476-4bc0-b403-20bc55150c7c-2021-11-08T193955.489Z","General Gene Curation","","",""
"HUWE1","HGNC:30892","https://search.clinicalgenome.org/kb/genes/HGNC:30892","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","0 - No Evidence for Haploinsufficiency (09/26/2018)","0 - No Evidence for Triplosensitivity (09/26/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30892","Dosage Working Group","definitive evidence (10/20/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ded2ea2f-63ff-428a-8061-7c62c276163b-2017-10-20T160000.000Z","Intellectual Disability and Autism","","",""
"HUWE1","HGNC:30892","https://search.clinicalgenome.org/kb/genes/HGNC:30892","intellectual disability, X-linked syndromic, Turner type","MONDO:0010407","https://search.clinicalgenome.org/kb/conditions/MONDO:0010407","N/A","0 - No Evidence for Haploinsufficiency (09/26/2018)","0 - No Evidence for Triplosensitivity (09/26/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30892","Dosage Working Group","","","","","",""
"HYAL1","HGNC:5320","https://search.clinicalgenome.org/kb/genes/HGNC:5320","mucopolysaccharidosis type 9","MONDO:0011093","https://search.clinicalgenome.org/kb/conditions/MONDO:0011093","Autosomal recessive inheritance","","","","","moderate evidence (09/12/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01141943-dabb-4218-a147-657c69679ec3-2025-09-12T040000.000Z","Lysosomal Diseases GCEP","","",""
"HYCC1","HGNC:24587","https://search.clinicalgenome.org/kb/genes/HGNC:24587","hypomyelinating leukodystrophy 5","MONDO:0012514","https://search.clinicalgenome.org/kb/conditions/MONDO:0012514","Autosomal recessive inheritance","","","","","definitive evidence (03/13/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1717e62b-6b1e-47fd-a335-de3fd597f7a4-2025-03-13T160000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"HYDIN","HGNC:19368","https://search.clinicalgenome.org/kb/genes/HGNC:19368","primary ciliary dyskinesia 5","MONDO:0012088","https://search.clinicalgenome.org/kb/conditions/MONDO:0012088","Autosomal recessive inheritance","","","","","definitive evidence (02/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c491ab7-496f-43b9-9bca-500901cb686d-2022-02-22T183411.247Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"HYKK","HGNC:34403","https://search.clinicalgenome.org/kb/genes/HGNC:34403","inborn disorder of lysine and hydroxylysine metabolism","MONDO:0017351","https://search.clinicalgenome.org/kb/conditions/MONDO:0017351","Mode of inheritance","","","","","no known disease relationship (07/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60c28393-bd46-4da4-9700-ce2fb005377b-2023-07-14T160000.000Z","Aminoacidopathy","","",""
"HYLS1","HGNC:26558","https://search.clinicalgenome.org/kb/genes/HGNC:26558","hydrolethalus syndrome","MONDO:0006037","https://search.clinicalgenome.org/kb/conditions/MONDO:0006037","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26558","Dosage Working Group","moderate evidence (08/13/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1be90c8e-071c-443b-9f30-807b6f3b71ce-2025-08-13T160000.000Z","Prenatal","","",""
"HYLS1","HGNC:26558","https://search.clinicalgenome.org/kb/genes/HGNC:26558","hydrolethalus syndrome 1","MONDO:0009365","https://search.clinicalgenome.org/kb/conditions/MONDO:0009365","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26558","Dosage Working Group","","","","","",""
"HYOU1","HGNC:16931","https://search.clinicalgenome.org/kb/genes/HGNC:16931","granulocytopenia with immunoglobulin abnormality","MONDO:0009305","https://search.clinicalgenome.org/kb/conditions/MONDO:0009305","Autosomal recessive inheritance","","","","","limited evidence (01/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1d9da94-991f-4fea-aabe-484578dfb2eb-2025-01-21T170000.000Z","Primary Immune Regulatory Disorders","","",""
"IARS2","HGNC:29685","https://search.clinicalgenome.org/kb/genes/HGNC:29685","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (11/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50877212-c671-406b-8cb6-195c7369a96c-2019-11-25T154442.667Z","Mitochondrial Diseases","","",""
"IBA57","HGNC:27302","https://search.clinicalgenome.org/kb/genes/HGNC:27302","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (07/11/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a005d270-eb33-4843-9ea8-2ee58f443437-2023-07-11T160000.000Z","Mitochondrial Diseases","","",""
"ICOS","HGNC:5351","https://search.clinicalgenome.org/kb/genes/HGNC:5351","common variable immunodeficiency","MONDO:0015517","https://search.clinicalgenome.org/kb/conditions/MONDO:0015517","Autosomal recessive inheritance","","","","","definitive evidence (11/29/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51864ec9-27d9-4a94-9524-d6828b17361d-2022-11-29T170000.000Z","Antibody Deficiencies GCEP","","",""
"ICOSLG","HGNC:17087","https://search.clinicalgenome.org/kb/genes/HGNC:17087","combined immunodeficiency","MONDO:0015131","https://search.clinicalgenome.org/kb/conditions/MONDO:0015131","Autosomal recessive inheritance","","","","","moderate evidence (04/25/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_312b156d-fc56-48da-9d10-1cd034afbb84-2023-04-25T160000.000Z","Antibody Deficiencies GCEP","","",""
"ID2","HGNC:5361","https://search.clinicalgenome.org/kb/genes/HGNC:5361","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (11/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e68cc0e-bb24-4363-a94e-858cf4c43de5-2023-11-27T050000.000Z","Congenital Heart Disease","","",""
"IDH2","HGNC:5383","https://search.clinicalgenome.org/kb/genes/HGNC:5383","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal dominant inheritance","","","","","definitive evidence (01/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91787b5b-8185-48e6-a437-9162c039b454-2023-01-30T170000.000Z","Mitochondrial Diseases","","",""
"IDH3B","HGNC:5385","https://search.clinicalgenome.org/kb/genes/HGNC:5385","IDH3B-related retinopathy","MONDO:0800393","https://search.clinicalgenome.org/kb/conditions/MONDO:0800393","Autosomal recessive inheritance","","","","","moderate evidence (12/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5617e337-aa89-44a0-afe0-e142ced68619-2022-12-01T170000.000Z","Retina","","",""
"IDS","HGNC:5389","https://search.clinicalgenome.org/kb/genes/HGNC:5389","mucopolysaccharidosis type 2","MONDO:0010674","https://search.clinicalgenome.org/kb/conditions/MONDO:0010674","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/10/2020)","0 - No Evidence for Triplosensitivity (11/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5389","Dosage Working Group","definitive evidence (02/21/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_753ba7a6-cef5-4665-81e9-306e11c618c5-2018-02-21T110000.000Z","Intellectual Disability and Autism","Has Insufficient Evidence for Actionability Based on Early Rule-out (12/17/2018) | Assertion Pending (04/17/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1001 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1001"," | "
"IDS","HGNC:5389","https://search.clinicalgenome.org/kb/genes/HGNC:5389","mucopolysaccharidosis type 2, attenuated form","MONDO:0016316","https://search.clinicalgenome.org/kb/conditions/MONDO:0016316","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/10/2020)","0 - No Evidence for Triplosensitivity (11/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5389","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (12/17/2018) | Assertion Pending (04/17/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1001 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1001"," | "
"IDS","HGNC:5389","https://search.clinicalgenome.org/kb/genes/HGNC:5389","mucopolysaccharidosis type 2, severe form","MONDO:0016315","https://search.clinicalgenome.org/kb/conditions/MONDO:0016315","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/10/2020)","0 - No Evidence for Triplosensitivity (11/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5389","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (12/17/2018) | Assertion Pending (04/17/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1001 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1001"," | "
"IDUA","HGNC:5391","https://search.clinicalgenome.org/kb/genes/HGNC:5391","mucopolysaccharidosis type 1","MONDO:0001586","https://search.clinicalgenome.org/kb/conditions/MONDO:0001586","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5391","Dosage Working Group","definitive evidence (05/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_042f8964-a8e1-4880-b873-73460088e8bf-2020-05-27T160000.000Z","General Gene Curation","Moderate Actionability (08/08/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC006",""
"IDUA","HGNC:5391","https://search.clinicalgenome.org/kb/genes/HGNC:5391","Hurler syndrome","MONDO:0011758","https://search.clinicalgenome.org/kb/conditions/MONDO:0011758","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5391","Dosage Working Group","","","","Moderate Actionability (08/08/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC006",""
"IDUA","HGNC:5391","https://search.clinicalgenome.org/kb/genes/HGNC:5391","Hurler-Scheie syndrome","MONDO:0011759","https://search.clinicalgenome.org/kb/conditions/MONDO:0011759","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5391","Dosage Working Group","","","","Moderate Actionability (08/08/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC006",""
"IDUA","HGNC:5391","https://search.clinicalgenome.org/kb/genes/HGNC:5391","Scheie syndrome","MONDO:0011760","https://search.clinicalgenome.org/kb/conditions/MONDO:0011760","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5391","Dosage Working Group","","","","Moderate Actionability (08/08/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC006",""
"IFIH1","HGNC:18873","https://search.clinicalgenome.org/kb/genes/HGNC:18873","IFIH1-related type 1 interferonopathy","MONDO:0700262","https://search.clinicalgenome.org/kb/conditions/MONDO:0700262","Autosomal dominant inheritance","","","","","definitive evidence (08/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34072c3f-58e6-49f8-9515-7f7dfc74ed2e-2024-08-23T160000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"IFNAR1","HGNC:5432","https://search.clinicalgenome.org/kb/genes/HGNC:5432","immunodeficiency 106, susceptibility to viral infections","MONDO:0030970","https://search.clinicalgenome.org/kb/conditions/MONDO:0030970","Autosomal recessive inheritance","","","","","definitive evidence (05/15/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04c73236-ed2c-4794-a157-4560d7cc3367-2025-05-15T160000.000Z","SCID-CID","","",""
"IFT122","HGNC:13556","https://search.clinicalgenome.org/kb/genes/HGNC:13556","cranioectodermal dysplasia 1","MONDO:0021093","https://search.clinicalgenome.org/kb/conditions/MONDO:0021093","Autosomal recessive inheritance","","","","","definitive evidence (10/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e4b420a-5df1-4c3c-aca8-a5359de25a5d-2021-10-21T040941.926Z","Syndromic Disorders","","",""
"IFT140","HGNC:29077","https://search.clinicalgenome.org/kb/genes/HGNC:29077","autosomal dominant polycystic kidney disease","MONDO:0004691","https://search.clinicalgenome.org/kb/conditions/MONDO:0004691","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29077","Dosage Working Group","definitive evidence (04/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40ced6e2-4d01-46b5-acd3-3964013add3b-2024-04-09T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"IFT140","HGNC:29077","https://search.clinicalgenome.org/kb/genes/HGNC:29077","IFT140-related recessive ciliopathy","MONDO:0100509","https://search.clinicalgenome.org/kb/conditions/MONDO:0100509","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29077","Dosage Working Group","definitive evidence (07/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4bc5837-07d2-46e5-836e-500a978bbf25-2022-07-07T160000.000Z","Retina","","",""
"IFT140","HGNC:29077","https://search.clinicalgenome.org/kb/genes/HGNC:29077","short-rib thoracic dysplasia 9 with or without polydactyly","MONDO:0009964","https://search.clinicalgenome.org/kb/conditions/MONDO:0009964","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29077","Dosage Working Group","","","","","",""
"IFT172","HGNC:30391","https://search.clinicalgenome.org/kb/genes/HGNC:30391","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","definitive evidence (04/23/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79f307e3-9ade-42a3-8ab3-ec098c0afea2-2025-04-23T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"IFT27","HGNC:18626","https://search.clinicalgenome.org/kb/genes/HGNC:18626","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18626","Dosage Working Group","definitive evidence (02/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b081d9f6-bf18-4b13-bae4-8a7ed697a350-2025-02-10T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"IFT27","HGNC:18626","https://search.clinicalgenome.org/kb/genes/HGNC:18626","Bardet-Biedl syndrome 19","MONDO:0014447","https://search.clinicalgenome.org/kb/conditions/MONDO:0014447","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18626","Dosage Working Group","","","","","",""
"IFT43","HGNC:29669","https://search.clinicalgenome.org/kb/genes/HGNC:29669","cranioectodermal dysplasia 3","MONDO:0013573","https://search.clinicalgenome.org/kb/conditions/MONDO:0013573","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29669","Dosage Working Group","","","","","",""
"IFT52","HGNC:15901","https://search.clinicalgenome.org/kb/genes/HGNC:15901","short-rib thoracic dysplasia 16 with or without polydactyly","MONDO:0014915","https://search.clinicalgenome.org/kb/conditions/MONDO:0014915","Autosomal recessive inheritance","","","","","moderate evidence (03/05/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ecff66ae-6f64-491b-8c7f-0969faea3341-2025-03-05T170000.000Z","Skeletal Disorders","","",""
"IFT74","HGNC:21424","https://search.clinicalgenome.org/kb/genes/HGNC:21424","primary ciliary dyskinesia","MONDO:0016575","https://search.clinicalgenome.org/kb/conditions/MONDO:0016575","Autosomal recessive inheritance","","","","","limited evidence (02/19/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9986c326-593a-4e0e-acf6-3cfdd71d5dfd-2025-02-19T180000.000Z","Motile Ciliopathy GCEP","","",""
"IFT80","HGNC:29262","https://search.clinicalgenome.org/kb/genes/HGNC:29262","asphyxiating thoracic dystrophy 2","MONDO:0012644","https://search.clinicalgenome.org/kb/conditions/MONDO:0012644","Autosomal recessive inheritance","","","","","definitive evidence (08/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19aad708-aeaf-4601-976b-6bc2809e583e-2024-08-05T160000.000Z","Skeletal Disorders","","",""
"IFT81","HGNC:14313","https://search.clinicalgenome.org/kb/genes/HGNC:14313","short-rib thoracic dysplasia 19 with or without polydactyly","MONDO:0033485","https://search.clinicalgenome.org/kb/conditions/MONDO:0033485","Autosomal recessive inheritance","","","","","moderate evidence (03/05/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb2fbc39-acf0-4c60-904a-d712171f601d-2025-03-05T170000.000Z","Skeletal Disorders","","",""
"IGBP1","HGNC:5461","https://search.clinicalgenome.org/kb/genes/HGNC:5461","corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome","MONDO:0010333","https://search.clinicalgenome.org/kb/conditions/MONDO:0010333","X-linked inheritance","","","","","disputing (02/02/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbeb1651-add0-4a44-87ad-a56c7864f076-2021-02-02T170000.000Z","Intellectual Disability and Autism","","",""
"IGF1R","HGNC:5465","https://search.clinicalgenome.org/kb/genes/HGNC:5465","growth delay due to insulin-like growth factor I resistance","MONDO:0010038","https://search.clinicalgenome.org/kb/conditions/MONDO:0010038","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/08/2022)","0 - No Evidence for Triplosensitivity (11/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5465","Dosage Working Group","","","","","",""
"IGF2","HGNC:5466","https://search.clinicalgenome.org/kb/genes/HGNC:5466","Silver-Russell syndrome 3","MONDO:0014663","https://search.clinicalgenome.org/kb/conditions/MONDO:0014663","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/22/2012)","0 - No Evidence for Triplosensitivity (03/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5466","Dosage Working Group","definitive evidence (10/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39e89185-94a4-4f94-ae80-63df06bece69-2023-10-04T160000.000Z","Syndromic Disorders","","",""
"IGHM","HGNC:5541","https://search.clinicalgenome.org/kb/genes/HGNC:5541","autosomal recessive agammaglobulinemia 1","MONDO:0020729","https://search.clinicalgenome.org/kb/conditions/MONDO:0020729","Autosomal recessive inheritance","","","","","definitive evidence (06/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51719b80-54fb-4a55-a63c-7d7a943da1e3-2021-06-15T120659.636Z","Antibody Deficiencies GCEP","","",""
"IGHMBP2","HGNC:5542","https://search.clinicalgenome.org/kb/genes/HGNC:5542","hereditary peripheral neuropathy","MONDO:0020127","https://search.clinicalgenome.org/kb/conditions/MONDO:0020127","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5542","Dosage Working Group","definitive evidence (09/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2717b35a-87a4-4f24-a762-53388db1bcb5-2023-09-06T160000.000Z","Charcot-Marie-Tooth","","",""
"IGHMBP2","HGNC:5542","https://search.clinicalgenome.org/kb/genes/HGNC:5542","autosomal recessive distal spinal muscular atrophy 1","MONDO:0011436","https://search.clinicalgenome.org/kb/conditions/MONDO:0011436","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5542","Dosage Working Group","","","","","",""
"IGKC","HGNC:5716","https://search.clinicalgenome.org/kb/genes/HGNC:5716","recurrent infections associated with rare immunoglobulin isotypes deficiency","MONDO:0013576","https://search.clinicalgenome.org/kb/conditions/MONDO:0013576","Autosomal recessive inheritance","","","","","limited evidence (05/18/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_017e48b4-45d1-4bba-b51c-0f372dbe3a6d-2021-05-18T160657.607Z","Antibody Deficiencies GCEP","","",""
"IGLL1","HGNC:5870","https://search.clinicalgenome.org/kb/genes/HGNC:5870","agammaglobulinemia 2, autosomal recessive","MONDO:0013287","https://search.clinicalgenome.org/kb/conditions/MONDO:0013287","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5870","Dosage Working Group","moderate evidence (12/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b483cc35-0599-4313-b71a-835cb1096ca5-2021-12-21T133220.444Z","Antibody Deficiencies GCEP","","",""
"IKBKB","HGNC:5960","https://search.clinicalgenome.org/kb/genes/HGNC:5960","severe combined immunodeficiency due to IKK2 deficiency","MONDO:0014267","https://search.clinicalgenome.org/kb/conditions/MONDO:0014267","Autosomal recessive inheritance","","","","","definitive evidence (05/25/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93641cdc-81a2-478d-be13-43078592c09f-2023-05-25T170000.000Z","SCID-CID","","",""
"IKBKB","HGNC:5960","https://search.clinicalgenome.org/kb/genes/HGNC:5960","immunodeficiency 15a","MONDO:0032599","https://search.clinicalgenome.org/kb/conditions/MONDO:0032599","Autosomal dominant inheritance","","","","","moderate evidence (10/24/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4f3541ed-a9c7-4fb5-954a-2811672a2cc4-2025-10-24T170000.000Z","SCID-CID","","",""
"IKBKG","HGNC:5961","https://search.clinicalgenome.org/kb/genes/HGNC:5961","incontinentia pigmenti","MONDO:0010631","https://search.clinicalgenome.org/kb/conditions/MONDO:0010631","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/10/2020)","0 - No Evidence for Triplosensitivity (11/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5961","Dosage Working Group","definitive evidence (06/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_092ed3e1-8a02-4c71-8134-24c4dc8d3a69-2022-06-23T160000.000Z","Syndromic Disorders","","",""
"IKBKG","HGNC:5961","https://search.clinicalgenome.org/kb/genes/HGNC:5961","IKBKG-related immunodeficiency with or without ectodermal dysplasia","MONDO:0100162","https://search.clinicalgenome.org/kb/conditions/MONDO:0100162","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/10/2020)","0 - No Evidence for Triplosensitivity (11/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5961","Dosage Working Group","definitive evidence (09/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c9ee97a-ab3d-4747-b3fe-523578dd90e9-2022-09-15T160000.000Z","SCID-CID","","",""
"IKZF1","HGNC:13176","https://search.clinicalgenome.org/kb/genes/HGNC:13176","autoimmune disease","MONDO:0007179","https://search.clinicalgenome.org/kb/conditions/MONDO:0007179","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/09/2025)","0 - No Evidence for Triplosensitivity (10/09/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13176","Dosage Working Group","moderate evidence (08/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a839a0c3-f5c6-4286-9d04-cd9347fefb00-2022-08-16T170000.000Z","Antibody Deficiencies GCEP","","",""
"IKZF1","HGNC:13176","https://search.clinicalgenome.org/kb/genes/HGNC:13176","pancytopenia due to IKZF1 mutations","MONDO:0014810","https://search.clinicalgenome.org/kb/conditions/MONDO:0014810","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/09/2025)","0 - No Evidence for Triplosensitivity (10/09/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13176","Dosage Working Group","definitive evidence (09/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be4b4555-477b-477b-bff9-7fcc8883806a-2022-09-13T170000.000Z","Antibody Deficiencies GCEP","","",""
"IKZF2","HGNC:13177","https://search.clinicalgenome.org/kb/genes/HGNC:13177","HELIOS deficiency","MONDO:0800139","https://search.clinicalgenome.org/kb/conditions/MONDO:0800139","Semidominant inheritance","","","","","moderate evidence (03/11/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c007dec-2ef6-49a6-ba07-5f495c7794ae-2025-03-11T180000.000Z","Antibody Deficiencies GCEP","","",""
"IKZF3","HGNC:13178","https://search.clinicalgenome.org/kb/genes/HGNC:13178","immunodeficiency 84","MONDO:0030333","https://search.clinicalgenome.org/kb/conditions/MONDO:0030333","Autosomal dominant inheritance","","","","","moderate evidence (03/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9112f2c-325e-4363-8a37-e7a8862bf55b-2023-03-21T170000.000Z","Antibody Deficiencies GCEP","","",""
"IKZF5","HGNC:14283","https://search.clinicalgenome.org/kb/genes/HGNC:14283","thrombocytopenia 7","MONDO:0030867","https://search.clinicalgenome.org/kb/conditions/MONDO:0030867","Autosomal dominant inheritance","","","","","limited evidence (09/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3d7d24b-1fb8-4951-9508-b27035a000a0-2023-09-06T160000.000Z","Hemostasis Thrombosis","","",""
"IL10","HGNC:5962","https://search.clinicalgenome.org/kb/genes/HGNC:5962","IL10-related early-onset inflammatory bowel disease","MONDO:0016542","https://search.clinicalgenome.org/kb/conditions/MONDO:0016542","Autosomal recessive inheritance","","","","","moderate evidence (02/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4b07cbe7-442e-421f-8fc9-7344027dd7dc-2025-02-18T170000.000Z","Primary Immune Regulatory Disorders","","",""
"IL10RA","HGNC:5964","https://search.clinicalgenome.org/kb/genes/HGNC:5964","inflammatory bowel disease 28","MONDO:0013153","https://search.clinicalgenome.org/kb/conditions/MONDO:0013153","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5964","Dosage Working Group","definitive evidence (12/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec3a4174-5d67-46d8-9760-8bcbe274abce-2024-12-10T180000.000Z","Primary Immune Regulatory Disorders","","",""
"IL10RB","HGNC:5965","https://search.clinicalgenome.org/kb/genes/HGNC:5965","inflammatory bowel disease 25","MONDO:0012941","https://search.clinicalgenome.org/kb/conditions/MONDO:0012941","Autosomal recessive inheritance","","","","","definitive evidence (12/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d5330f7a-01cc-4a03-bcde-2846fb5700d5-2024-12-10T180000.000Z","Primary Immune Regulatory Disorders","","",""
"IL11RA","HGNC:5967","https://search.clinicalgenome.org/kb/genes/HGNC:5967","craniosynostosis and dental anomalies","MONDO:0013615","https://search.clinicalgenome.org/kb/conditions/MONDO:0013615","Autosomal recessive inheritance","","","","","definitive evidence (04/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_903705e8-451e-4ed9-b3fc-d50df68c3fa2-2023-04-20T040000.000Z","Craniofacial Malformations","","",""
"IL17RA","HGNC:5985","https://search.clinicalgenome.org/kb/genes/HGNC:5985","immunodeficiency 51","MONDO:0013500","https://search.clinicalgenome.org/kb/conditions/MONDO:0013500","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5985","Dosage Working Group","","","","","",""
"IL1RAPL1","HGNC:5996","https://search.clinicalgenome.org/kb/genes/HGNC:5996","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/14/2023)","0 - No Evidence for Triplosensitivity (11/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5996","Dosage Working Group","definitive evidence (12/30/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b5db6b4-94fa-46d1-88a7-bbf382f3a1c6-2017-12-30T110000.000Z","Intellectual Disability and Autism","","",""
"IL1RAPL1","HGNC:5996","https://search.clinicalgenome.org/kb/genes/HGNC:5996","intellectual disability, X-linked 21","MONDO:0010256","https://search.clinicalgenome.org/kb/conditions/MONDO:0010256","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/14/2023)","0 - No Evidence for Triplosensitivity (11/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5996","Dosage Working Group","","","","","",""
"IL21","HGNC:6005","https://search.clinicalgenome.org/kb/genes/HGNC:6005","common variable immunodeficiency","MONDO:0015517","https://search.clinicalgenome.org/kb/conditions/MONDO:0015517","Autosomal recessive inheritance","","","","","limited evidence (12/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82664dca-783a-4ed9-abe5-c77b082a0684-2022-12-30T120000.000Z","Antibody Deficiencies GCEP","","",""
"IL21R","HGNC:6006","https://search.clinicalgenome.org/kb/genes/HGNC:6006","immunodeficiency disease","MONDO:0021094","https://search.clinicalgenome.org/kb/conditions/MONDO:0021094","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6006","Dosage Working Group","definitive evidence (12/31/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4dbeac16-997c-43c0-9fb6-eaa98d0816f9-2022-12-31T120000.000Z","Antibody Deficiencies GCEP","","",""
"IL21R","HGNC:6006","https://search.clinicalgenome.org/kb/genes/HGNC:6006","cryptosporidiosis-chronic cholangitis-liver disease syndrome","MONDO:0014082","https://search.clinicalgenome.org/kb/conditions/MONDO:0014082","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6006","Dosage Working Group","","","","","",""
"IL2RA","HGNC:6008","https://search.clinicalgenome.org/kb/genes/HGNC:6008","immunodeficiency due to CD25 deficiency","MONDO:0011664","https://search.clinicalgenome.org/kb/conditions/MONDO:0011664","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6008","Dosage Working Group","definitive evidence (02/05/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d977a16-0957-458b-86be-2245d3953453-2025-02-05T060000.000Z","Primary Immune Regulatory Disorders","","",""
"IL2RB","HGNC:6009","https://search.clinicalgenome.org/kb/genes/HGNC:6009","immunodeficiency 63 with lymphoproliferation and autoimmunity","MONDO:0032782","https://search.clinicalgenome.org/kb/conditions/MONDO:0032782","Autosomal recessive inheritance","","","","","moderate evidence (12/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b6a2d8f-4ca0-42bb-9c1c-fbe59aac7b1f-2023-12-12T170000.000Z","Primary Immune Regulatory Disorders","","",""
"IL2RG","HGNC:6010","https://search.clinicalgenome.org/kb/genes/HGNC:6010","T-B+ severe combined immunodeficiency due to gamma chain deficiency","MONDO:0010315","https://search.clinicalgenome.org/kb/conditions/MONDO:0010315","X-linked inheritance","","","","","definitive evidence (04/22/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4a8be06-e082-47c7-b005-956b51424fd2-2021-04-22T191103.318Z","SCID-CID","","",""
"IL6R","HGNC:6019","https://search.clinicalgenome.org/kb/genes/HGNC:6019","hyper-IgE recurrent infection syndrome 5, autosomal recessive","MONDO:0030069","https://search.clinicalgenome.org/kb/conditions/MONDO:0030069","Autosomal recessive inheritance","","","","","limited evidence (09/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3eaf66b-3d62-4789-8de9-151a56ff5632-2023-09-21T170000.000Z","SCID-CID","","",""
"IL7R","HGNC:6024","https://search.clinicalgenome.org/kb/genes/HGNC:6024","immunodeficiency 104","MONDO:0012163","https://search.clinicalgenome.org/kb/conditions/MONDO:0012163","Autosomal recessive inheritance","","","","","definitive evidence (06/22/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bab0c36-592e-439c-bedf-4ec095fd47e8-2021-06-22T164843.040Z","SCID-CID","","",""
"ILDR1","HGNC:28741","https://search.clinicalgenome.org/kb/genes/HGNC:28741","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","definitive evidence (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5e1a608-edc3-405c-805f-a7ed162c2bbc-2017-11-21T170000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"ILDR1","HGNC:28741","https://search.clinicalgenome.org/kb/genes/HGNC:28741","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"ILDR1","HGNC:28741","https://search.clinicalgenome.org/kb/genes/HGNC:28741","autosomal recessive nonsyndromic hearing loss 42","MONDO:0012326","https://search.clinicalgenome.org/kb/conditions/MONDO:0012326","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"ILDR1","HGNC:28741","https://search.clinicalgenome.org/kb/genes/HGNC:28741","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"ILK","HGNC:6040","https://search.clinicalgenome.org/kb/genes/HGNC:6040","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","no known disease relationship (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_540f2706-1c1a-452e-b5b9-334728b11e40-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"IMMP2L","HGNC:14598","https://search.clinicalgenome.org/kb/genes/HGNC:14598","Tourette syndrome","MONDO:0007661","https://search.clinicalgenome.org/kb/conditions/MONDO:0007661","N/A","40 - Dosage Sensitivity Unlikely for Haploinsufficiency (04/12/2022)","0 - No Evidence for Triplosensitivity (04/12/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14598","Dosage Working Group","","","","","",""
"IMPDH1","HGNC:6052","https://search.clinicalgenome.org/kb/genes/HGNC:6052","IMPDH1-related retinopathy","MONDO:1040051","https://search.clinicalgenome.org/kb/conditions/MONDO:1040051","Autosomal dominant inheritance","","","","","definitive evidence (02/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04d85991-25a4-4da6-8090-65b8cfb771cd-2024-02-01T170000.000Z","Retina","","",""
"IMPG1","HGNC:6055","https://search.clinicalgenome.org/kb/genes/HGNC:6055","IMPG1-related dominant retinopathy","MONDO:1040036","https://search.clinicalgenome.org/kb/conditions/MONDO:1040036","Autosomal dominant inheritance","","","","","definitive evidence (09/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6816122-6b22-4ac8-bc20-f1cc68b3b7ed-2023-09-07T160000.000Z","Retina","","",""
"IMPG1","HGNC:6055","https://search.clinicalgenome.org/kb/genes/HGNC:6055","IMPG1-related recessive retinopathy","MONDO:1040037","https://search.clinicalgenome.org/kb/conditions/MONDO:1040037","Autosomal recessive inheritance","","","","","definitive evidence (09/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d638e88c-feaa-4d84-a4e7-9b83481bfb0c-2023-09-07T160000.000Z","Retina","","",""
"IMPG2","HGNC:18362","https://search.clinicalgenome.org/kb/genes/HGNC:18362","IMPG2-related recessive retinopathy","MONDO:0700241","https://search.clinicalgenome.org/kb/conditions/MONDO:0700241","Autosomal recessive inheritance","","","","","definitive evidence (08/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66bf5526-6f74-473b-b2f9-3e3270164bc8-2023-08-03T160000.000Z","Retina","","",""
"INF2","HGNC:23791","https://search.clinicalgenome.org/kb/genes/HGNC:23791","Charcot-Marie-Tooth disease dominant intermediate E","MONDO:0013758","https://search.clinicalgenome.org/kb/conditions/MONDO:0013758","Autosomal dominant inheritance","","","","","definitive evidence (03/22/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5215f2cf-99c9-405a-b221-18f412abd1f0-2021-03-22T202012.410Z","Charcot-Marie-Tooth","","",""
"INO80","HGNC:26956","https://search.clinicalgenome.org/kb/genes/HGNC:26956","immunodeficiency, common variable, 1","MONDO:0011864","https://search.clinicalgenome.org/kb/conditions/MONDO:0011864","Autosomal recessive inheritance","","","","","disputing (01/22/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_16d9f828-f6fa-4e35-bc23-c9f1b1138b9a-2021-01-22T014826.188Z","Antibody Deficiencies GCEP","","",""
"INPP5E","HGNC:21474","https://search.clinicalgenome.org/kb/genes/HGNC:21474","Joubert syndrome 1","MONDO:0008944","https://search.clinicalgenome.org/kb/conditions/MONDO:0008944","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21474","Dosage Working Group","definitive evidence (09/08/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5fb970a-8747-4c3e-8465-d8cb007c1428-2021-09-08T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"INPP5E","HGNC:21474","https://search.clinicalgenome.org/kb/genes/HGNC:21474","MORM syndrome","MONDO:0012423","https://search.clinicalgenome.org/kb/conditions/MONDO:0012423","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21474","Dosage Working Group","moderate evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a50bbd87-4308-4272-83fc-21274d283e63-2023-05-30T160000.000Z","Syndromic Disorders","","",""
"INS","HGNC:6081","https://search.clinicalgenome.org/kb/genes/HGNC:6081","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Autosomal dominant inheritance | Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (03/22/2012)","0 - No Evidence for Triplosensitivity (03/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6081","Dosage Working Group","definitive evidence (05/13/2020) | definitive evidence (05/13/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5224322-637e-40a8-89eb-d44e01536f25-2020-05-13T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c21ba4d-785f-486f-84f8-511b9c89c137-2020-05-13T160000.000Z","Monogenic Diabetes | Monogenic Diabetes","","",""
"INTU","HGNC:29239","https://search.clinicalgenome.org/kb/genes/HGNC:29239","INTU-related skeletal ciliopathy","MONDO:1060154","https://search.clinicalgenome.org/kb/conditions/MONDO:1060154","Autosomal recessive inheritance","","","","","definitive evidence (06/02/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a693c4d-acca-4a00-9866-3314eaf94eac-2025-06-02T160000.000Z","Skeletal Disorders","","",""
"INVS","HGNC:17870","https://search.clinicalgenome.org/kb/genes/HGNC:17870","nephronophthisis 2","MONDO:0011190","https://search.clinicalgenome.org/kb/conditions/MONDO:0011190","Autosomal recessive inheritance","","","","","definitive evidence (02/24/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bdaee2a-144d-4bdf-a5c7-78001b991174-2021-02-24T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"IQCB1","HGNC:28949","https://search.clinicalgenome.org/kb/genes/HGNC:28949","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","definitive evidence (10/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6165d113-390f-43e5-84fe-05fd7b32b10a-2024-10-03T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"IQSEC2","HGNC:29059","https://search.clinicalgenome.org/kb/genes/HGNC:29059","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/26/2025)","0 - No Evidence for Triplosensitivity (03/26/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29059","Dosage Working Group","definitive evidence (06/05/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0916cda1-5213-4f88-9835-34c3931526a2-2019-06-05T160000.000Z","Intellectual Disability and Autism","","",""
"IRAK4","HGNC:17967","https://search.clinicalgenome.org/kb/genes/HGNC:17967","immunodeficiency 67","MONDO:0011888","https://search.clinicalgenome.org/kb/conditions/MONDO:0011888","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17967","Dosage Working Group","","","","","",""
"IRF2BP2","HGNC:21729","https://search.clinicalgenome.org/kb/genes/HGNC:21729","immunodeficiency, common variable, 14","MONDO:0054691","https://search.clinicalgenome.org/kb/conditions/MONDO:0054691","Autosomal dominant inheritance","","","","","limited evidence (03/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_025487e5-9447-4c7b-88ad-f650103e09cf-2021-03-16T125403.252Z","Antibody Deficiencies GCEP","","",""
"IRF2BPL","HGNC:14282","https://search.clinicalgenome.org/kb/genes/HGNC:14282","neurodegenerative disease","MONDO:0005559","https://search.clinicalgenome.org/kb/conditions/MONDO:0005559","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (06/10/2025)","0 - No Evidence for Triplosensitivity (06/10/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14282","Dosage Working Group","definitive evidence (09/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_88aff22f-6b5c-4f85-987a-972263639795-2023-09-05T070000.000Z","Epilepsy","","",""
"IRF4","HGNC:6119","https://search.clinicalgenome.org/kb/genes/HGNC:6119","combined immunodeficiency","MONDO:0015131","https://search.clinicalgenome.org/kb/conditions/MONDO:0015131","Autosomal dominant inheritance","","","","","definitive evidence (12/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53e517dc-345a-4efe-bb9b-5d0824b02a2d-2024-12-10T180000.000Z","Antibody Deficiencies GCEP","","",""
"IRF6","HGNC:6121","https://search.clinicalgenome.org/kb/genes/HGNC:6121","van der Woude syndrome 1","MONDO:0007333","https://search.clinicalgenome.org/kb/conditions/MONDO:0007333","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6121","Dosage Working Group","","","","","",""
"IRX4","HGNC:6129","https://search.clinicalgenome.org/kb/genes/HGNC:6129","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (12/11/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b47ed2a6-3cc3-4ec4-9d92-36b8db66cc10-2023-12-11T050000.000Z","Congenital Heart Disease","","",""
"ISCA2","HGNC:19857","https://search.clinicalgenome.org/kb/genes/HGNC:19857","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (08/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac2a091c-b7da-4268-b2f4-0fbf9231a5fb-2023-08-21T160000.000Z","Mitochondrial Diseases","","",""
"ISCU","HGNC:29882","https://search.clinicalgenome.org/kb/genes/HGNC:29882","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (10/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_636c0bfd-1dfd-4eb8-af33-3cbb652a2634-2023-10-19T040000.000Z","Mitochondrial Diseases","","",""
"ISL1","HGNC:6132","https://search.clinicalgenome.org/kb/genes/HGNC:6132","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","definitive evidence (08/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad4a2c95-f9fb-45a3-84e4-2e1d0d71c779-2024-08-06T160000.000Z","Congenital Heart Disease","","",""
"ITCH","HGNC:13890","https://search.clinicalgenome.org/kb/genes/HGNC:13890","syndromic multisystem autoimmune disease due to ITCH deficiency","MONDO:0013245","https://search.clinicalgenome.org/kb/conditions/MONDO:0013245","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13890","Dosage Working Group","","","","","",""
"ITGA2B","HGNC:6138","https://search.clinicalgenome.org/kb/genes/HGNC:6138","Glanzmann thrombasthenia","MONDO:0100326","https://search.clinicalgenome.org/kb/conditions/MONDO:0100326","Autosomal recessive inheritance","","","","","definitive evidence (09/04/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9fa894f5-f9e4-4b6d-bdde-eeb7ad9507e2-2019-09-04T040000.000Z","Hemostasis Thrombosis","Strong Actionability (03/12/2020) | Strong Actionability (03/12/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1009 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1009"," | "
"ITGA2B","HGNC:6138","https://search.clinicalgenome.org/kb/genes/HGNC:6138","platelet-type bleeding disorder 16","MONDO:0008552","https://search.clinicalgenome.org/kb/conditions/MONDO:0008552","Autosomal dominant inheritance","","","","","definitive evidence (11/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_380c4fb9-aa51-4d34-9349-7938667612b7-2023-11-06T170000.000Z","Hemostasis Thrombosis","","",""
"ITGA2B","HGNC:6138","https://search.clinicalgenome.org/kb/genes/HGNC:6138","Glanzmann thrombasthenia 1","MONDO:0031332","https://search.clinicalgenome.org/kb/conditions/MONDO:0031332","N/A","","","","","","","","Strong Actionability (03/12/2020) | Strong Actionability (03/12/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1009 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1009"," | "
"ITGA3","HGNC:6139","https://search.clinicalgenome.org/kb/genes/HGNC:6139","epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome","MONDO:0013881","https://search.clinicalgenome.org/kb/conditions/MONDO:0013881","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6139","Dosage Working Group","definitive evidence (05/09/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3dc277da-52f8-4f64-91a8-cd6c4f68db3a-2022-05-09T023000.000Z","Glomerulopathy","","",""
"ITGB2","HGNC:6155","https://search.clinicalgenome.org/kb/genes/HGNC:6155","leukocyte adhesion deficiency 1","MONDO:0007293","https://search.clinicalgenome.org/kb/conditions/MONDO:0007293","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6155","Dosage Working Group","","","","","",""
"ITGB3","HGNC:6156","https://search.clinicalgenome.org/kb/genes/HGNC:6156","Glanzmann thrombasthenia","MONDO:0100326","https://search.clinicalgenome.org/kb/conditions/MONDO:0100326","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (08/27/2012)","0 - No Evidence for Triplosensitivity (08/27/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6156","Dosage Working Group","definitive evidence (08/28/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e16b727e-c4c6-4d1d-8e66-8acab2b605fa-2019-08-28T040000.000Z","Hemostasis Thrombosis","Strong Actionability (03/12/2020) | Strong Actionability (03/12/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1009 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1009"," | "
"ITGB3","HGNC:6156","https://search.clinicalgenome.org/kb/genes/HGNC:6156","platelet-type bleeding disorder 16","MONDO:0008552","https://search.clinicalgenome.org/kb/conditions/MONDO:0008552","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (08/27/2012)","0 - No Evidence for Triplosensitivity (08/27/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6156","Dosage Working Group","definitive evidence (06/04/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eda416fa-6e15-40df-bfd0-46a111e99ba0-2025-06-04T040000.000Z","Hemostasis Thrombosis","","",""
"ITGB3","HGNC:6156","https://search.clinicalgenome.org/kb/genes/HGNC:6156","Glanzmann thrombasthenia 2","MONDO:0031009","https://search.clinicalgenome.org/kb/conditions/MONDO:0031009","N/A","0 - No Evidence for Haploinsufficiency (08/27/2012)","0 - No Evidence for Triplosensitivity (08/27/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6156","Dosage Working Group","","","","Strong Actionability (03/12/2020) | Strong Actionability (03/12/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1009 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1009"," | "
"ITK","HGNC:6171","https://search.clinicalgenome.org/kb/genes/HGNC:6171","lymphoproliferative syndrome 1","MONDO:0013081","https://search.clinicalgenome.org/kb/conditions/MONDO:0013081","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6171","Dosage Working Group","definitive evidence (11/21/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_63552229-5e8c-4a94-b428-ec9a56a0aa5f-2019-11-21T193148.945Z","Hereditary Cancer","","",""
"ITPA","HGNC:6176","https://search.clinicalgenome.org/kb/genes/HGNC:6176","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","","","","","definitive evidence (02/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afbea76e-09de-48c6-b7b3-0c89109f4253-2024-02-06T200000.000Z","Epilepsy","","",""
"ITPKB","HGNC:6179","https://search.clinicalgenome.org/kb/genes/HGNC:6179","ITPKB deficiency","MONDO:0800140","https://search.clinicalgenome.org/kb/conditions/MONDO:0800140","Autosomal recessive inheritance","","","","","limited evidence (11/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93d0dcb3-b6f6-4af4-951b-3307f4e36b67-2023-11-16T180000.000Z","SCID-CID","","",""
"ITPR1","HGNC:6180","https://search.clinicalgenome.org/kb/genes/HGNC:6180","aniridia-cerebellar ataxia-intellectual disability syndrome","MONDO:0008795","https://search.clinicalgenome.org/kb/conditions/MONDO:0008795","Autosomal dominant inheritance | Autosomal recessive inheritance","1 - Little Evidence for Haploinsufficiency (10/12/2023)","0 - No Evidence for Triplosensitivity (10/12/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6180","Dosage Working Group","definitive evidence (01/23/2025) | definitive evidence (01/23/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a848b265-8aa3-41ee-83cc-9287afe0f9d0-2025-01-23T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e43bc1b6-656e-4f8e-aeed-5c39fac10624-2025-01-23T170000.000Z","Intellectual Disability and Autism | Intellectual Disability and Autism","","",""
"ITPR1","HGNC:6180","https://search.clinicalgenome.org/kb/genes/HGNC:6180","spinocerebellar ataxia type 29","MONDO:0007298","https://search.clinicalgenome.org/kb/conditions/MONDO:0007298","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (10/12/2023)","0 - No Evidence for Triplosensitivity (10/12/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6180","Dosage Working Group","definitive evidence (01/22/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b938bea-6fcb-46e1-9435-99303d59740e-2025-01-22T230000.000Z","Intellectual Disability and Autism","","",""
"ITPR1","HGNC:6180","https://search.clinicalgenome.org/kb/genes/HGNC:6180","autosomal dominant cerebellar ataxia","MONDO:0020380","https://search.clinicalgenome.org/kb/conditions/MONDO:0020380","N/A","1 - Little Evidence for Haploinsufficiency (10/12/2023)","0 - No Evidence for Triplosensitivity (10/12/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6180","Dosage Working Group","","","","","",""
"ITSN1","HGNC:6183","https://search.clinicalgenome.org/kb/genes/HGNC:6183","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (10/08/2024)","0 - No Evidence for Triplosensitivity (10/08/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6183","Dosage Working Group","","","","","",""
"IVD","HGNC:6186","https://search.clinicalgenome.org/kb/genes/HGNC:6186","isovaleric acidemia","MONDO:0009475","https://search.clinicalgenome.org/kb/conditions/MONDO:0009475","Autosomal recessive inheritance","","","","","definitive evidence (05/10/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_05f5d468-2f46-44f3-ba67-c4e708d2954f-2019-05-10T160000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/20/2017) | Has Insufficient Evidence for Actionability Based on Early Rule-out (12/16/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1013 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1013"," | "
"IYD","HGNC:21071","https://search.clinicalgenome.org/kb/genes/HGNC:21071","thyroid dyshormonogenesis 4","MONDO:0010136","https://search.clinicalgenome.org/kb/conditions/MONDO:0010136","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21071","Dosage Working Group","","","","","",""
"JAG1","HGNC:6188","https://search.clinicalgenome.org/kb/genes/HGNC:6188","Alagille syndrome due to a JAG1 point mutation","MONDO:0016862","https://search.clinicalgenome.org/kb/conditions/MONDO:0016862","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/19/2020)","0 - No Evidence for Triplosensitivity (10/19/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6188","Dosage Working Group","definitive evidence (04/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c711c455-29cf-40dc-b064-d603337b834c-2025-04-14T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"JAG2","HGNC:6189","https://search.clinicalgenome.org/kb/genes/HGNC:6189","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","","","","","moderate evidence (08/27/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_16f43ce9-05b5-437d-a35e-b1c379c0ba7a-2024-08-27T160000.000Z","Muscular Dystrophies and Myopathies","","",""
"JAK1","HGNC:6190","https://search.clinicalgenome.org/kb/genes/HGNC:6190","autoinflammation, immune dysregulation, and eosinophilia","MONDO:0033558","https://search.clinicalgenome.org/kb/conditions/MONDO:0033558","Autosomal dominant inheritance","","","","","definitive evidence (03/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c408f8f6-2b49-49b8-bccc-a5dbd7df1dab-2025-03-18T160000.000Z","Primary Immune Regulatory Disorders","","",""
"JAK3","HGNC:6193","https://search.clinicalgenome.org/kb/genes/HGNC:6193","T-B+ severe combined immunodeficiency due to JAK3 deficiency","MONDO:0010938","https://search.clinicalgenome.org/kb/conditions/MONDO:0010938","Autosomal recessive inheritance","","","","","definitive evidence (12/18/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_669dcacf-8423-4507-a36c-feab049737b3-2020-12-18T200520.841Z","SCID-CID","","",""
"JAM3","HGNC:15532","https://search.clinicalgenome.org/kb/genes/HGNC:15532","porencephaly-microcephaly-bilateral congenital cataract syndrome","MONDO:0013394","https://search.clinicalgenome.org/kb/conditions/MONDO:0013394","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (06/11/2015)","0 - No Evidence for Triplosensitivity (06/11/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15532","Dosage Working Group","","","","","",""
"JARID2","HGNC:6196","https://search.clinicalgenome.org/kb/genes/HGNC:6196","developmental delay with variable intellectual disability and dysmorphic facies","MONDO:0859306","https://search.clinicalgenome.org/kb/conditions/MONDO:0859306","Autosomal dominant inheritance","2 - Emerging Evidence for Haploinsufficiency (06/11/2024)","0 - No Evidence for Triplosensitivity (06/11/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6196","Dosage Working Group","definitive evidence (02/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b08c9749-9fee-4354-86bc-72ab1a2bde14-2024-02-06T170000.000Z","Intellectual Disability and Autism","","",""
"JARID2","HGNC:6196","https://search.clinicalgenome.org/kb/genes/HGNC:6196","neurodevelopmental disorder","MONDO:0700092","https://search.clinicalgenome.org/kb/conditions/MONDO:0700092","N/A","2 - Emerging Evidence for Haploinsufficiency (06/11/2024)","0 - No Evidence for Triplosensitivity (06/11/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6196","Dosage Working Group","","","","","",""
"JPH2","HGNC:14202","https://search.clinicalgenome.org/kb/genes/HGNC:14202","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","moderate evidence (10/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_378a727d-0c5b-4563-9c96-ac18a2902742-2022-10-12T160000.000Z","Hereditary Cardiovascular Disease","","",""
"JPH2","HGNC:14202","https://search.clinicalgenome.org/kb/genes/HGNC:14202","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","limited evidence (01/24/2025) | strong evidence (01/24/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d310e47-1f84-4c61-b06a-b273a4b1b601-2025-01-24T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7aa138ae-114c-46b0-84e4-5bfc5a7db51b-2025-01-24T170000.000Z","Dilated Cardiomyopathy | Dilated Cardiomyopathy","","",""
"JUP","HGNC:6207","https://search.clinicalgenome.org/kb/genes/HGNC:6207","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","N/A","","","","","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"JUP","HGNC:6207","https://search.clinicalgenome.org/kb/genes/HGNC:6207","arrhythmogenic right ventricular dysplasia 12","MONDO:0012684","https://search.clinicalgenome.org/kb/conditions/MONDO:0012684","N/A","","","","","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"JUP","HGNC:6207","https://search.clinicalgenome.org/kb/genes/HGNC:6207","familial isolated arrhythmogenic right ventricular dysplasia","MONDO:0016342","https://search.clinicalgenome.org/kb/conditions/MONDO:0016342","N/A","","","","","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"KANSL1","HGNC:24565","https://search.clinicalgenome.org/kb/genes/HGNC:24565","Koolen-de Vries syndrome","MONDO:0012496","https://search.clinicalgenome.org/kb/conditions/MONDO:0012496","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/11/2013)","0 - No Evidence for Triplosensitivity (04/11/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24565","Dosage Working Group","definitive evidence (02/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e89a0e87-314a-49b1-bb50-6b26aeaa1037-2022-02-18T120936.714Z","Intellectual Disability and Autism","","",""
"KARS1","HGNC:6215","https://search.clinicalgenome.org/kb/genes/HGNC:6215","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6215","Dosage Working Group","limited evidence (02/27/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5239ac3-1506-4b0e-9055-632ba895ca0c-2018-02-27T170000.000Z","Hearing Loss","","",""
"KARS1","HGNC:6215","https://search.clinicalgenome.org/kb/genes/HGNC:6215","autosomal recessive nonsyndromic hearing loss 89","MONDO:0013489","https://search.clinicalgenome.org/kb/conditions/MONDO:0013489","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6215","Dosage Working Group","","","","","",""
"KAT6A","HGNC:13013","https://search.clinicalgenome.org/kb/genes/HGNC:13013","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/28/2018)","0 - No Evidence for Triplosensitivity (03/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13013","Dosage Working Group","definitive evidence (10/05/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_86ec74ba-6b12-42ea-bc06-58af4fd6b7a4-2021-10-05T160000.000Z","Intellectual Disability and Autism","","",""
"KAT6A","HGNC:13013","https://search.clinicalgenome.org/kb/genes/HGNC:13013","autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome","MONDO:0014558","https://search.clinicalgenome.org/kb/conditions/MONDO:0014558","N/A","3 - Sufficient Evidence for Haploinsufficiency (03/28/2018)","0 - No Evidence for Triplosensitivity (03/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13013","Dosage Working Group","","","","","",""
"KAT6B","HGNC:17582","https://search.clinicalgenome.org/kb/genes/HGNC:17582","RASopathy","MONDO:0021060","https://search.clinicalgenome.org/kb/conditions/MONDO:0021060","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/25/2018)","0 - No Evidence for Triplosensitivity (04/25/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17582","Dosage Working Group","disputing (02/04/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb3c40d8-3aea-45bf-949e-c3ba7d96a6b4-2019-02-04T170000.000Z","RASopathy","","",""
"KAT6B","HGNC:17582","https://search.clinicalgenome.org/kb/genes/HGNC:17582","KAT6B-related multiple congenital anomalies syndrome","MONDO:0036042","https://search.clinicalgenome.org/kb/conditions/MONDO:0036042","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/25/2018)","0 - No Evidence for Triplosensitivity (04/25/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17582","Dosage Working Group","definitive evidence (01/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cea46b8-c173-46f6-bd81-46b5411d0a0e-2023-01-04T070000.000Z","Intellectual Disability and Autism","","",""
"KAT6B","HGNC:17582","https://search.clinicalgenome.org/kb/genes/HGNC:17582","blepharophimosis - intellectual disability syndrome, SBBYS type","MONDO:0011365","https://search.clinicalgenome.org/kb/conditions/MONDO:0011365","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/25/2018)","0 - No Evidence for Triplosensitivity (04/25/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17582","Dosage Working Group","","","","","",""
"KATNAL2","HGNC:25387","https://search.clinicalgenome.org/kb/genes/HGNC:25387","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (11/28/2018)","0 - No Evidence for Triplosensitivity (11/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25387","Dosage Working Group","disputing (05/19/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eddbdd3e-2f6b-4b55-a951-988ee214b08b-2020-05-19T220000.000Z","Intellectual Disability and Autism","","",""
"KATNIP","HGNC:29068","https://search.clinicalgenome.org/kb/genes/HGNC:29068","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","definitive evidence (07/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ec67a40-fd4c-4eb8-b90d-e0b3fc4f0133-2023-07-10T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"KBTBD13","HGNC:37227","https://search.clinicalgenome.org/kb/genes/HGNC:37227","nemaline myopathy 6","MONDO:0012237","https://search.clinicalgenome.org/kb/conditions/MONDO:0012237","Autosomal dominant inheritance","","","","","definitive evidence (01/27/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff2f157e-741b-447d-a6c5-1d003e2e98e1-2025-01-27T170000.000Z","Congenital Myopathies","","",""
"KCNA1","HGNC:6218","https://search.clinicalgenome.org/kb/genes/HGNC:6218","episodic ataxia type 1","MONDO:0008047","https://search.clinicalgenome.org/kb/conditions/MONDO:0008047","Autosomal dominant inheritance","","","","","definitive evidence (03/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be2294a9-78d0-48f5-9b55-d6abb3d0a55f-2023-03-07T060000.000Z","Epilepsy","","",""
"KCNA2","HGNC:6220","https://search.clinicalgenome.org/kb/genes/HGNC:6220","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (05/28/2025)","0 - No Evidence for Triplosensitivity (05/28/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6220","Dosage Working Group","definitive evidence (05/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a825f85-585a-4086-8118-ce912d4c1469-2022-05-18T130146.911Z","Epilepsy","","",""
"KCNB1","HGNC:6231","https://search.clinicalgenome.org/kb/genes/HGNC:6231","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (04/16/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_986348ad-e8bb-4391-9478-7834a19415cb-2019-04-16T160000.000Z","Epilepsy","","",""
"KCNC1","HGNC:6233","https://search.clinicalgenome.org/kb/genes/HGNC:6233","progressive myoclonus epilepsy","MONDO:0020074","https://search.clinicalgenome.org/kb/conditions/MONDO:0020074","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (03/31/2025)","0 - No Evidence for Triplosensitivity (03/31/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6233","Dosage Working Group","definitive evidence (11/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35d2beba-40f6-472d-842c-41925f486ba9-2022-11-07T200000.000Z","Epilepsy","","",""
"KCNC1","HGNC:6233","https://search.clinicalgenome.org/kb/genes/HGNC:6233","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (03/31/2025)","0 - No Evidence for Triplosensitivity (03/31/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6233","Dosage Working Group","definitive evidence (11/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5146494e-71e7-4e06-b10f-cc126429e3fb-2022-11-07T200000.000Z","Epilepsy","","",""
"KCNC2","HGNC:6234","https://search.clinicalgenome.org/kb/genes/HGNC:6234","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","","","","","definitive evidence (12/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_560c09c7-b58c-4d81-a5e1-d4a76ade613f-2023-12-14T070000.000Z","Intellectual Disability and Autism","","",""
"KCNC3","HGNC:6235","https://search.clinicalgenome.org/kb/genes/HGNC:6235","spinocerebellar ataxia type 13","MONDO:0011529","https://search.clinicalgenome.org/kb/conditions/MONDO:0011529","Autosomal dominant inheritance","","","","","definitive evidence (11/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18613a4a-5124-499a-b224-1c4aae4b1c55-2024-11-07T050000.000Z","Cerebral Palsy","","",""
"KCND3","HGNC:6239","https://search.clinicalgenome.org/kb/genes/HGNC:6239","Brugada syndrome 1","MONDO:0011001","https://search.clinicalgenome.org/kb/conditions/MONDO:0011001","Autosomal dominant inheritance","","","","","disputing (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10151","Brugada Syndrome","","",""
"KCNE1","HGNC:6240","https://search.clinicalgenome.org/kb/genes/HGNC:6240","long QT syndrome 5","MONDO:0013372","https://search.clinicalgenome.org/kb/conditions/MONDO:0013372","Autosomal dominant inheritance","","","","","limited evidence (12/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_957550ae-d91c-49e7-be7c-ff5a13faa3ff-2020-12-15T002142.973Z","Long QT Syndrome","","",""
"KCNE2","HGNC:6242","https://search.clinicalgenome.org/kb/genes/HGNC:6242","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","","","","","disputing (12/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9912be79-b172-46ca-a67c-99698de5590b-2020-12-15T002341.412Z","Long QT Syndrome","","",""
"KCNE3","HGNC:6243","https://search.clinicalgenome.org/kb/genes/HGNC:6243","Brugada syndrome","MONDO:0015263","https://search.clinicalgenome.org/kb/conditions/MONDO:0015263","Autosomal dominant inheritance | Autosomal dominant inheritance","","","","","disputing (11/21/2017) | disputing (07/22/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10152 | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_733a6f42-add7-434a-9d4f-a8f11c11c41a-2025-07-22T190000.000Z","Brugada Syndrome | Hereditary Cardiovascular Disease","","",""
"KCNE5","HGNC:6241","https://search.clinicalgenome.org/kb/genes/HGNC:6241","Brugada syndrome","MONDO:0015263","https://search.clinicalgenome.org/kb/conditions/MONDO:0015263","Autosomal dominant inheritance","","","","","disputing (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10153","Brugada Syndrome","","",""
"KCNH1","HGNC:6250","https://search.clinicalgenome.org/kb/genes/HGNC:6250","KCNH1 associated disorder","MONDO:0100485","https://search.clinicalgenome.org/kb/conditions/MONDO:0100485","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (06/28/2023)","0 - No Evidence for Triplosensitivity (06/28/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6250","Dosage Working Group","definitive evidence (04/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b090a30-6065-4337-b930-d40585b142cd-2022-04-05T160000.000Z","Intellectual Disability and Autism","","",""
"KCNH2","HGNC:6251","https://search.clinicalgenome.org/kb/genes/HGNC:6251","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/26/2020)","0 - No Evidence for Triplosensitivity (02/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6251","Dosage Working Group","definitive evidence (09/25/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_462eeb4e-357d-4c3d-89f0-e386ac0d011b-2018-09-25T040000.000Z","Long QT Syndrome","Strong Actionability (08/28/2019) | Strong Actionability (08/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC131 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC131"," | "
"KCNH2","HGNC:6251","https://search.clinicalgenome.org/kb/genes/HGNC:6251","short QT syndrome","MONDO:0000453","https://search.clinicalgenome.org/kb/conditions/MONDO:0000453","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/26/2020)","0 - No Evidence for Triplosensitivity (02/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6251","Dosage Working Group","definitive evidence (08/03/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b033c3f-04de-4806-a9f3-0b318082b32e-2020-08-03T160000.000Z","Short QT Syndrome","","",""
"KCNH2","HGNC:6251","https://search.clinicalgenome.org/kb/genes/HGNC:6251","Brugada syndrome","MONDO:0015263","https://search.clinicalgenome.org/kb/conditions/MONDO:0015263","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/26/2020)","0 - No Evidence for Triplosensitivity (02/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6251","Dosage Working Group","disputing (06/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78a9eafc-a8d8-4091-9d1a-13a11804b496-2025-06-10T160000.000Z","Hereditary Cardiovascular Disease","","",""
"KCNH2","HGNC:6251","https://search.clinicalgenome.org/kb/genes/HGNC:6251","familial long QT syndrome","MONDO:0019171","https://search.clinicalgenome.org/kb/conditions/MONDO:0019171","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/26/2020)","0 - No Evidence for Triplosensitivity (02/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6251","Dosage Working Group","","","","Strong Actionability (08/28/2019) | Strong Actionability (08/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC131 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC131"," | "
"KCNH2","HGNC:6251","https://search.clinicalgenome.org/kb/genes/HGNC:6251","long QT syndrome 2","MONDO:0013367","https://search.clinicalgenome.org/kb/conditions/MONDO:0013367","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/26/2020)","0 - No Evidence for Triplosensitivity (02/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6251","Dosage Working Group","","","","Strong Actionability (08/28/2019) | Strong Actionability (08/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC131 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC131"," | "
"KCNH5","HGNC:6254","https://search.clinicalgenome.org/kb/genes/HGNC:6254","infantile-onset epilepsy","MONDO:0100207","https://search.clinicalgenome.org/kb/conditions/MONDO:0100207","Autosomal dominant inheritance","","","","","definitive evidence (11/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1794f26-8bc9-4e76-bc1e-4dfb6aab53ff-2022-11-15T050000.000Z","Epilepsy","","",""
"KCNJ1","HGNC:6255","https://search.clinicalgenome.org/kb/genes/HGNC:6255","Bartter disease type 2","MONDO:0009424","https://search.clinicalgenome.org/kb/conditions/MONDO:0009424","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/22/2012)","0 - No Evidence for Triplosensitivity (03/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6255","Dosage Working Group","definitive evidence (06/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4710334-8bbc-45ef-9e56-99e5a3c612ae-2022-06-16T180000.000Z","Tubulopathy","","",""
"KCNJ10","HGNC:6256","https://search.clinicalgenome.org/kb/genes/HGNC:6256","enlarged vestibular aqueduct syndrome","MONDO:0023069","https://search.clinicalgenome.org/kb/conditions/MONDO:0023069","Autosomal dominant inheritance","","","","","disputing (02/20/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09f81c95-1213-4029-a6bd-279e52f240c7-2018-02-20T170000.000Z","Hearing Loss","","",""
"KCNJ10","HGNC:6256","https://search.clinicalgenome.org/kb/genes/HGNC:6256","EAST syndrome","MONDO:0013005","https://search.clinicalgenome.org/kb/conditions/MONDO:0013005","Autosomal recessive inheritance","","","","","definitive evidence (06/29/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29ea43d4-6c86-4110-a34e-291fe56ec2c4-2023-06-29T160000.000Z","Tubulopathy","","",""
"KCNJ11","HGNC:6257","https://search.clinicalgenome.org/kb/genes/HGNC:6257","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Autosomal dominant inheritance","","","","","definitive evidence (01/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9353379e-564a-43bc-a859-7d27ab640e9e-2023-01-05T170000.000Z","Monogenic Diabetes","","",""
"KCNJ13","HGNC:6259","https://search.clinicalgenome.org/kb/genes/HGNC:6259","inherited retinal dystrophy","MONDO:0019118","https://search.clinicalgenome.org/kb/conditions/MONDO:0019118","Autosomal recessive inheritance","","","","","definitive evidence (05/12/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0427d8a-5d09-47ba-ae9c-3645f68a287a-2025-05-12T160000.000Z","Retina","","",""
"KCNJ16","HGNC:6262","https://search.clinicalgenome.org/kb/genes/HGNC:6262","hypokalemic alkalosis, familial, with specific renal tubulopathy","MONDO:0009423","https://search.clinicalgenome.org/kb/conditions/MONDO:0009423","Autosomal recessive inheritance","","","","","definitive evidence (10/01/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7b17b53-89bc-4f43-ab6f-c1808a4e4cbc-2025-10-01T160000.000Z","Tubulopathy","","",""
"KCNJ2","HGNC:6263","https://search.clinicalgenome.org/kb/genes/HGNC:6263","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","","","","","limited evidence (12/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5dc2acbc-8dbe-4142-8f71-89f1576dde08-2020-12-15T002535.799Z","Long QT Syndrome","","",""
"KCNJ2","HGNC:6263","https://search.clinicalgenome.org/kb/genes/HGNC:6263","catecholaminergic polymorphic ventricular tachycardia","MONDO:0017990","https://search.clinicalgenome.org/kb/conditions/MONDO:0017990","Autosomal dominant inheritance","","","","","disputing (01/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5f2490f-215e-427e-be7b-6a68e3f89e32-2021-01-20T170000.000Z","Catecholaminergic Polymorphic Ventricular Tachycardia","","",""
"KCNJ2","HGNC:6263","https://search.clinicalgenome.org/kb/genes/HGNC:6263","short QT syndrome","MONDO:0000453","https://search.clinicalgenome.org/kb/conditions/MONDO:0000453","Autosomal dominant inheritance","","","","","moderate evidence (10/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9111653a-7d9c-4d0e-94d9-daaa208a0b05-2020-10-27T160000.000Z","Short QT Syndrome","","",""
"KCNJ2","HGNC:6263","https://search.clinicalgenome.org/kb/genes/HGNC:6263","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Mode of inheritance","","","","","no known disease relationship (10/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c3ccc23-8c84-404a-a36a-b3286f6c70f7-2024-10-15T160000.000Z","Congenital Heart Disease","","",""
"KCNJ5","HGNC:6266","https://search.clinicalgenome.org/kb/genes/HGNC:6266","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","","","","","disputing (12/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6fa6a520-ae6b-4638-a092-a61831d481bf-2020-12-15T002641.568Z","Long QT Syndrome","","",""
"KCNJ5","HGNC:6266","https://search.clinicalgenome.org/kb/genes/HGNC:6266","familial hyperaldosteronism type III","MONDO:0013359","https://search.clinicalgenome.org/kb/conditions/MONDO:0013359","Autosomal dominant inheritance","","","","","moderate evidence (09/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_36f833b9-f7bc-4cc8-a81b-1299be6966ee-2025-09-08T160000.000Z","Tubulopathy","","",""
"KCNJ8","HGNC:6269","https://search.clinicalgenome.org/kb/genes/HGNC:6269","Brugada syndrome 1","MONDO:0011001","https://search.clinicalgenome.org/kb/conditions/MONDO:0011001","Autosomal dominant inheritance","","","","","disputing (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10155","Brugada Syndrome","","",""
"KCNK3","HGNC:6278","https://search.clinicalgenome.org/kb/genes/HGNC:6278","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","definitive evidence (05/08/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e20d0ee0-4a14-4569-a451-729348ce8d23-2021-05-08T152719.928Z","Pulmonary Hypertension","","",""
"KCNK4","HGNC:6279","https://search.clinicalgenome.org/kb/genes/HGNC:6279","facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome","MONDO:0032714","https://search.clinicalgenome.org/kb/conditions/MONDO:0032714","Autosomal dominant inheritance","","","","","moderate evidence (09/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c65a8f69-11ae-4a17-8e66-b4461a8c877b-2024-09-04T160000.000Z","Syndromic Disorders","","",""
"KCNK9","HGNC:6283","https://search.clinicalgenome.org/kb/genes/HGNC:6283","Birk-Barel syndrome","MONDO:0012856","https://search.clinicalgenome.org/kb/conditions/MONDO:0012856","N/A","0 - No Evidence for Haploinsufficiency (02/29/2012)","0 - No Evidence for Triplosensitivity (02/29/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6283","Dosage Working Group","","","","","",""
"KCNMA1","HGNC:6284","https://search.clinicalgenome.org/kb/genes/HGNC:6284","generalized epilepsy-paroxysmal dyskinesia syndrome","MONDO:0012276","https://search.clinicalgenome.org/kb/conditions/MONDO:0012276","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","definitive evidence (03/08/2022) | moderate evidence (03/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4bd10bb7-67d0-4c30-a944-9a46fd2f361a-2022-03-08T104405.484Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9aabc05e-8452-4b72-bd07-ae1a1fc40dfc-2022-03-08T114915.435Z","Epilepsy | Epilepsy","","",""
"KCNQ1","HGNC:6294","https://search.clinicalgenome.org/kb/genes/HGNC:6294","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2020)","0 - No Evidence for Triplosensitivity (10/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6294","Dosage Working Group","disputing (05/09/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b44eee3-56ea-4596-8d3e-e4d5c0ad8d60-2022-05-09T160000.000Z","Hereditary Cardiovascular Disease","","",""
"KCNQ1","HGNC:6294","https://search.clinicalgenome.org/kb/genes/HGNC:6294","Jervell and Lange-Nielsen syndrome","MONDO:0002441","https://search.clinicalgenome.org/kb/conditions/MONDO:0002441","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2020)","0 - No Evidence for Triplosensitivity (10/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6294","Dosage Working Group","definitive evidence (12/19/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cb5cd32-6663-48bc-b8b0-3b9ca34e2cb7-2017-12-19T050000.000Z","Hearing Loss","","",""
"KCNQ1","HGNC:6294","https://search.clinicalgenome.org/kb/genes/HGNC:6294","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2020)","0 - No Evidence for Triplosensitivity (10/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6294","Dosage Working Group","definitive evidence (09/25/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dff8874e-98a1-472b-9cc2-3f441b1c1064-2018-09-25T040000.000Z","Long QT Syndrome","Strong Actionability (08/28/2019) | Strong Actionability (08/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC131 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC131"," | "
"KCNQ1","HGNC:6294","https://search.clinicalgenome.org/kb/genes/HGNC:6294","short QT syndrome","MONDO:0000453","https://search.clinicalgenome.org/kb/conditions/MONDO:0000453","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2020)","0 - No Evidence for Triplosensitivity (10/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6294","Dosage Working Group","strong evidence (10/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5000dde0-156c-45b0-87db-35a935c69cb7-2020-10-27T160000.000Z","Short QT Syndrome","","",""
"KCNQ1","HGNC:6294","https://search.clinicalgenome.org/kb/genes/HGNC:6294","familial long QT syndrome","MONDO:0019171","https://search.clinicalgenome.org/kb/conditions/MONDO:0019171","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2020)","0 - No Evidence for Triplosensitivity (10/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6294","Dosage Working Group","","","","Strong Actionability (08/28/2019) | Strong Actionability (08/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC131 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC131"," | "
"KCNQ1","HGNC:6294","https://search.clinicalgenome.org/kb/genes/HGNC:6294","long QT syndrome 1","MONDO:0100316","https://search.clinicalgenome.org/kb/conditions/MONDO:0100316","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2020)","0 - No Evidence for Triplosensitivity (10/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6294","Dosage Working Group","","","","Strong Actionability (08/28/2019) | Strong Actionability (08/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC131 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC131"," | "
"KCNQ1OT1","HGNC:6295","https://search.clinicalgenome.org/kb/genes/HGNC:6295","Silver-Russell syndrome","MONDO:0008394","https://search.clinicalgenome.org/kb/conditions/MONDO:0008394","N/A","1 - Little Evidence for Haploinsufficiency (12/06/2023)","0 - No Evidence for Triplosensitivity (12/06/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6295","Dosage Working Group","","","","","",""
"KCNQ2","HGNC:6296","https://search.clinicalgenome.org/kb/genes/HGNC:6296","neonatal-onset developmental and epileptic encephalopathy","MONDO:0100455","https://search.clinicalgenome.org/kb/conditions/MONDO:0100455","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/18/2013)","0 - No Evidence for Triplosensitivity (07/18/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6296","Dosage Working Group","definitive evidence (06/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a631c0a5-8751-42df-878f-4b4ee9d1ec5c-2022-06-21T040000.000Z","Epilepsy","","",""
"KCNQ2","HGNC:6296","https://search.clinicalgenome.org/kb/genes/HGNC:6296","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/18/2013)","0 - No Evidence for Triplosensitivity (07/18/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6296","Dosage Working Group","definitive evidence (11/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e18266b2-576c-4e38-8007-9fe4faaf4f0e-2021-11-15T200000.000Z","Epilepsy","","",""
"KCNQ2","HGNC:6296","https://search.clinicalgenome.org/kb/genes/HGNC:6296","neonatal encephalopathy with non-epileptic myoclonus","MONDO:0100456","https://search.clinicalgenome.org/kb/conditions/MONDO:0100456","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/18/2013)","0 - No Evidence for Triplosensitivity (07/18/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6296","Dosage Working Group","definitive evidence (02/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a790a385-d2bb-49dd-9566-d5ff258ee5d8-2022-02-15T200000.000Z","Epilepsy","","",""
"KCNQ2","HGNC:6296","https://search.clinicalgenome.org/kb/genes/HGNC:6296","seizures, benign familial neonatal, 1","MONDO:0007365","https://search.clinicalgenome.org/kb/conditions/MONDO:0007365","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/18/2013)","0 - No Evidence for Triplosensitivity (07/18/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6296","Dosage Working Group","","","","","",""
"KCNQ3","HGNC:6297","https://search.clinicalgenome.org/kb/genes/HGNC:6297","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (08/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01b1e550-23b6-47a1-8906-e0d916b863a6-2023-08-01T170000.000Z","Epilepsy","","",""
"KCNQ3","HGNC:6297","https://search.clinicalgenome.org/kb/genes/HGNC:6297","self-limited familial neonatal epilepsy","MONDO:0100023","https://search.clinicalgenome.org/kb/conditions/MONDO:0100023","Autosomal dominant inheritance","","","","","moderate evidence (08/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_875415b6-877e-4a99-8591-f3de963a7920-2023-08-01T170000.000Z","Epilepsy","","",""
"KCNQ3","HGNC:6297","https://search.clinicalgenome.org/kb/genes/HGNC:6297","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","","","","","limited evidence (08/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_610858f1-e0cf-4db1-ae6c-95a1364b621e-2023-08-01T170000.000Z","Epilepsy","","",""
"KCNQ4","HGNC:6298","https://search.clinicalgenome.org/kb/genes/HGNC:6298","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","definitive evidence (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_88196c6d-4bd7-4aff-ba98-c7b4411c562d-2017-11-21T170000.000Z","Hearing Loss","","",""
"KCNT1","HGNC:18865","https://search.clinicalgenome.org/kb/genes/HGNC:18865","childhood-onset epilepsy syndrome","MONDO:0020072","https://search.clinicalgenome.org/kb/conditions/MONDO:0020072","Autosomal dominant inheritance","","","","","definitive evidence (08/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1fe70b9-1f8b-4fbf-b79f-9f05dfbcf01c-2022-08-16T160000.000Z","Epilepsy","","",""
"KCNV2","HGNC:19698","https://search.clinicalgenome.org/kb/genes/HGNC:19698","inherited retinal dystrophy","MONDO:0019118","https://search.clinicalgenome.org/kb/conditions/MONDO:0019118","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19698","Dosage Working Group","definitive evidence (09/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b260eab0-c2ff-405c-b720-c223ed6307e9-2023-09-07T160000.000Z","Retina","","",""
"KCNV2","HGNC:19698","https://search.clinicalgenome.org/kb/genes/HGNC:19698","cone dystrophy with supernormal rod response","MONDO:0012475","https://search.clinicalgenome.org/kb/conditions/MONDO:0012475","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19698","Dosage Working Group","","","","","",""
"KCTD7","HGNC:21957","https://search.clinicalgenome.org/kb/genes/HGNC:21957","progressive myoclonus epilepsy","MONDO:0020074","https://search.clinicalgenome.org/kb/conditions/MONDO:0020074","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21957","Dosage Working Group","definitive evidence (09/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6068b08-413e-4105-b8dc-97426d64c6c4-2022-09-07T160000.000Z","Epilepsy","","",""
"KDF1","HGNC:26624","https://search.clinicalgenome.org/kb/genes/HGNC:26624","ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type","MONDO:0015024","https://search.clinicalgenome.org/kb/conditions/MONDO:0015024","Autosomal dominant inheritance","","","","","definitive evidence (07/11/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01768f27-57ea-401c-9e99-0b31109e371d-2025-07-11T160000.000Z","Craniofacial Malformations","","",""
"KDM3B","HGNC:1337","https://search.clinicalgenome.org/kb/genes/HGNC:1337","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","","","","","definitive evidence (02/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4be69167-24df-4a3b-81c7-429399d0c727-2024-02-21T050000.000Z","Intellectual Disability and Autism","","",""
"KDM4B","HGNC:29136","https://search.clinicalgenome.org/kb/genes/HGNC:29136","intellectual developmental disorder, autosomal dominant 65","MONDO:0023657","https://search.clinicalgenome.org/kb/conditions/MONDO:0023657","Autosomal dominant inheritance","","","","","strong evidence (11/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_703aa9ae-30ab-48c2-bb38-05be24558879-2024-11-06T170000.000Z","Syndromic Disorders","","",""
"KDM5A","HGNC:9886","https://search.clinicalgenome.org/kb/genes/HGNC:9886","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (01/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3e727da-2ddf-418d-830d-b1da8850c93d-2024-01-08T170000.000Z","Congenital Heart Disease","","",""
"KDM5B","HGNC:18039","https://search.clinicalgenome.org/kb/genes/HGNC:18039","intellectual disability","MONDO:0001071","https://search.clinicalgenome.org/kb/conditions/MONDO:0001071","Autosomal recessive inheritance","1 - Little Evidence for Haploinsufficiency (01/04/2018)","0 - No Evidence for Triplosensitivity (01/04/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18039","Dosage Working Group","moderate evidence (03/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2ae3441f-82f6-4985-ba48-fd1de8ea6ce4-2022-03-01T170000.000Z","Intellectual Disability and Autism","","",""
"KDM5C","HGNC:11114","https://search.clinicalgenome.org/kb/genes/HGNC:11114","X-linked syndromic intellectual disability","MONDO:0020119","https://search.clinicalgenome.org/kb/conditions/MONDO:0020119","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/27/2023)","0 - No Evidence for Triplosensitivity (07/27/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11114","Dosage Working Group","definitive evidence (09/19/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_36896d71-1c04-4176-8cd9-16f5b283ef9c-2018-09-19T100000.000Z","Intellectual Disability and Autism","","",""
"KDM6A","HGNC:12637","https://search.clinicalgenome.org/kb/genes/HGNC:12637","Kabuki syndrome 2","MONDO:0010465","https://search.clinicalgenome.org/kb/conditions/MONDO:0010465","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/18/2013)","0 - No Evidence for Triplosensitivity (07/18/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12637","Dosage Working Group","definitive evidence (07/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb0b5b0f-d4c9-4c46-b4cc-2e516be7908d-2021-07-26T202903.760Z","SCID-CID","","",""
"KDM6B","HGNC:29012","https://search.clinicalgenome.org/kb/genes/HGNC:29012","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance | Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/23/2024)","0 - No Evidence for Triplosensitivity (10/23/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29012","Dosage Working Group","definitive evidence (01/19/2022) | limited evidence (02/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37e4fa5a-05b7-4cee-b43a-eb58488346bd-2022-01-19T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_010fe1d1-312f-45fa-93ca-887875c53607-2022-02-18T170000.000Z","Intellectual Disability and Autism | Intellectual Disability and Autism","","",""
"KDR","HGNC:6307","https://search.clinicalgenome.org/kb/genes/HGNC:6307","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","definitive evidence (05/12/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07a11f06-0904-4a38-9fd3-0aec2bece699-2021-05-12T165601.478Z","Pulmonary Hypertension","","",""
"KDSR","HGNC:4021","https://search.clinicalgenome.org/kb/genes/HGNC:4021","erythrokeratodermia variabilis et progressiva 4","MONDO:0033014","https://search.clinicalgenome.org/kb/conditions/MONDO:0033014","Autosomal recessive inheritance","","","","","definitive evidence (07/22/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a5d1542-feb7-4aaf-9079-55da7fb99a4a-2020-07-22T160000.000Z","Hemostasis Thrombosis","","",""
"KERA","HGNC:6309","https://search.clinicalgenome.org/kb/genes/HGNC:6309","cornea plana 2","MONDO:0009014","https://search.clinicalgenome.org/kb/conditions/MONDO:0009014","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6309","Dosage Working Group","","","","","",""
"KHDC3L","HGNC:33699","https://search.clinicalgenome.org/kb/genes/HGNC:33699","hydatidiform mole, recurrent, 2","MONDO:0013671","https://search.clinicalgenome.org/kb/conditions/MONDO:0013671","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:33699","Dosage Working Group","","","","","",""
"KIAA1549","HGNC:22219","https://search.clinicalgenome.org/kb/genes/HGNC:22219","retinitis pigmentosa 86","MONDO:0032834","https://search.clinicalgenome.org/kb/conditions/MONDO:0032834","Autosomal recessive inheritance","","","","","strong evidence (02/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_68fbf814-eb62-4a4e-b3a7-2fdd90a05029-2025-02-18T170000.000Z","Retina","","",""
"KIDINS220","HGNC:29508","https://search.clinicalgenome.org/kb/genes/HGNC:29508","ventriculomegaly and arthrogryposis","MONDO:0859184","https://search.clinicalgenome.org/kb/conditions/MONDO:0859184","Autosomal recessive inheritance","","","","","definitive evidence (10/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bd6659f-99b4-4274-9eb5-2500f98367b1-2024-10-08T160000.000Z","Prenatal","","",""
"KIDINS220","HGNC:29508","https://search.clinicalgenome.org/kb/genes/HGNC:29508","spastic paraplegia, intellectual disability, nystagmus, and obesity","MONDO:0015007","https://search.clinicalgenome.org/kb/conditions/MONDO:0015007","Autosomal dominant inheritance","","","","","moderate evidence (10/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22271df6-f033-4ecc-9aa7-2b5cdd8f060e-2024-10-29T160000.000Z","Cerebral Palsy","","",""
"KIF11","HGNC:6388","https://search.clinicalgenome.org/kb/genes/HGNC:6388","microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability","MONDO:0007918","https://search.clinicalgenome.org/kb/conditions/MONDO:0007918","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/01/2013)","0 - No Evidence for Triplosensitivity (08/01/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6388","Dosage Working Group","definitive evidence (07/01/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aabff7c5-06ad-4602-a6f7-fef1bca0d1df-2021-07-01T160000.000Z","Retina","","",""
"KIF1A","HGNC:888","https://search.clinicalgenome.org/kb/genes/HGNC:888","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (08/08/2013)","0 - No Evidence for Triplosensitivity (08/08/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:888","Dosage Working Group","definitive evidence (09/24/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d586d93-7066-4db0-b623-8b7e3eafdc06-2020-09-24T134254.893Z","Intellectual Disability and Autism","","",""
"KIF1B","HGNC:16636","https://search.clinicalgenome.org/kb/genes/HGNC:16636","Charcot-Marie-Tooth disease type 2A1","MONDO:0007308","https://search.clinicalgenome.org/kb/conditions/MONDO:0007308","Autosomal dominant inheritance","","","","","no known disease relationship (10/05/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae6ffeae-9609-47bf-89a9-4863cf6ef05c-2020-10-05T161930.420Z","Charcot-Marie-Tooth","","",""
"KIF1C","HGNC:6317","https://search.clinicalgenome.org/kb/genes/HGNC:6317","spastic ataxia 2","MONDO:0012651","https://search.clinicalgenome.org/kb/conditions/MONDO:0012651","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6317","Dosage Working Group","","","","","",""
"KIF20A","HGNC:9787","https://search.clinicalgenome.org/kb/genes/HGNC:9787","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal recessive inheritance","","","","","limited evidence (06/27/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6933da23-6904-43da-bd0e-5a4b65ad323d-2024-06-27T160000.000Z","Hereditary Cardiovascular Disease","","",""
"KIF21A","HGNC:19349","https://search.clinicalgenome.org/kb/genes/HGNC:19349","congenital fibrosis of extraocular muscles","MONDO:0007614","https://search.clinicalgenome.org/kb/conditions/MONDO:0007614","Autosomal dominant inheritance","","","","","definitive evidence (10/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc32bbc2-de76-42d0-8a6b-b3c3393ddd30-2021-10-26T144854.679Z","Brain Malformations","","",""
"KIF26A","HGNC:20226","https://search.clinicalgenome.org/kb/genes/HGNC:20226","complex cortical dysplasia with other brain malformations","MONDO:0000904","https://search.clinicalgenome.org/kb/conditions/MONDO:0000904","Autosomal recessive inheritance","","","","","strong evidence (03/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3056587d-5d40-4bef-bac8-4e84c3f657bf-2024-03-12T190000.000Z","Brain Malformations","","",""
"KIF4A","HGNC:13339","https://search.clinicalgenome.org/kb/genes/HGNC:13339","complex neurodevelopmental disorder with or without congenital anomalies","MONDO:0100465","https://search.clinicalgenome.org/kb/conditions/MONDO:0100465","X-linked inheritance","","","","","limited evidence (04/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d71cd45d-9a5e-4505-bf0d-8dcaafdbe795-2024-04-11T060000.000Z","Intellectual Disability and Autism","","",""
"KIF5A","HGNC:6323","https://search.clinicalgenome.org/kb/genes/HGNC:6323","amyotrophic lateral sclerosis, susceptibility to, 25","MONDO:0060670","https://search.clinicalgenome.org/kb/conditions/MONDO:0060670","Autosomal dominant inheritance","","","","","definitive evidence (05/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e7d2674-bce3-469c-b1e4-5cf57f5780a8-2022-05-26T110000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"KIF5A","HGNC:6323","https://search.clinicalgenome.org/kb/genes/HGNC:6323","inherited neurodegenerative disorder","MONDO:0024237","https://search.clinicalgenome.org/kb/conditions/MONDO:0024237","Autosomal dominant inheritance","","","","","definitive evidence (07/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aad7dc3e-b664-4ffb-af0f-4eba346b43e7-2023-07-12T160000.000Z","Charcot-Marie-Tooth","","",""
"KIF5C","HGNC:6325","https://search.clinicalgenome.org/kb/genes/HGNC:6325","complex cortical dysplasia with other brain malformations 2","MONDO:0014116","https://search.clinicalgenome.org/kb/conditions/MONDO:0014116","Autosomal dominant inheritance","","","","","moderate evidence (01/25/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c22eb3e1-4a72-480f-a360-20788fe1d9cd-2022-01-25T170000.000Z","Brain Malformations","","",""
"KIF7","HGNC:30497","https://search.clinicalgenome.org/kb/genes/HGNC:30497","acrocallosal syndrome","MONDO:0008708","https://search.clinicalgenome.org/kb/conditions/MONDO:0008708","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30497","Dosage Working Group","","","","","",""
"KIFBP","HGNC:23419","https://search.clinicalgenome.org/kb/genes/HGNC:23419","Goldberg-Shprintzen syndrome","MONDO:0012280","https://search.clinicalgenome.org/kb/conditions/MONDO:0012280","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23419","Dosage Working Group","definitive evidence (07/25/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02e4e47a-f888-4807-9eb6-f1061a6c124c-2023-07-25T190000.000Z","Brain Malformations","","",""
"KIRREL3","HGNC:23204","https://search.clinicalgenome.org/kb/genes/HGNC:23204","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","disputing (11/08/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55fd22eb-792f-4e84-926d-846aae0f4733-2023-11-08T170000.000Z","Intellectual Disability and Autism","","",""
"KISS1","HGNC:6341","https://search.clinicalgenome.org/kb/genes/HGNC:6341","hypogonadotropic hypogonadism 13 with or without anosmia","MONDO:0013915","https://search.clinicalgenome.org/kb/conditions/MONDO:0013915","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6341","Dosage Working Group","","","","","",""
"KIT","HGNC:6342","https://search.clinicalgenome.org/kb/genes/HGNC:6342","gastrointestinal stromal tumor","MONDO:0011719","https://search.clinicalgenome.org/kb/conditions/MONDO:0011719","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/08/2024)","0 - No Evidence for Triplosensitivity (05/08/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6342","Dosage Working Group","definitive evidence (01/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa076c63-8ffe-46ff-ba44-255a6fca07e5-2020-01-14T184619.396Z","Hereditary Cancer","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/02/2021)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1040",""
"KIT","HGNC:6342","https://search.clinicalgenome.org/kb/genes/HGNC:6342","piebaldism","MONDO:0008244","https://search.clinicalgenome.org/kb/conditions/MONDO:0008244","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/08/2024)","0 - No Evidence for Triplosensitivity (05/08/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6342","Dosage Working Group","","","","","",""
"KITLG","HGNC:6343","https://search.clinicalgenome.org/kb/genes/HGNC:6343","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","limited evidence (01/16/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2934de4-e4d7-41b7-8d12-83372e3b1b28-2018-01-16T170000.000Z","Hearing Loss","","",""
"KIZ","HGNC:15865","https://search.clinicalgenome.org/kb/genes/HGNC:15865","KIZ-related retinopathy","MONDO:0700232","https://search.clinicalgenome.org/kb/conditions/MONDO:0700232","Autosomal recessive inheritance","","","","","definitive evidence (02/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0705bfe-f3fa-495f-8a5d-77561d0afe91-2023-02-02T170000.000Z","Retina","","",""
"KLF10","HGNC:11810","https://search.clinicalgenome.org/kb/genes/HGNC:11810","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","limited evidence (09/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_524bb91c-07d4-4f65-bdc0-fc568a5930c8-2022-09-14T160000.000Z","Hereditary Cardiovascular Disease","","",""
"KLF11","HGNC:11811","https://search.clinicalgenome.org/kb/genes/HGNC:11811","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Autosomal dominant inheritance","","","","","refuting evidence (02/08/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1e38a49-7c12-4514-a2a1-109e04da146f-2023-02-08T170000.000Z","Monogenic Diabetes","","",""
"KLF13","HGNC:13672","https://search.clinicalgenome.org/kb/genes/HGNC:13672","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","moderate evidence (02/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0eb567cb-68fa-42bb-a80d-cc7cbfb16d6d-2024-02-12T170000.000Z","Congenital Heart Disease","","",""
"KLF2","HGNC:6347","https://search.clinicalgenome.org/kb/genes/HGNC:6347","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","limited evidence (11/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1544c7bb-410b-4340-ab70-0bd431426c04-2022-11-03T160000.000Z","Pulmonary Hypertension","","",""
"KLHL20","HGNC:25056","https://search.clinicalgenome.org/kb/genes/HGNC:25056","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","moderate evidence (06/17/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_753f86af-5043-49d7-84af-e8264f67d18d-2025-06-17T160000.000Z","Epilepsy","","",""
"KLHL24","HGNC:25947","https://search.clinicalgenome.org/kb/genes/HGNC:25947","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal recessive inheritance","","","","","moderate evidence (09/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1d4ce43-4c2d-41a0-b821-a11ac8eb8fca-2023-09-28T160000.000Z","Hereditary Cardiovascular Disease","","",""
"KLHL40","HGNC:30372","https://search.clinicalgenome.org/kb/genes/HGNC:30372","nemaline myopathy 8","MONDO:0014138","https://search.clinicalgenome.org/kb/conditions/MONDO:0014138","Autosomal recessive inheritance","","","","","definitive evidence (11/05/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd1008a8-dd54-43d0-962c-82453975dc3a-2019-11-05T134603.480Z","Congenital Myopathies","","",""
"KLHL41","HGNC:16905","https://search.clinicalgenome.org/kb/genes/HGNC:16905","nemaline myopathy 9","MONDO:0014326","https://search.clinicalgenome.org/kb/conditions/MONDO:0014326","Autosomal recessive inheritance","","","","","moderate evidence (10/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6bd51c2-e7b8-4938-a700-fd0e393143a7-2024-10-28T160000.000Z","Congenital Myopathies","","",""
"KLK1","HGNC:6357","https://search.clinicalgenome.org/kb/genes/HGNC:6357","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","limited evidence (11/04/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d29c7f8-ced6-43b3-b124-8d4039c6f99b-2022-11-04T160000.000Z","Pulmonary Hypertension","","",""
"KLKB1","HGNC:6371","https://search.clinicalgenome.org/kb/genes/HGNC:6371","inherited prekallikrein deficiency","MONDO:0012901","https://search.clinicalgenome.org/kb/conditions/MONDO:0012901","Autosomal recessive inheritance","","","","","definitive evidence (12/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ada3e3e0-165c-4bfb-af20-d811b7b8d9b8-2022-12-05T170000.000Z","Hemostasis Thrombosis","","",""
"KMO","HGNC:6381","https://search.clinicalgenome.org/kb/genes/HGNC:6381","pellagra","MONDO:0019975","https://search.clinicalgenome.org/kb/conditions/MONDO:0019975","Autosomal recessive inheritance","","","","","no known disease relationship (05/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47847642-c495-43ac-92d4-854ecdd773ba-2023-05-12T160000.000Z","Aminoacidopathy","","",""
"KMT2A","HGNC:7132","https://search.clinicalgenome.org/kb/genes/HGNC:7132","Wiedemann-Steiner syndrome","MONDO:0011518","https://search.clinicalgenome.org/kb/conditions/MONDO:0011518","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/23/2018)","0 - No Evidence for Triplosensitivity (05/23/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7132","Dosage Working Group","definitive evidence (05/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a002e1eb-0420-4889-b3f1-b8fe226786f9-2022-05-22T002824.468Z","Syndromic Disorders","","",""
"KMT2B","HGNC:15840","https://search.clinicalgenome.org/kb/genes/HGNC:15840","complex neurodevelopmental disorder with motor features","MONDO:0100516","https://search.clinicalgenome.org/kb/conditions/MONDO:0100516","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/13/2025)","0 - No Evidence for Triplosensitivity (05/13/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15840","Dosage Working Group","definitive evidence (04/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de51a52b-05a3-4429-874f-a38e280ecbaf-2023-04-17T180000.000Z","Intellectual Disability and Autism","","",""
"KMT2C","HGNC:13726","https://search.clinicalgenome.org/kb/genes/HGNC:13726","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/24/2018)","0 - No Evidence for Triplosensitivity (01/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13726","Dosage Working Group","definitive evidence (03/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1dcdd6c-30e0-4d06-8df5-f120b1b02477-2022-03-02T170000.000Z","Intellectual Disability and Autism","","",""
"KMT2D","HGNC:7133","https://search.clinicalgenome.org/kb/genes/HGNC:7133","Kabuki syndrome 1","MONDO:0007843","https://search.clinicalgenome.org/kb/conditions/MONDO:0007843","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/23/2020)","0 - No Evidence for Triplosensitivity (01/23/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7133","Dosage Working Group","definitive evidence (08/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15029985-0c1a-4835-95fe-eb05dedaf85c-2025-08-14T160000.000Z","SCID-CID","","",""
"KMT2E","HGNC:18541","https://search.clinicalgenome.org/kb/genes/HGNC:18541","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/29/2021)","0 - No Evidence for Triplosensitivity (12/29/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18541","Dosage Working Group","definitive evidence (08/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d0a0603-e446-4bb9-a202-4f8066a60c5a-2022-08-02T180000.000Z","Intellectual Disability and Autism","","",""
"KMT2E","HGNC:18541","https://search.clinicalgenome.org/kb/genes/HGNC:18541","O'Donnell-Luria-Rodan syndrome","MONDO:0032793","https://search.clinicalgenome.org/kb/conditions/MONDO:0032793","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/29/2021)","0 - No Evidence for Triplosensitivity (12/29/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18541","Dosage Working Group","","","","","",""
"KMT5B","HGNC:24283","https://search.clinicalgenome.org/kb/genes/HGNC:24283","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/13/2023)","0 - No Evidence for Triplosensitivity (06/13/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24283","Dosage Working Group","definitive evidence (04/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_885d56b0-a2b0-4a3d-9f11-4034298e074e-2022-04-08T072351.945Z","Syndromic Disorders","","",""
"KNG1","HGNC:6383","https://search.clinicalgenome.org/kb/genes/HGNC:6383","congenital high-molecular-weight kininogen deficiency","MONDO:0009234","https://search.clinicalgenome.org/kb/conditions/MONDO:0009234","Autosomal recessive inheritance","","","","","definitive evidence (06/23/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6dbf4bc1-b04f-4f1d-8c11-2b7998370293-2021-06-23T160000.000Z","Hemostasis Thrombosis","","",""
"KPTN","HGNC:6404","https://search.clinicalgenome.org/kb/genes/HGNC:6404","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal recessive inheritance","","","","","definitive evidence (07/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7047f1c0-edd6-4807-88d4-94f698481a40-2025-07-16T040000.000Z","Intellectual Disability and Autism","","",""
"KRAS","HGNC:6407","https://search.clinicalgenome.org/kb/genes/HGNC:6407","Costello syndrome","MONDO:0009026","https://search.clinicalgenome.org/kb/conditions/MONDO:0009026","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/08/2015)","0 - No Evidence for Triplosensitivity (10/08/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6407","Dosage Working Group","disputing (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc9a82d0-8447-454c-8d54-def792d20e1d-2018-07-24T160000.000Z","RASopathy","","",""
"KRAS","HGNC:6407","https://search.clinicalgenome.org/kb/genes/HGNC:6407","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/08/2015)","0 - No Evidence for Triplosensitivity (10/08/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6407","Dosage Working Group","definitive evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6476a5fd-8f66-462b-b17a-43540dad3c1f-2018-07-24T160000.000Z","RASopathy","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"KRAS","HGNC:6407","https://search.clinicalgenome.org/kb/genes/HGNC:6407","cardiofaciocutaneous syndrome","MONDO:0015280","https://search.clinicalgenome.org/kb/conditions/MONDO:0015280","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/08/2015)","0 - No Evidence for Triplosensitivity (10/08/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6407","Dosage Working Group","strong evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_248e0d6b-9300-4d17-a350-f742fa92c82c-2018-07-24T160000.000Z","RASopathy","","",""
"KRAS","HGNC:6407","https://search.clinicalgenome.org/kb/genes/HGNC:6407","Noonan syndrome 3","MONDO:0012371","https://search.clinicalgenome.org/kb/conditions/MONDO:0012371","N/A","0 - No Evidence for Haploinsufficiency (10/08/2015)","0 - No Evidence for Triplosensitivity (10/08/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6407","Dosage Working Group","","","","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"KRIT1","HGNC:1573","https://search.clinicalgenome.org/kb/genes/HGNC:1573","famililal cerebral cavernous malformations","MONDO:0031037","https://search.clinicalgenome.org/kb/conditions/MONDO:0031037","N/A","","","","","","","","Limited Actionability (04/04/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC116",""
"KRIT1","HGNC:1573","https://search.clinicalgenome.org/kb/genes/HGNC:1573","cerebral cavernous malformation 1","MONDO:0020724","https://search.clinicalgenome.org/kb/conditions/MONDO:0020724","N/A","","","","","","","","Limited Actionability (04/04/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC116",""
"KRIT1","HGNC:1573","https://search.clinicalgenome.org/kb/genes/HGNC:1573","cerebral cavernous malformation","MONDO:0000820","https://search.clinicalgenome.org/kb/conditions/MONDO:0000820","N/A","","","","","","","","Limited Actionability (04/04/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC116",""
"KYNU","HGNC:6469","https://search.clinicalgenome.org/kb/genes/HGNC:6469","vertebral, cardiac, renal, and limb defects syndrome 2","MONDO:0060555","https://search.clinicalgenome.org/kb/conditions/MONDO:0060555","Autosomal recessive inheritance","","","","","definitive evidence (10/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70d2f25f-b3f0-4f1b-b7bf-ad8d3562c959-2022-10-14T160000.000Z","Aminoacidopathy","","",""
"L1CAM","HGNC:6470","https://search.clinicalgenome.org/kb/genes/HGNC:6470","L1 syndrome","MONDO:0017140","https://search.clinicalgenome.org/kb/conditions/MONDO:0017140","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/02/2020)","0 - No Evidence for Triplosensitivity (12/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6470","Dosage Working Group","definitive evidence (10/02/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8541f5b-a166-44cd-a7f3-fce263ef8fde-2019-10-02T160000.000Z","Intellectual Disability and Autism","","",""
"L1CAM","HGNC:6470","https://search.clinicalgenome.org/kb/genes/HGNC:6470","X-linked hydrocephalus with stenosis of the aqueduct of Sylvius","MONDO:0010611","https://search.clinicalgenome.org/kb/conditions/MONDO:0010611","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/02/2020)","0 - No Evidence for Triplosensitivity (12/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6470","Dosage Working Group","","","","","",""
"L2HGDH","HGNC:20499","https://search.clinicalgenome.org/kb/genes/HGNC:20499","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (07/31/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_77d708b3-e8e3-4739-832b-0395a63f7342-2023-07-31T160000.000Z","Mitochondrial Diseases","","",""
"LAMA1","HGNC:6481","https://search.clinicalgenome.org/kb/genes/HGNC:6481","ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome","MONDO:0014419","https://search.clinicalgenome.org/kb/conditions/MONDO:0014419","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6481","Dosage Working Group","","","","","",""
"LAMA2","HGNC:6482","https://search.clinicalgenome.org/kb/genes/HGNC:6482","LAMA2-related muscular dystrophy","MONDO:0100228","https://search.clinicalgenome.org/kb/conditions/MONDO:0100228","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/28/2018)","0 - No Evidence for Triplosensitivity (11/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6482","Dosage Working Group","definitive evidence (03/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53f18520-6a7c-4781-ad0e-09250570f10e-2022-03-14T204607.096Z","Congenital Myopathies","","",""
"LAMA3","HGNC:6483","https://search.clinicalgenome.org/kb/genes/HGNC:6483","junctional epidermolysis bullosa","MONDO:0017612","https://search.clinicalgenome.org/kb/conditions/MONDO:0017612","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6483","Dosage Working Group","","","","","",""
"LAMA4","HGNC:6484","https://search.clinicalgenome.org/kb/genes/HGNC:6484","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","limited evidence (11/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e937f98e-7577-48bd-a24a-361634ba0a8d-2024-11-15T170000.000Z","Dilated Cardiomyopathy","","",""
"LAMA5","HGNC:6485","https://search.clinicalgenome.org/kb/genes/HGNC:6485","LAMA5-related multisystemic syndrome","MONDO:0033856","https://search.clinicalgenome.org/kb/conditions/MONDO:0033856","Autosomal recessive inheritance","","","","","definitive evidence (04/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8afd69eb-1b10-4a25-b018-14cf0abf30af-2022-04-26T180000.000Z","Glomerulopathy","","",""
"LAMB1","HGNC:6486","https://search.clinicalgenome.org/kb/genes/HGNC:6486","cobblestone lissencephaly without muscular or ocular involvement","MONDO:0014077","https://search.clinicalgenome.org/kb/conditions/MONDO:0014077","Autosomal recessive inheritance","","","","","moderate evidence (11/15/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5461","General Gene Curation","","",""
"LAMC2","HGNC:6493","https://search.clinicalgenome.org/kb/genes/HGNC:6493","junctional epidermolysis bullosa","MONDO:0017612","https://search.clinicalgenome.org/kb/conditions/MONDO:0017612","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6493","Dosage Working Group","","","","","",""
"LAMC3","HGNC:6494","https://search.clinicalgenome.org/kb/genes/HGNC:6494","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","disputing (08/31/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ff89702-c97e-4ef9-91ce-2e37b66efd84-2020-08-31T220000.000Z","Intellectual Disability and Autism","","",""
"LAMP2","HGNC:6501","https://search.clinicalgenome.org/kb/genes/HGNC:6501","Danon disease","MONDO:0010281","https://search.clinicalgenome.org/kb/conditions/MONDO:0010281","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/09/2021)","0 - No Evidence for Triplosensitivity (02/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6501","Dosage Working Group","definitive evidence (10/11/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f0d4050-f510-438d-a477-0a12669945d8-2017-10-11T040000.000Z","Hypertrophic Cardiomyopathy","Moderate Actionability (08/08/2023) | Moderate Actionability (08/08/2023)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1031 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1031"," | "
"LARGE1","HGNC:6511","https://search.clinicalgenome.org/kb/genes/HGNC:6511","muscular dystrophy-dystroglycanopathy","MONDO:0018276","https://search.clinicalgenome.org/kb/conditions/MONDO:0018276","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6511","Dosage Working Group","definitive evidence (07/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98beb148-70ee-4448-8d53-12c26fddf855-2024-07-02T160000.000Z","Brain Malformations","","",""
"LARS2","HGNC:17095","https://search.clinicalgenome.org/kb/genes/HGNC:17095","Perrault syndrome","MONDO:0017312","https://search.clinicalgenome.org/kb/conditions/MONDO:0017312","Autosomal recessive inheritance","","","","","definitive evidence (06/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8afe11e7-7c53-46e2-b48e-37ee2bc144ce-2023-06-01T160000.000Z","Hearing Loss","","",""
"LAS1L","HGNC:25726","https://search.clinicalgenome.org/kb/genes/HGNC:25726","X-linked syndromic intellectual disability","MONDO:0020119","https://search.clinicalgenome.org/kb/conditions/MONDO:0020119","X-linked inheritance","","","","","limited evidence (09/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5b85dbb-3d49-4924-8294-e518ff56f048-2021-09-21T160000.000Z","Intellectual Disability and Autism","","",""
"LAT","HGNC:18874","https://search.clinicalgenome.org/kb/genes/HGNC:18874","severe combined immunodeficiency due to LAT deficiency","MONDO:0044721","https://search.clinicalgenome.org/kb/conditions/MONDO:0044721","Autosomal recessive inheritance","","","","","strong evidence (05/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf4a8572-c5ab-4a57-a9b3-ef1059180e8a-2022-05-10T135616.950Z","SCID-CID","","",""
"LBR","HGNC:6518","https://search.clinicalgenome.org/kb/genes/HGNC:6518","regressive spondylometaphyseal dysplasia","MONDO:0018663","https://search.clinicalgenome.org/kb/conditions/MONDO:0018663","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/23/2015)","0 - No Evidence for Triplosensitivity (02/23/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6518","Dosage Working Group","moderate evidence (08/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9363af5e-5076-4f7b-bff3-3c15751bca92-2023-08-07T160000.000Z","Skeletal Disorders","","",""
"LBR","HGNC:6518","https://search.clinicalgenome.org/kb/genes/HGNC:6518","Greenberg dysplasia","MONDO:0008974","https://search.clinicalgenome.org/kb/conditions/MONDO:0008974","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/23/2015)","0 - No Evidence for Triplosensitivity (02/23/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6518","Dosage Working Group","moderate evidence (11/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41096010-f7fc-49a5-be97-a20fc73e7e33-2023-11-01T160000.000Z","Skeletal Disorders","","",""
"LBX1","HGNC:16960","https://search.clinicalgenome.org/kb/genes/HGNC:16960","split hand-foot malformation 3","MONDO:0009525","https://search.clinicalgenome.org/kb/conditions/MONDO:0009525","N/A","0 - No Evidence for Haploinsufficiency (08/21/2014)","0 - No Evidence for Triplosensitivity (08/21/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16960","Dosage Working Group","","","","","",""
"LCA5","HGNC:31923","https://search.clinicalgenome.org/kb/genes/HGNC:31923","LCA5-related retinopathy","MONDO:0100445","https://search.clinicalgenome.org/kb/conditions/MONDO:0100445","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:31923","Dosage Working Group","definitive evidence (10/07/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ece57d88-4307-420a-aedb-4b5900248ea1-2021-10-07T160000.000Z","Retina","","",""
"LCA5","HGNC:31923","https://search.clinicalgenome.org/kb/genes/HGNC:31923","Leber congenital amaurosis 5","MONDO:0011473","https://search.clinicalgenome.org/kb/conditions/MONDO:0011473","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:31923","Dosage Working Group","","","","","",""
"LCK","HGNC:6524","https://search.clinicalgenome.org/kb/genes/HGNC:6524","severe combined immunodeficiency due to LCK deficiency","MONDO:0014334","https://search.clinicalgenome.org/kb/conditions/MONDO:0014334","Autosomal recessive inheritance","","","","","definitive evidence (07/17/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e301c04-c0a1-4e0f-a9e4-69a6bd4be915-2025-07-17T160000.000Z","SCID-CID","","",""
"LCP2","HGNC:6529","https://search.clinicalgenome.org/kb/genes/HGNC:6529","immunodeficiency 81","MONDO:0030302","https://search.clinicalgenome.org/kb/conditions/MONDO:0030302","Autosomal recessive inheritance","","","","","definitive evidence (02/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f14a481-2d4c-4cd0-a930-03db5bff6b9b-2024-02-15T180000.000Z","SCID-CID","","",""
"LCT","HGNC:6530","https://search.clinicalgenome.org/kb/genes/HGNC:6530","congenital lactase deficiency","MONDO:0009115","https://search.clinicalgenome.org/kb/conditions/MONDO:0009115","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6530","Dosage Working Group","","","","","",""
"LDB3","HGNC:15710","https://search.clinicalgenome.org/kb/genes/HGNC:15710","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","","","","","disputing (09/12/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ebdc3e8-2e0a-4a5e-8906-8e616d14008b-2019-09-12T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"LDB3","HGNC:15710","https://search.clinicalgenome.org/kb/genes/HGNC:15710","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","limited evidence (03/21/2025) | strong evidence (03/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7756e3c0-5a16-49b8-ac0f-220e79a4fa99-2025-03-21T040000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c9d89b2d-2761-47d5-a773-e592f8e6d1df-2025-03-21T040000.000Z","Dilated Cardiomyopathy | Dilated Cardiomyopathy","","",""
"LDLR","HGNC:6547","https://search.clinicalgenome.org/kb/genes/HGNC:6547","hypercholesterolemia, familial, 1","MONDO:0007750","https://search.clinicalgenome.org/kb/conditions/MONDO:0007750","Semidominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/27/2021)","0 - No Evidence for Triplosensitivity (10/27/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6547","Dosage Working Group","definitive evidence (02/24/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81788cfe-7520-4821-b80b-3ee0b2018909-2021-02-24T170000.000Z","General Gene Curation","Strong Actionability (08/03/2020) | Strong Actionability (08/03/2020) | Strong Actionability (08/03/2020) | Definitive Actionability (08/03/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC057 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC065 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC065 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC057"," |  |  | "
"LDLR","HGNC:6547","https://search.clinicalgenome.org/kb/genes/HGNC:6547","homozygous familial hypercholesterolemia","MONDO:0018328","https://search.clinicalgenome.org/kb/conditions/MONDO:0018328","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/27/2021)","0 - No Evidence for Triplosensitivity (10/27/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6547","Dosage Working Group","","","","Strong Actionability (08/03/2020) | Strong Actionability (08/03/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC065 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC065"," | "
"LDLRAP1","HGNC:18640","https://search.clinicalgenome.org/kb/genes/HGNC:18640","hypercholesterolemia, familial, 4","MONDO:0011374","https://search.clinicalgenome.org/kb/conditions/MONDO:0011374","Autosomal recessive inheritance","","","","","definitive evidence (09/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ade5ed9-10e4-44f4-b02e-cc17ba68f1ab-2022-09-22T160000.000Z","General Gene Curation","","",""
"LEFTY2","HGNC:3122","https://search.clinicalgenome.org/kb/genes/HGNC:3122","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (02/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7b409905-0612-4f4a-88e1-2fd978cf4554-2024-02-06T170000.000Z","Congenital Heart Disease","","",""
"LEMD3","HGNC:28887","https://search.clinicalgenome.org/kb/genes/HGNC:28887","Buschke-Ollendorff syndrome","MONDO:0008157","https://search.clinicalgenome.org/kb/conditions/MONDO:0008157","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/19/2020)","0 - No Evidence for Triplosensitivity (10/19/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28887","Dosage Working Group","","","","","",""
"LEO1","HGNC:30401","https://search.clinicalgenome.org/kb/genes/HGNC:30401","neurodevelopmental disorder","MONDO:0700092","https://search.clinicalgenome.org/kb/conditions/MONDO:0700092","N/A","1 - Little Evidence for Haploinsufficiency (03/14/2025)","0 - No Evidence for Triplosensitivity (03/14/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30401","Dosage Working Group","","","","","",""
"LEPR","HGNC:6554","https://search.clinicalgenome.org/kb/genes/HGNC:6554","obesity due to leptin receptor gene deficiency","MONDO:0013992","https://search.clinicalgenome.org/kb/conditions/MONDO:0013992","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6554","Dosage Working Group","","","","","",""
"LETM1","HGNC:6556","https://search.clinicalgenome.org/kb/genes/HGNC:6556","Wolf-Hirschhorn syndrome","MONDO:0008684","https://search.clinicalgenome.org/kb/conditions/MONDO:0008684","N/A","0 - No Evidence for Haploinsufficiency (02/03/2012)","0 - No Evidence for Triplosensitivity (02/03/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6556","Dosage Working Group","","","","","",""
"LFNG","HGNC:6560","https://search.clinicalgenome.org/kb/genes/HGNC:6560","spondylocostal dysostosis 3, autosomal recessive","MONDO:0012349","https://search.clinicalgenome.org/kb/conditions/MONDO:0012349","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6560","Dosage Working Group","","","","","",""
"LGALSL","HGNC:25012","https://search.clinicalgenome.org/kb/genes/HGNC:25012","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Mode of inheritance","","","","","limited evidence (02/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a2db59f-5293-4e5d-ae34-5a38d8c6ebdf-2023-02-14T170000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"LGI1","HGNC:6572","https://search.clinicalgenome.org/kb/genes/HGNC:6572","autosomal dominant epilepsy with auditory features","MONDO:0010898","https://search.clinicalgenome.org/kb/conditions/MONDO:0010898","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/08/2025)","0 - No Evidence for Triplosensitivity (07/08/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6572","Dosage Working Group","definitive evidence (07/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_662936d4-11a7-43f3-9daf-4ba1a7c92ffe-2020-07-07T183907.849Z","Epilepsy","","",""
"LHFPL5","HGNC:21253","https://search.clinicalgenome.org/kb/genes/HGNC:21253","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","definitive evidence (04/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a029f02-3524-4932-9293-9c02304fdd2b-2018-04-24T160000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"LHFPL5","HGNC:21253","https://search.clinicalgenome.org/kb/genes/HGNC:21253","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"LHFPL5","HGNC:21253","https://search.clinicalgenome.org/kb/genes/HGNC:21253","autosomal recessive nonsyndromic hearing loss 67","MONDO:0012460","https://search.clinicalgenome.org/kb/conditions/MONDO:0012460","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"LHFPL5","HGNC:21253","https://search.clinicalgenome.org/kb/genes/HGNC:21253","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"LHX3","HGNC:6595","https://search.clinicalgenome.org/kb/genes/HGNC:6595","non-acquired combined pituitary hormone deficiency with spine abnormalities","MONDO:0009091","https://search.clinicalgenome.org/kb/conditions/MONDO:0009091","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6595","Dosage Working Group","","","","","",""
"LHX4","HGNC:21734","https://search.clinicalgenome.org/kb/genes/HGNC:21734","short stature-pituitary and cerebellar defects-small sella turcica syndrome","MONDO:0009880","https://search.clinicalgenome.org/kb/conditions/MONDO:0009880","N/A","1 - Little Evidence for Haploinsufficiency (04/25/2022)","0 - No Evidence for Triplosensitivity (04/25/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21734","Dosage Working Group","","","","","",""
"LIAS","HGNC:16429","https://search.clinicalgenome.org/kb/genes/HGNC:16429","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (03/11/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec6f6c96-262d-4ab8-ab7a-b09d585689ca-2021-03-11T171936.261Z","Mitochondrial Diseases","","",""
"LIFR","HGNC:6597","https://search.clinicalgenome.org/kb/genes/HGNC:6597","obsolete Stüve-Wiedemann syndrome","MONDO:0011108","https://search.clinicalgenome.org/kb/conditions/MONDO:0011108","Autosomal recessive inheritance","","","","","definitive evidence (07/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e336431-a56a-4144-8554-6fe62e4cb298-2021-07-27T145127.876Z","Syndromic Disorders","","",""
"LIG1","HGNC:6598","https://search.clinicalgenome.org/kb/genes/HGNC:6598","immunodeficiency 96","MONDO:0030693","https://search.clinicalgenome.org/kb/conditions/MONDO:0030693","Autosomal recessive inheritance","","","","","definitive evidence (09/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7b33b7e-2161-47f4-a20c-9bd1f735d3f7-2025-09-18T160000.000Z","SCID-CID","","",""
"LIG4","HGNC:6601","https://search.clinicalgenome.org/kb/genes/HGNC:6601","DNA ligase IV deficiency","MONDO:0011686","https://search.clinicalgenome.org/kb/conditions/MONDO:0011686","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6601","Dosage Working Group","definitive evidence (04/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ec863c8-d668-4ebf-806e-e01f5a6407fe-2021-04-16T230148.883Z","SCID-CID","","",""
"LIMS2","HGNC:16084","https://search.clinicalgenome.org/kb/genes/HGNC:16084","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","","","","","disputing (11/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00284b9e-fc0e-4667-ad1b-fd68f2cdc490-2024-11-12T200000.000Z","Muscular Dystrophies and Myopathies","","",""
"LINS1","HGNC:30922","https://search.clinicalgenome.org/kb/genes/HGNC:30922","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30922","Dosage Working Group","definitive evidence (02/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_18885d8b-bd77-4386-a046-e39b7a9c4685-2023-02-07T063000.000Z","Intellectual Disability and Autism","","",""
"LINS1","HGNC:30922","https://search.clinicalgenome.org/kb/genes/HGNC:30922","intellectual disability, autosomal recessive 27","MONDO:0013702","https://search.clinicalgenome.org/kb/conditions/MONDO:0013702","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30922","Dosage Working Group","","","","","",""
"LIPA","HGNC:6617","https://search.clinicalgenome.org/kb/genes/HGNC:6617","lysosomal acid lipase deficiency","MONDO:0800449","https://search.clinicalgenome.org/kb/conditions/MONDO:0800449","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6617","Dosage Working Group","definitive evidence (04/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1691be18-3aa2-46e7-b6a6-e7acafb9f998-2023-04-28T040000.000Z","Lysosomal Diseases GCEP","","",""
"LIPT1","HGNC:29569","https://search.clinicalgenome.org/kb/genes/HGNC:29569","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (04/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55d66b81-fe31-4965-b5fc-483393af820d-2021-04-09T142912.496Z","Mitochondrial Diseases","","",""
"LIPT2","HGNC:37216","https://search.clinicalgenome.org/kb/genes/HGNC:37216","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","limited evidence (04/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8b411b3-7d8d-4fc4-89a5-f688f8117414-2024-04-29T040000.000Z","Mitochondrial Diseases","","",""
"LITAF","HGNC:16841","https://search.clinicalgenome.org/kb/genes/HGNC:16841","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/21/2016)","0 - No Evidence for Triplosensitivity (10/21/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16841","Dosage Working Group","moderate evidence (04/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7106097-314c-487a-9770-b7dea3f25f37-2020-04-07T160000.000Z","Charcot-Marie-Tooth","","",""
"LITAF","HGNC:16841","https://search.clinicalgenome.org/kb/genes/HGNC:16841","Charcot-Marie-Tooth disease type 1C","MONDO:0010995","https://search.clinicalgenome.org/kb/conditions/MONDO:0010995","N/A","0 - No Evidence for Haploinsufficiency (10/21/2016)","0 - No Evidence for Triplosensitivity (10/21/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16841","Dosage Working Group","","","","Limited Actionability (03/19/2024) | Moderate Actionability (03/19/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC129 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC129"," | "
"LITAF","HGNC:16841","https://search.clinicalgenome.org/kb/genes/HGNC:16841","Charcot-Marie-Tooth disease type 1","MONDO:0019011","https://search.clinicalgenome.org/kb/conditions/MONDO:0019011","N/A","0 - No Evidence for Haploinsufficiency (10/21/2016)","0 - No Evidence for Triplosensitivity (10/21/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16841","Dosage Working Group","","","","Limited Actionability (03/19/2024) | Moderate Actionability (03/19/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC129 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC129"," | "
"LMAN1","HGNC:6631","https://search.clinicalgenome.org/kb/genes/HGNC:6631","factor V and factor VIII, combined deficiency of, type 1","MONDO:0009206","https://search.clinicalgenome.org/kb/conditions/MONDO:0009206","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6631","Dosage Working Group","definitive evidence (11/27/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31792b8d-aca4-4832-b7f7-1993611777d7-2019-11-27T170000.000Z","Hemostasis Thrombosis","","",""
"LMBR1","HGNC:13243","https://search.clinicalgenome.org/kb/genes/HGNC:13243","acheiropody","MONDO:0008700","https://search.clinicalgenome.org/kb/conditions/MONDO:0008700","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (10/18/2012)","0 - No Evidence for Triplosensitivity (10/18/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13243","Dosage Working Group","","","","","",""
"LMBRD1","HGNC:23038","https://search.clinicalgenome.org/kb/genes/HGNC:23038","methylmalonic aciduria and homocystinuria type cblF","MONDO:0010183","https://search.clinicalgenome.org/kb/conditions/MONDO:0010183","Autosomal recessive inheritance","","","","","definitive evidence (03/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14c077fe-c0ff-43d5-8436-041db18b20b1-2021-03-26T160000.000Z","Aminoacidopathy","","",""
"LMNA","HGNC:6636","https://search.clinicalgenome.org/kb/genes/HGNC:6636","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/14/2023)","0 - No Evidence for Triplosensitivity (12/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6636","Dosage Working Group","limited evidence (09/06/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef503af9-9d10-4714-848b-34cfa0049c23-2019-09-06T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"LMNA","HGNC:6636","https://search.clinicalgenome.org/kb/genes/HGNC:6636","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/14/2023)","0 - No Evidence for Triplosensitivity (12/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6636","Dosage Working Group","definitive evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_132ea1ec-caa9-409a-8670-3edb2ec9c889-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"LMNA","HGNC:6636","https://search.clinicalgenome.org/kb/genes/HGNC:6636","lipodystrophy","MONDO:0006573","https://search.clinicalgenome.org/kb/conditions/MONDO:0006573","Semidominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/14/2023)","0 - No Evidence for Triplosensitivity (12/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6636","Dosage Working Group","definitive evidence (10/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9a2725cf-2492-4f4d-8646-7a757cdac3dc-2024-10-09T160000.000Z","Monogenic Diabetes","","",""
"LMNA","HGNC:6636","https://search.clinicalgenome.org/kb/genes/HGNC:6636","dilated cardiomyopathy 1A","MONDO:0007269","https://search.clinicalgenome.org/kb/conditions/MONDO:0007269","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/14/2023)","0 - No Evidence for Triplosensitivity (12/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6636","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC138",""
"LMNA","HGNC:6636","https://search.clinicalgenome.org/kb/genes/HGNC:6636","autosomal dominant Emery-Dreifuss muscular dystrophy","MONDO:0020336","https://search.clinicalgenome.org/kb/conditions/MONDO:0020336","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/14/2023)","0 - No Evidence for Triplosensitivity (12/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6636","Dosage Working Group","","","","Assertion Pending (07/13/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC143",""
"LMNA","HGNC:6636","https://search.clinicalgenome.org/kb/genes/HGNC:6636","Emery-Dreifuss muscular dystrophy","MONDO:0016830","https://search.clinicalgenome.org/kb/conditions/MONDO:0016830","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/14/2023)","0 - No Evidence for Triplosensitivity (12/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6636","Dosage Working Group","","","","Assertion Pending (07/13/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC143",""
"LMNA","HGNC:6636","https://search.clinicalgenome.org/kb/genes/HGNC:6636","Emery-Dreifuss muscular dystrophy 2, autosomal dominant","MONDO:0021569","https://search.clinicalgenome.org/kb/conditions/MONDO:0021569","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/14/2023)","0 - No Evidence for Triplosensitivity (12/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6636","Dosage Working Group","","","","Assertion Pending (07/13/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC143",""
"LMNB1","HGNC:6637","https://search.clinicalgenome.org/kb/genes/HGNC:6637","adult-onset autosomal dominant demyelinating leukodystrophy","MONDO:0008215","https://search.clinicalgenome.org/kb/conditions/MONDO:0008215","N/A","0 - No Evidence for Haploinsufficiency (10/25/2023)","3 - Sufficient Evidence for Triplosensitivity (10/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6637","Dosage Working Group","","","","","",""
"LMOD2","HGNC:6648","https://search.clinicalgenome.org/kb/genes/HGNC:6648","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","definitive evidence (10/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d19140d6-8200-4fce-9906-fdda527a4f7e-2024-10-04T160000.000Z","Dilated Cardiomyopathy","","",""
"LMOD3","HGNC:6649","https://search.clinicalgenome.org/kb/genes/HGNC:6649","nemaline myopathy 10","MONDO:0014513","https://search.clinicalgenome.org/kb/conditions/MONDO:0014513","Autosomal recessive inheritance","","","","","definitive evidence (09/09/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af248a78-5ef6-4c0b-b174-f43cc4688ec9-2019-09-09T160000.000Z","Congenital Myopathies","","",""
"LMX1A","HGNC:6653","https://search.clinicalgenome.org/kb/genes/HGNC:6653","autosomal dominant nonsyndromic hearing loss","MONDO:0019587","https://search.clinicalgenome.org/kb/conditions/MONDO:0019587","Autosomal dominant inheritance","","","","","definitive evidence (04/22/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_163f8708-7d3b-424a-826a-76e37260745c-2025-04-22T160000.000Z","Hearing Loss","","",""
"LMX1B","HGNC:6654","https://search.clinicalgenome.org/kb/genes/HGNC:6654","nail-patella syndrome","MONDO:0008061","https://search.clinicalgenome.org/kb/conditions/MONDO:0008061","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/10/2020)","0 - No Evidence for Triplosensitivity (11/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6654","Dosage Working Group","definitive evidence (07/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c89e1a52-3ef8-4a61-bf56-1e43cf88fc6e-2021-07-27T144211.405Z","Syndromic Disorders","","",""
"LONP1","HGNC:9479","https://search.clinicalgenome.org/kb/genes/HGNC:9479","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (04/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3da0a308-3a7e-4101-b40b-1f23db106aea-2021-04-09T140215.539Z","Mitochondrial Diseases","","",""
"LOX","HGNC:6664","https://search.clinicalgenome.org/kb/genes/HGNC:6664","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","","","","","strong evidence (07/25/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8258","Heritable Thoracic Aortic Aneurysm and Dissection","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC134 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC134"," | "
"LOXHD1","HGNC:26521","https://search.clinicalgenome.org/kb/genes/HGNC:26521","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26521","Dosage Working Group","definitive evidence (05/08/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a35c0909-7546-465c-a069-47e901fce483-2018-05-08T040000.000Z","Hearing Loss","","",""
"LOXHD1","HGNC:26521","https://search.clinicalgenome.org/kb/genes/HGNC:26521","autosomal recessive nonsyndromic hearing loss 77","MONDO:0013119","https://search.clinicalgenome.org/kb/conditions/MONDO:0013119","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26521","Dosage Working Group","","","","","",""
"LPAR6","HGNC:15520","https://search.clinicalgenome.org/kb/genes/HGNC:15520","hypotrichosis 8","MONDO:0010206","https://search.clinicalgenome.org/kb/conditions/MONDO:0010206","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15520","Dosage Working Group","","","","","",""
"LPIN1","HGNC:13345","https://search.clinicalgenome.org/kb/genes/HGNC:13345","myoglobinuria, acute recurrent, autosomal recessive","MONDO:0009992","https://search.clinicalgenome.org/kb/conditions/MONDO:0009992","Autosomal recessive inheritance","","","","","definitive evidence (09/25/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_642c8d4a-d498-4739-957d-a4e0d457362a-2018-09-25T160000.000Z","Fatty Acid Oxidation Disorders","Limited Actionability (03/31/2025) | Limited Actionability (03/31/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1032 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1032"," | "
"LPIN1","HGNC:13345","https://search.clinicalgenome.org/kb/genes/HGNC:13345","myoglobinuria, recurrent","MONDO:0010791","https://search.clinicalgenome.org/kb/conditions/MONDO:0010791","N/A","","","","","","","","Limited Actionability (03/31/2025) | Limited Actionability (03/31/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1032 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1032"," | "
"LPIN2","HGNC:14450","https://search.clinicalgenome.org/kb/genes/HGNC:14450","Majeed syndrome","MONDO:0012316","https://search.clinicalgenome.org/kb/conditions/MONDO:0012316","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14450","Dosage Working Group","definitive evidence (05/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ebe7cb7-3855-465d-ab11-dcde27f1e737-2024-05-15T160000.000Z","Monogenic Autoinflammatory Disease","","",""
"LRAT","HGNC:6685","https://search.clinicalgenome.org/kb/genes/HGNC:6685","Leber congenital amaurosis 14","MONDO:0013231","https://search.clinicalgenome.org/kb/conditions/MONDO:0013231","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6685","Dosage Working Group","","","","","",""
"LRBA","HGNC:1742","https://search.clinicalgenome.org/kb/genes/HGNC:1742","combined immunodeficiency due to LRBA deficiency","MONDO:0013863","https://search.clinicalgenome.org/kb/conditions/MONDO:0013863","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1742","Dosage Working Group","definitive evidence (01/06/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b12eaaeb-cc9d-48b8-b9cd-c0b243f48287-2025-01-06T050000.000Z","Antibody Deficiencies GCEP","","",""
"LRP12","HGNC:31708","https://search.clinicalgenome.org/kb/genes/HGNC:31708","oculopharyngodistal myopathy 1","MONDO:0020793","https://search.clinicalgenome.org/kb/conditions/MONDO:0020793","Autosomal dominant inheritance","","","","","moderate evidence (05/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f3f51a6-28e1-4585-8481-c5473dd8b00c-2024-05-14T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"LRP2","HGNC:6694","https://search.clinicalgenome.org/kb/genes/HGNC:6694","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/24/2019)","0 - No Evidence for Triplosensitivity (04/24/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6694","Dosage Working Group","no known disease relationship (09/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_291857b3-399a-42fa-86f7-d4077f97accd-2024-09-09T160000.000Z","Congenital Heart Disease","","",""
"LRP2","HGNC:6694","https://search.clinicalgenome.org/kb/genes/HGNC:6694","Donnai-Barrow syndrome","MONDO:0009104","https://search.clinicalgenome.org/kb/conditions/MONDO:0009104","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (04/24/2019)","0 - No Evidence for Triplosensitivity (04/24/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6694","Dosage Working Group","","","","","",""
"LRP4","HGNC:6696","https://search.clinicalgenome.org/kb/genes/HGNC:6696","Cenani-Lenz syndactyly syndrome","MONDO:0008931","https://search.clinicalgenome.org/kb/conditions/MONDO:0008931","Autosomal recessive inheritance","","","","","definitive evidence (04/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_725d13e2-a182-4e1e-8359-3c35a2ca46e9-2023-04-21T160000.000Z","Syndromic Disorders","","",""
"LRP4","HGNC:6696","https://search.clinicalgenome.org/kb/genes/HGNC:6696","congenital myasthenic syndrome 17","MONDO:0014578","https://search.clinicalgenome.org/kb/conditions/MONDO:0014578","Autosomal recessive inheritance","","","","","limited evidence (04/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73e799e4-91c7-4ccc-a55f-10a80f619e08-2023-04-21T160000.000Z","Syndromic Disorders","","",""
"LRP5","HGNC:6697","https://search.clinicalgenome.org/kb/genes/HGNC:6697","LRP5-related exudative vitreoretinopathy","MONDO:0700228","https://search.clinicalgenome.org/kb/conditions/MONDO:0700228","Autosomal recessive inheritance","1 - Little Evidence for Haploinsufficiency (04/09/2024)","0 - No Evidence for Triplosensitivity (04/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6697","Dosage Working Group","definitive evidence (03/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c46e0508-399f-48d0-9dbc-55f10cf8460d-2023-03-02T170000.000Z","Retina","","",""
"LRP5","HGNC:6697","https://search.clinicalgenome.org/kb/genes/HGNC:6697","exudative vitreoretinopathy 4","MONDO:0011151","https://search.clinicalgenome.org/kb/conditions/MONDO:0011151","N/A","1 - Little Evidence for Haploinsufficiency (04/09/2024)","0 - No Evidence for Triplosensitivity (04/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6697","Dosage Working Group","","","","","",""
"LRPAP1","HGNC:6701","https://search.clinicalgenome.org/kb/genes/HGNC:6701","myopia 23, autosomal recessive","MONDO:0014183","https://search.clinicalgenome.org/kb/conditions/MONDO:0014183","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6701","Dosage Working Group","","","","","",""
"LRPPRC","HGNC:15714","https://search.clinicalgenome.org/kb/genes/HGNC:15714","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/20/2017)","0 - No Evidence for Triplosensitivity (03/20/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15714","Dosage Working Group","definitive evidence (12/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79691365-1911-423c-ab14-73a1f509ed22-2019-12-19T190157.942Z","Mitochondrial Diseases","","",""
"LRPPRC","HGNC:15714","https://search.clinicalgenome.org/kb/genes/HGNC:15714","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/20/2017)","0 - No Evidence for Triplosensitivity (03/20/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15714","Dosage Working Group","definitive evidence (06/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72f89e4d-6a21-4556-b601-ce87f4ab60d4-2024-06-20T040000.000Z","Mitochondrial Diseases","","",""
"LRPPRC","HGNC:15714","https://search.clinicalgenome.org/kb/genes/HGNC:15714","congenital lactic acidosis, Saguenay-Lac-Saint-Jean type","MONDO:0009069","https://search.clinicalgenome.org/kb/conditions/MONDO:0009069","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/20/2017)","0 - No Evidence for Triplosensitivity (03/20/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15714","Dosage Working Group","","","","","",""
"LRRC10","HGNC:20264","https://search.clinicalgenome.org/kb/genes/HGNC:20264","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","no known disease relationship (08/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7403d325-ff12-4c92-a308-b2054e9861c5-2024-08-09T160000.000Z","Dilated Cardiomyopathy","","",""
"LRRC56","HGNC:25430","https://search.clinicalgenome.org/kb/genes/HGNC:25430","ciliary dyskinesia, primary, 39","MONDO:0032637","https://search.clinicalgenome.org/kb/conditions/MONDO:0032637","Autosomal recessive inheritance","","","","","moderate evidence (11/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ceef14a8-34d2-41ac-8c03-47c5eaff8986-2024-11-19T200000.000Z","Motile Ciliopathy GCEP","","",""
"LRRC8A","HGNC:19027","https://search.clinicalgenome.org/kb/genes/HGNC:19027","agammaglobulinemia","MONDO:0015977","https://search.clinicalgenome.org/kb/conditions/MONDO:0015977","Autosomal dominant inheritance","","","","","limited evidence (08/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34cc03aa-0a62-41ba-bd58-e0affc50cf25-2024-08-19T180000.000Z","Antibody Deficiencies GCEP","","",""
"LRRK2","HGNC:18618","https://search.clinicalgenome.org/kb/genes/HGNC:18618","Parkinson disease","MONDO:0005180","https://search.clinicalgenome.org/kb/conditions/MONDO:0005180","Autosomal dominant inheritance","","","","","definitive evidence (05/03/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2728e13a-b95a-4c55-8cba-082260094ecd-2021-05-03T160000.000Z","Parkinson's Disease","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"LRRK2","HGNC:18618","https://search.clinicalgenome.org/kb/genes/HGNC:18618","autosomal dominant Parkinson disease 8","MONDO:0011764","https://search.clinicalgenome.org/kb/conditions/MONDO:0011764","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"LRRK2","HGNC:18618","https://search.clinicalgenome.org/kb/genes/HGNC:18618","obsolete hereditary late onset Parkinson disease","MONDO:0018466","https://search.clinicalgenome.org/kb/conditions/MONDO:0018466","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"LRRK2","HGNC:18618","https://search.clinicalgenome.org/kb/genes/HGNC:18618","late-onset Parkinson disease","MONDO:0008199","https://search.clinicalgenome.org/kb/conditions/MONDO:0008199","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"LRSAM1","HGNC:25135","https://search.clinicalgenome.org/kb/genes/HGNC:25135","Charcot-Marie-Tooth disease axonal type 2P","MONDO:0013753","https://search.clinicalgenome.org/kb/conditions/MONDO:0013753","Autosomal dominant inheritance","","","","","definitive evidence (11/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82dac4c0-801f-4704-b59d-0a9441423d5a-2023-11-28T170000.000Z","Charcot-Marie-Tooth","","",""
"LRTOMT","HGNC:25033","https://search.clinicalgenome.org/kb/genes/HGNC:25033","autosomal recessive nonsyndromic hearing loss 63","MONDO:0012670","https://search.clinicalgenome.org/kb/conditions/MONDO:0012670","Autosomal recessive inheritance","","","","","definitive evidence (02/15/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5662","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"LRTOMT","HGNC:25033","https://search.clinicalgenome.org/kb/genes/HGNC:25033","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"LRTOMT","HGNC:25033","https://search.clinicalgenome.org/kb/genes/HGNC:25033","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"LRTOMT","HGNC:25033","https://search.clinicalgenome.org/kb/genes/HGNC:25033","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"LTBP2","HGNC:6715","https://search.clinicalgenome.org/kb/genes/HGNC:6715","glaucoma 3, primary congenital, D","MONDO:0013122","https://search.clinicalgenome.org/kb/conditions/MONDO:0013122","Autosomal recessive inheritance","","","","","definitive evidence (03/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f3a9450-53ca-4e64-99c8-4cc195e851d5-2023-03-16T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"LYRM7","HGNC:28072","https://search.clinicalgenome.org/kb/genes/HGNC:28072","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28072","Dosage Working Group","definitive evidence (04/04/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac7b4d77-f1e5-4b7a-a7c4-e37db6c49026-2022-04-04T160000.000Z","Mitochondrial Diseases","","",""
"LYRM7","HGNC:28072","https://search.clinicalgenome.org/kb/genes/HGNC:28072","mitochondrial complex III deficiency nuclear type 8","MONDO:0014364","https://search.clinicalgenome.org/kb/conditions/MONDO:0014364","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28072","Dosage Working Group","","","","","",""
"LYST","HGNC:1968","https://search.clinicalgenome.org/kb/genes/HGNC:1968","Chediak-Higashi syndrome","MONDO:0008963","https://search.clinicalgenome.org/kb/conditions/MONDO:0008963","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1968","Dosage Working Group","definitive evidence (05/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d752f7c-43d2-4ba9-910f-f286f5443012-2020-05-27T040000.000Z","Hemostasis Thrombosis","","",""
"LZTFL1","HGNC:6741","https://search.clinicalgenome.org/kb/genes/HGNC:6741","LZTFL1-related ciliopathy","MONDO:1040046","https://search.clinicalgenome.org/kb/conditions/MONDO:1040046","Autosomal recessive inheritance","","","","","definitive evidence (01/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e352868c-b5d8-451d-89ef-61a147ea7b4f-2024-01-04T170000.000Z","Retina","","",""
"LZTR1","HGNC:6742","https://search.clinicalgenome.org/kb/genes/HGNC:6742","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal recessive inheritance | Autosomal dominant inheritance","","","","","definitive evidence (08/27/2020) | definitive evidence (04/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7aa1e103-4f77-4c50-99c5-621a6a837b95-2020-08-27T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f21db9c-87ea-4095-96ca-4277eaa21232-2020-04-23T170000.000Z","RASopathy | RASopathy","","",""
"MAB21L1","HGNC:6757","https://search.clinicalgenome.org/kb/genes/HGNC:6757","cerebellar, ocular, craniofacial, and genital syndrome","MONDO:0032774","https://search.clinicalgenome.org/kb/conditions/MONDO:0032774","Autosomal recessive inheritance","","","","","strong evidence (04/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8fae9544-f1fa-4155-8ff4-7719efb37d1a-2024-04-19T160000.000Z","Syndromic Disorders","","",""
"MAB21L2","HGNC:6758","https://search.clinicalgenome.org/kb/genes/HGNC:6758","colobomatous microphthalmia-rhizomelic dysplasia syndrome","MONDO:0014380","https://search.clinicalgenome.org/kb/conditions/MONDO:0014380","Autosomal dominant inheritance","","","","","definitive evidence (07/25/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d89e935d-55fe-43f1-b2a3-d1f0eca74928-2023-07-25T160000.000Z","Syndromic Disorders","","",""
"MACF1","HGNC:13664","https://search.clinicalgenome.org/kb/genes/HGNC:13664","lissencephaly spectrum disorder with complex brainstem malformation","MONDO:0100472","https://search.clinicalgenome.org/kb/conditions/MONDO:0100472","Autosomal dominant inheritance","","","","","moderate evidence (07/25/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67d61f95-4ea3-41a7-ab90-e642c2c65c2a-2023-07-25T160000.000Z","Brain Malformations","","",""
"MAG","HGNC:6783","https://search.clinicalgenome.org/kb/genes/HGNC:6783","complex hereditary spastic paraplegia","MONDO:0015150","https://search.clinicalgenome.org/kb/conditions/MONDO:0015150","Autosomal recessive inheritance","","","","","definitive evidence (11/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27976cb3-605a-4f56-a262-64dfd9793559-2023-11-20T190000.000Z","Cerebral Palsy","","",""
"MAGED2","HGNC:16353","https://search.clinicalgenome.org/kb/genes/HGNC:16353","Bartter disease type 5","MONDO:0010503","https://search.clinicalgenome.org/kb/conditions/MONDO:0010503","X-linked inheritance","","","","","definitive evidence (03/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89215cc7-7d55-4cc9-a53a-d8636f786e6d-2022-03-17T060000.000Z","Tubulopathy","","",""
"MAGEL2","HGNC:6814","https://search.clinicalgenome.org/kb/genes/HGNC:6814","Schaaf-Yang syndrome","MONDO:0014243","https://search.clinicalgenome.org/kb/conditions/MONDO:0014243","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (10/22/2025)","0 - No Evidence for Triplosensitivity (10/22/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6814","Dosage Working Group","definitive evidence (06/01/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa89f10b-6ccf-4c69-aef3-fc2f6c8e6ea9-2021-06-01T160000.000Z","Intellectual Disability and Autism","","",""
"MAGI2","HGNC:18957","https://search.clinicalgenome.org/kb/genes/HGNC:18957","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","","","","","refuting evidence (10/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d622b88-9c77-47f8-93b1-808517da0cff-2023-10-17T190000.000Z","Epilepsy","","",""
"MAGT1","HGNC:28880","https://search.clinicalgenome.org/kb/genes/HGNC:28880","X-linked intellectual disability","MONDO:0100284","https://search.clinicalgenome.org/kb/conditions/MONDO:0100284","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/22/2021)","0 - No Evidence for Triplosensitivity (09/22/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28880","Dosage Working Group","disputing (02/08/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d00155ee-71d6-4d9d-bb08-91a0dee42932-2023-02-08T170000.000Z","Intellectual Disability and Autism","","",""
"MAGT1","HGNC:28880","https://search.clinicalgenome.org/kb/genes/HGNC:28880","X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia","MONDO:0010455","https://search.clinicalgenome.org/kb/conditions/MONDO:0010455","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/22/2021)","0 - No Evidence for Triplosensitivity (09/22/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28880","Dosage Working Group","","","","","",""
"MAK","HGNC:6816","https://search.clinicalgenome.org/kb/genes/HGNC:6816","MAK-related retinopathy","MONDO:0700229","https://search.clinicalgenome.org/kb/conditions/MONDO:0700229","Autosomal recessive inheritance","","","","","definitive evidence (03/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee785a8d-420d-4c3a-a585-c963d06df52e-2023-03-02T170000.000Z","Retina","","",""
"MALT1","HGNC:6819","https://search.clinicalgenome.org/kb/genes/HGNC:6819","combined immunodeficiency due to MALT1 deficiency","MONDO:0014197","https://search.clinicalgenome.org/kb/conditions/MONDO:0014197","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6819","Dosage Working Group","definitive evidence (07/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_537efc87-5f45-489b-9aa0-6bd3e029754e-2022-07-21T160000.000Z","SCID-CID","","",""
"MAML2","HGNC:16259","https://search.clinicalgenome.org/kb/genes/HGNC:16259","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Mode of inheritance","","","","","no known disease relationship (09/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73720a6e-7ce2-40bb-ae2a-cbdb74022a62-2024-09-03T160000.000Z","Congenital Heart Disease","","",""
"MAN1B1","HGNC:6823","https://search.clinicalgenome.org/kb/genes/HGNC:6823","MAN1B1-congenital disorder of glycosylation","MONDO:0018349","https://search.clinicalgenome.org/kb/conditions/MONDO:0018349","Autosomal recessive inheritance","","","","","definitive evidence (08/04/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0f50bc5-f7ac-4e0a-9762-d6cad9cc4585-2020-08-04T114702.993Z","Intellectual Disability and Autism","","",""
"MAN2B1","HGNC:6826","https://search.clinicalgenome.org/kb/genes/HGNC:6826","alpha-mannosidosis","MONDO:0009561","https://search.clinicalgenome.org/kb/conditions/MONDO:0009561","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6826","Dosage Working Group","definitive evidence (09/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef3b8e84-1f36-4aae-b167-b50dd074bf2b-2022-09-02T160000.000Z","Lysosomal Diseases GCEP","","",""
"MAN2B2","HGNC:29623","https://search.clinicalgenome.org/kb/genes/HGNC:29623","MAN2B2 deficiency","MONDO:0800141","https://search.clinicalgenome.org/kb/conditions/MONDO:0800141","Autosomal recessive inheritance","","","","","limited evidence (01/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccfe9ebc-087e-4cdd-bb49-9cdc1f12e3ef-2024-01-18T180000.000Z","SCID-CID","","",""
"MAN2C1","HGNC:6827","https://search.clinicalgenome.org/kb/genes/HGNC:6827","congenital disorder of deglycosylation 2","MONDO:0030770","https://search.clinicalgenome.org/kb/conditions/MONDO:0030770","Autosomal recessive inheritance","","","","","moderate evidence (11/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_45ab2f0c-af56-4fc0-8430-22d86e5bd8a3-2024-11-07T170000.000Z","Congenital Disorders of Glycosylation","","",""
"MANBA","HGNC:6831","https://search.clinicalgenome.org/kb/genes/HGNC:6831","beta-mannosidosis","MONDO:0009562","https://search.clinicalgenome.org/kb/conditions/MONDO:0009562","Autosomal recessive inheritance","","","","","definitive evidence (08/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d70d38aa-f7e9-4c93-8160-58dec9cec010-2022-08-02T160000.000Z","Lysosomal Diseases GCEP","","",""
"MAOA","HGNC:6833","https://search.clinicalgenome.org/kb/genes/HGNC:6833","Brunner syndrome","MONDO:0010379","https://search.clinicalgenome.org/kb/conditions/MONDO:0010379","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (09/26/2012)","0 - No Evidence for Triplosensitivity (09/26/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6833","Dosage Working Group","definitive evidence (04/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20ffc014-ef31-4693-91c4-424bbe1e48dd-2020-04-14T203950.820Z","Intellectual Disability and Autism","","",""
"MAP1B","HGNC:6836","https://search.clinicalgenome.org/kb/genes/HGNC:6836","periventricular nodular heterotopia","MONDO:0020341","https://search.clinicalgenome.org/kb/conditions/MONDO:0020341","Autosomal dominant inheritance","","","","","strong evidence (07/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c522c71-4e46-4c95-b3ed-1063d4880ef5-2024-07-09T190000.000Z","Brain Malformations","","",""
"MAP2K1","HGNC:6840","https://search.clinicalgenome.org/kb/genes/HGNC:6840","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/13/2015)","0 - No Evidence for Triplosensitivity (10/13/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6840","Dosage Working Group","limited evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1eafd4b1-29b1-4a17-a7ac-2c555f2e2648-2018-07-24T160000.000Z","RASopathy","","",""
"MAP2K1","HGNC:6840","https://search.clinicalgenome.org/kb/genes/HGNC:6840","Noonan syndrome with multiple lentigines","MONDO:0007893","https://search.clinicalgenome.org/kb/conditions/MONDO:0007893","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/13/2015)","0 - No Evidence for Triplosensitivity (10/13/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6840","Dosage Working Group","limited evidence (05/29/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee3071d5-ea0d-4804-ad61-3c6471f6a47e-2018-05-29T160000.000Z","RASopathy","","",""
"MAP2K1","HGNC:6840","https://search.clinicalgenome.org/kb/genes/HGNC:6840","Costello syndrome","MONDO:0009026","https://search.clinicalgenome.org/kb/conditions/MONDO:0009026","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/13/2015)","0 - No Evidence for Triplosensitivity (10/13/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6840","Dosage Working Group","disputing (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d28301c-df25-4c10-9edb-34be26f2838d-2018-07-24T160000.000Z","RASopathy","","",""
"MAP2K1","HGNC:6840","https://search.clinicalgenome.org/kb/genes/HGNC:6840","cardiofaciocutaneous syndrome","MONDO:0015280","https://search.clinicalgenome.org/kb/conditions/MONDO:0015280","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/13/2015)","0 - No Evidence for Triplosensitivity (10/13/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6840","Dosage Working Group","definitive evidence (05/29/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8c7a090-0a97-4653-bd51-702a9f9144b9-2018-05-29T160000.000Z","RASopathy","","",""
"MAP2K2","HGNC:6842","https://search.clinicalgenome.org/kb/genes/HGNC:6842","cardiofaciocutaneous syndrome","MONDO:0015280","https://search.clinicalgenome.org/kb/conditions/MONDO:0015280","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (05/27/2015)","0 - No Evidence for Triplosensitivity (05/27/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6842","Dosage Working Group","definitive evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7765e2a4-19e4-4b15-9233-4847606fc501-2018-07-24T160000.000Z","RASopathy","","",""
"MAP2K2","HGNC:6842","https://search.clinicalgenome.org/kb/genes/HGNC:6842","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (05/27/2015)","0 - No Evidence for Triplosensitivity (05/27/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6842","Dosage Working Group","limited evidence (06/01/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a0eeefd-9105-435d-9daf-c748e52b0941-2018-06-01T160000.000Z","RASopathy","","",""
"MAP3K14","HGNC:6853","https://search.clinicalgenome.org/kb/genes/HGNC:6853","NIK deficiency","MONDO:0018642","https://search.clinicalgenome.org/kb/conditions/MONDO:0018642","Autosomal recessive inheritance","","","","","moderate evidence (07/17/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3952c8fc-29f9-4c29-be1d-258bb2cd90fc-2025-07-17T160000.000Z","Primary Immune Regulatory Disorders","","",""
"MAP3K20","HGNC:17797","https://search.clinicalgenome.org/kb/genes/HGNC:17797","myopathy, centronuclear, 6, with fiber-type disproportion","MONDO:0054695","https://search.clinicalgenome.org/kb/conditions/MONDO:0054695","Autosomal recessive inheritance","","","","","strong evidence (10/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03628749-51d6-437e-9816-1e32852645cf-2024-10-28T160000.000Z","Congenital Myopathies","","",""
"MAPK8IP3","HGNC:6884","https://search.clinicalgenome.org/kb/genes/HGNC:6884","neurodevelopmental disorder with or without variable brain abnormalities; NEDBA","MONDO:0032755","https://search.clinicalgenome.org/kb/conditions/MONDO:0032755","Autosomal dominant inheritance","","","","","definitive evidence (05/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7af4bd87-1d3d-4e52-929f-c3893f81c38a-2022-05-22T063958.942Z","Syndromic Disorders","","",""
"MAPKBP1","HGNC:29536","https://search.clinicalgenome.org/kb/genes/HGNC:29536","nephronophthisis 20","MONDO:0014997","https://search.clinicalgenome.org/kb/conditions/MONDO:0014997","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/26/2025)","0 - No Evidence for Triplosensitivity (06/26/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29536","Dosage Working Group","definitive evidence (06/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8542450-d48b-45ba-bd5f-4e55d210aa6b-2024-06-10T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"MARS1","HGNC:6898","https://search.clinicalgenome.org/kb/genes/HGNC:6898","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Autosomal dominant inheritance","","","","","limited evidence (10/05/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f042c42-893b-4c98-a719-0f778a54be43-2020-10-05T160651.479Z","Charcot-Marie-Tooth","","",""
"MARS2","HGNC:25133","https://search.clinicalgenome.org/kb/genes/HGNC:25133","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (05/04/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b65af5c2-f03e-4e10-a2c4-e4524b64f1cc-2022-05-04T160000.000Z","Mitochondrial Diseases","","",""
"MARVELD2","HGNC:26401","https://search.clinicalgenome.org/kb/genes/HGNC:26401","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26401","Dosage Working Group","definitive evidence (01/05/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba6df3f7-a000-401c-94d9-0dc5cb901f32-2018-01-05T170000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MARVELD2","HGNC:26401","https://search.clinicalgenome.org/kb/genes/HGNC:26401","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26401","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MARVELD2","HGNC:26401","https://search.clinicalgenome.org/kb/genes/HGNC:26401","autosomal recessive nonsyndromic hearing loss 49","MONDO:0012420","https://search.clinicalgenome.org/kb/conditions/MONDO:0012420","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26401","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MARVELD2","HGNC:26401","https://search.clinicalgenome.org/kb/genes/HGNC:26401","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26401","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MASP2","HGNC:6902","https://search.clinicalgenome.org/kb/genes/HGNC:6902","immunodeficiency due to MASP-2 deficiency","MONDO:0013423","https://search.clinicalgenome.org/kb/conditions/MONDO:0013423","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6902","Dosage Working Group","","","","","",""
"MAST2","HGNC:19035","https://search.clinicalgenome.org/kb/genes/HGNC:19035","thrombotic disease","MONDO:0000831","https://search.clinicalgenome.org/kb/conditions/MONDO:0000831","Autosomal dominant inheritance","","","","","limited evidence (06/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0a83bd7-b175-4dbd-81e8-04e3f43c9380-2025-06-16T160000.000Z","Hemostasis Thrombosis","","",""
"MASTL","HGNC:19042","https://search.clinicalgenome.org/kb/genes/HGNC:19042","thrombocytopenia","MONDO:0002049","https://search.clinicalgenome.org/kb/conditions/MONDO:0002049","Autosomal dominant inheritance","","","","","limited evidence (03/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3516a7ea-f5b3-4df7-a348-2a127fff5a3e-2025-03-20T160000.000Z","Hemostasis Thrombosis","","",""
"MAT1A","HGNC:6903","https://search.clinicalgenome.org/kb/genes/HGNC:6903","methionine adenosyltransferase deficiency","MONDO:0009607","https://search.clinicalgenome.org/kb/conditions/MONDO:0009607","Autosomal recessive inheritance","","","","","definitive evidence (09/13/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35cff382-98fe-4103-8edc-101f0c565a9e-2019-09-13T160000.000Z","Aminoacidopathy","","",""
"MAT2A","HGNC:6904","https://search.clinicalgenome.org/kb/genes/HGNC:6904","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","","","","","limited evidence (07/03/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8263","Heritable Thoracic Aortic Aneurysm and Dissection","","",""
"MATR3","HGNC:6912","https://search.clinicalgenome.org/kb/genes/HGNC:6912","distal myopathy with vocal cord weakness","MONDO:0018951","https://search.clinicalgenome.org/kb/conditions/MONDO:0018951","Autosomal dominant inheritance","","","","","definitive evidence (10/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_97ed1e35-c1b2-40c7-a60e-54b3c24004c4-2024-10-08T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"MAX","HGNC:6913","https://search.clinicalgenome.org/kb/genes/HGNC:6913","hereditary pheochromocytoma-paraganglioma","MONDO:0017366","https://search.clinicalgenome.org/kb/conditions/MONDO:0017366","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/20/2021)","0 - No Evidence for Triplosensitivity (07/20/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6913","Dosage Working Group","definitive evidence (06/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3ae9a06-6429-4b4b-b008-e1454511d5be-2021-06-16T144632.357Z","Hereditary Cancer","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"MAX","HGNC:6913","https://search.clinicalgenome.org/kb/genes/HGNC:6913","pheochromocytoma","MONDO:0008233","https://search.clinicalgenome.org/kb/conditions/MONDO:0008233","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/20/2021)","0 - No Evidence for Triplosensitivity (07/20/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6913","Dosage Working Group","","","","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"MBD4","HGNC:6919","https://search.clinicalgenome.org/kb/genes/HGNC:6919","tumor predisposition syndrome 2","MONDO:0859267","https://search.clinicalgenome.org/kb/conditions/MONDO:0859267","Autosomal recessive inheritance","","","","","moderate evidence (07/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bbd430ad-bb2c-46cc-b16c-5013594d84e8-2024-07-09T160000.000Z","Childhood, Adolescent and Young Adult Cancer Predisposition","","",""
"MBD5","HGNC:20444","https://search.clinicalgenome.org/kb/genes/HGNC:20444","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/29/2025)","0 - No Evidence for Triplosensitivity (08/29/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20444","Dosage Working Group","definitive evidence (02/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_952cb4f8-e59b-4edb-a393-0266e0008963-2023-02-15T170000.000Z","Intellectual Disability and Autism","","",""
"MBOAT7","HGNC:15505","https://search.clinicalgenome.org/kb/genes/HGNC:15505","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal recessive inheritance","","","","","definitive evidence (11/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea008bc0-1c4f-459c-adb9-0e646b50c340-2023-11-21T170000.000Z","Intellectual Disability and Autism","","",""
"MBTPS1","HGNC:15456","https://search.clinicalgenome.org/kb/genes/HGNC:15456","spondyloepiphyseal dysplasia, kondo-fu type","MONDO:0032721","https://search.clinicalgenome.org/kb/conditions/MONDO:0032721","Autosomal recessive inheritance","","","","","definitive evidence (05/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bcb2ba1-90ff-48b3-860b-a658c0e9abed-2024-05-07T160000.000Z","Lysosomal Diseases GCEP","","",""
"MBTPS2","HGNC:15455","https://search.clinicalgenome.org/kb/genes/HGNC:15455","IFAP syndrome 1, with or without BRESHECK syndrome","MONDO:0100213","https://search.clinicalgenome.org/kb/conditions/MONDO:0100213","X-linked inheritance","","","","","definitive evidence (05/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13a8a124-1071-4150-b6ea-0165cbf41c2d-2021-05-17T145233.620Z","Intellectual Disability and Autism","","",""
"MC2R","HGNC:6930","https://search.clinicalgenome.org/kb/genes/HGNC:6930","glucocorticoid deficiency 1","MONDO:0024536","https://search.clinicalgenome.org/kb/conditions/MONDO:0024536","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6930","Dosage Working Group","","","","","",""
"MCAT","HGNC:29622","https://search.clinicalgenome.org/kb/genes/HGNC:29622","optic atrophy 15","MONDO:0957935","https://search.clinicalgenome.org/kb/conditions/MONDO:0957935","Autosomal recessive inheritance","","","","","limited evidence (05/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_427c818a-1705-4013-a5ba-d977540535d5-2024-05-16T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"MCCC1","HGNC:6936","https://search.clinicalgenome.org/kb/genes/HGNC:6936","3-methylcrotonyl-CoA carboxylase deficiency","MONDO:0018950","https://search.clinicalgenome.org/kb/conditions/MONDO:0018950","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6936","Dosage Working Group","definitive evidence (10/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bd0c545-9ef8-4005-a124-a73be6178745-2019-10-25T160000.000Z","Aminoacidopathy","","",""
"MCCC1","HGNC:6936","https://search.clinicalgenome.org/kb/genes/HGNC:6936","3-methylcrotonyl-CoA carboxylase 1 deficiency","MONDO:0008861","https://search.clinicalgenome.org/kb/conditions/MONDO:0008861","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6936","Dosage Working Group","","","","","",""
"MCCC2","HGNC:6937","https://search.clinicalgenome.org/kb/genes/HGNC:6937","3-methylcrotonyl-CoA carboxylase deficiency","MONDO:0018950","https://search.clinicalgenome.org/kb/conditions/MONDO:0018950","Autosomal recessive inheritance","","","","","definitive evidence (10/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3653ea30-b630-499a-a6f0-65152106ad8c-2019-10-25T160000.000Z","Aminoacidopathy","","",""
"MCEE","HGNC:16732","https://search.clinicalgenome.org/kb/genes/HGNC:16732","methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency","MONDO:0009615","https://search.clinicalgenome.org/kb/conditions/MONDO:0009615","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/25/2015)","0 - No Evidence for Triplosensitivity (03/25/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16732","Dosage Working Group","definitive evidence (07/09/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8546531-fe3d-48fd-8103-f5f84fd04514-2020-07-09T160000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (05/13/2014) | Assertion Pending (06/26/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC122 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC122"," | "
"MCFD2","HGNC:18451","https://search.clinicalgenome.org/kb/genes/HGNC:18451","factor 5 and Factor VIII, combined deficiency of, 2","MONDO:0013331","https://search.clinicalgenome.org/kb/conditions/MONDO:0013331","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18451","Dosage Working Group","definitive evidence (06/24/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afa4ae2a-c40d-4f25-affe-852a67144cdd-2020-06-24T160000.000Z","Hemostasis Thrombosis","","",""
"MCIDAS","HGNC:40050","https://search.clinicalgenome.org/kb/genes/HGNC:40050","ciliary dyskinesia, primary, 42","MONDO:0032872","https://search.clinicalgenome.org/kb/conditions/MONDO:0032872","Autosomal recessive inheritance","","","","","definitive evidence (12/29/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_866c87d2-9c7d-4f5e-bd7f-358d8e44fa54-2022-12-29T200000.000Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"MCM10","HGNC:18043","https://search.clinicalgenome.org/kb/genes/HGNC:18043","immunodeficiency 80 with or without congenital cardiomyopathy","MONDO:0030266","https://search.clinicalgenome.org/kb/conditions/MONDO:0030266","Autosomal recessive inheritance","","","","","moderate evidence (06/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4b68b9e6-cc1a-44ee-8860-319bc131e948-2024-06-20T170000.000Z","SCID-CID","","",""
"MCM2","HGNC:6944","https://search.clinicalgenome.org/kb/genes/HGNC:6944","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","limited evidence (04/21/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29172723-c896-4cbf-a20b-9921fc72547f-2020-04-21T190000.000Z","Hearing Loss","","",""
"MCM3AP","HGNC:6946","https://search.clinicalgenome.org/kb/genes/HGNC:6946","peripheral neuropathy, autosomal recessive, with or without impaired intellectual development","MONDO:0029131","https://search.clinicalgenome.org/kb/conditions/MONDO:0029131","Autosomal recessive inheritance","","","","","definitive evidence (05/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_24bcbb92-9401-4659-beea-022646ee8930-2023-05-05T160000.000Z","Charcot-Marie-Tooth","","",""
"MCM4","HGNC:6947","https://search.clinicalgenome.org/kb/genes/HGNC:6947","primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency","MONDO:0012383","https://search.clinicalgenome.org/kb/conditions/MONDO:0012383","Autosomal recessive inheritance","","","","","moderate evidence (08/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9386eb47-5424-4f27-94d5-0d6709a6587e-2023-08-17T170000.000Z","SCID-CID","","",""
"MCOLN1","HGNC:13356","https://search.clinicalgenome.org/kb/genes/HGNC:13356","mucolipidosis type IV","MONDO:0009653","https://search.clinicalgenome.org/kb/conditions/MONDO:0009653","Autosomal recessive inheritance","","","","","definitive evidence (09/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_baf3301d-214e-46b5-8053-5217b52fe6c2-2022-09-14T160000.000Z","Lysosomal Diseases GCEP","","",""
"MCPH1","HGNC:6954","https://search.clinicalgenome.org/kb/genes/HGNC:6954","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6954","Dosage Working Group","limited evidence (01/11/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8524","Breast/Ovarian Cancer","","",""
"MCPH1","HGNC:6954","https://search.clinicalgenome.org/kb/genes/HGNC:6954","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6954","Dosage Working Group","no known disease relationship (01/11/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8525","Breast/Ovarian Cancer","","",""
"MCPH1","HGNC:6954","https://search.clinicalgenome.org/kb/genes/HGNC:6954","microcephaly with intellectual disability","MONDO:0100200","https://search.clinicalgenome.org/kb/conditions/MONDO:0100200","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6954","Dosage Working Group","definitive evidence (01/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c193837-0c45-4363-8953-a49f08e242a0-2023-01-17T070000.000Z","Intellectual Disability and Autism","","",""
"MCPH1","HGNC:6954","https://search.clinicalgenome.org/kb/genes/HGNC:6954","microcephaly 1, primary, autosomal recessive","MONDO:0009617","https://search.clinicalgenome.org/kb/conditions/MONDO:0009617","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6954","Dosage Working Group","","","","","",""
"MDM4","HGNC:6974","https://search.clinicalgenome.org/kb/genes/HGNC:6974","bone marrow failure syndrome 6","MONDO:0030015","https://search.clinicalgenome.org/kb/conditions/MONDO:0030015","Autosomal dominant inheritance","","","","","moderate evidence (12/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c4e0701-22d0-4e73-bf76-a23e9472fe3d-2024-12-10T170000.000Z","Childhood, Adolescent and Young Adult Cancer Predisposition","","",""
"MECOM","HGNC:3498","https://search.clinicalgenome.org/kb/genes/HGNC:3498","MECOM-associated syndrome","MONDO:0100458","https://search.clinicalgenome.org/kb/conditions/MONDO:0100458","Autosomal dominant inheritance","","","","","definitive evidence (11/08/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1d25a48-f664-49c6-8ea4-dfddd0651209-2021-11-08T170000.000Z","Hemostasis Thrombosis","","",""
"MECP2","HGNC:6990","https://search.clinicalgenome.org/kb/genes/HGNC:6990","Rett syndrome","MONDO:0010726","https://search.clinicalgenome.org/kb/conditions/MONDO:0010726","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/22/2021)","0 - No Evidence for Triplosensitivity (02/22/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6990","Dosage Working Group","definitive evidence (05/02/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2df006ff-5ab4-4926-9b72-48909b09e608-2018-05-02T132629.570Z","Rett and Angelman-like Disorders","","",""
"MECP2","HGNC:6990","https://search.clinicalgenome.org/kb/genes/HGNC:6990","syndromic X-linked intellectual disability Lubs type","MONDO:0010283","https://search.clinicalgenome.org/kb/conditions/MONDO:0010283","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/22/2021)","0 - No Evidence for Triplosensitivity (02/22/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6990","Dosage Working Group","","","","","",""
"MECR","HGNC:19691","https://search.clinicalgenome.org/kb/genes/HGNC:19691","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (06/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_75fcef99-f3fe-43b3-a544-a91f04ed1285-2021-06-14T142534.349Z","Mitochondrial Diseases","","",""
"MED12","HGNC:11957","https://search.clinicalgenome.org/kb/genes/HGNC:11957","MED12-related intellectual disability syndrome","MONDO:0100000","https://search.clinicalgenome.org/kb/conditions/MONDO:0100000","X-linked inheritance","0 - No Evidence for Haploinsufficiency (08/22/2018)","0 - No Evidence for Triplosensitivity (08/22/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11957","Dosage Working Group","definitive evidence (10/15/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afba0573-9f47-4814-bf3a-ef41f5512dee-2025-10-15T100000.000Z","Intellectual Disability and Autism","","",""
"MED12L","HGNC:16050","https://search.clinicalgenome.org/kb/genes/HGNC:16050","Nizon-Isidor syndrome","MONDO:0030030","https://search.clinicalgenome.org/kb/conditions/MONDO:0030030","Autosomal dominant inheritance","","","","","definitive evidence (11/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0bf24e7c-640f-4e2b-9d6b-9517f015cfaa-2024-11-19T170000.000Z","Syndromic Disorders","","",""
"MED13","HGNC:22474","https://search.clinicalgenome.org/kb/genes/HGNC:22474","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (05/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e82f63b1-ed0f-4dd0-8168-3aa4e0a4c2a9-2022-05-17T180000.000Z","Intellectual Disability and Autism","","",""
"MED13L","HGNC:22962","https://search.clinicalgenome.org/kb/genes/HGNC:22962","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/08/2023)","0 - No Evidence for Triplosensitivity (08/08/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:22962","Dosage Working Group","definitive evidence (04/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41758f8d-1f99-47fa-beb6-c327fa6cb940-2021-04-21T040000.000Z","Intellectual Disability and Autism","","",""
"MED13L","HGNC:22962","https://search.clinicalgenome.org/kb/genes/HGNC:22962","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/08/2023)","0 - No Evidence for Triplosensitivity (08/08/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:22962","Dosage Working Group","limited evidence (02/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9479ebdd-98ef-48d1-8026-03360c19c23f-2024-02-12T190000.000Z","Congenital Heart Disease","","",""
"MED23","HGNC:2372","https://search.clinicalgenome.org/kb/genes/HGNC:2372","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal recessive inheritance","","","","","moderate evidence (04/01/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e8c75f0-39ae-4967-b95d-a92c55739876-2020-04-01T160000.000Z","Intellectual Disability and Autism","","",""
"MED25","HGNC:28845","https://search.clinicalgenome.org/kb/genes/HGNC:28845","Charcot-Marie-Tooth disease type 2B2","MONDO:0011570","https://search.clinicalgenome.org/kb/conditions/MONDO:0011570","Autosomal recessive inheritance","","","","","disputing (03/22/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0e0d66f-c68d-4df3-bab2-71afc448e4b0-2021-03-22T201527.084Z","Charcot-Marie-Tooth","","",""
"MED27","HGNC:2377","https://search.clinicalgenome.org/kb/genes/HGNC:2377","neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia","MONDO:0859137","https://search.clinicalgenome.org/kb/conditions/MONDO:0859137","Autosomal recessive inheritance","","","","","strong evidence (12/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58234a0f-9c8b-432f-9397-815ccfae66fc-2023-12-15T170000.000Z","Syndromic Disorders","","",""
"MEF2C","HGNC:6996","https://search.clinicalgenome.org/kb/genes/HGNC:6996","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/26/2020)","1 - Little Evidence for Triplosensitivity (02/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6996","Dosage Working Group","definitive evidence (02/06/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34354e8f-4343-4fba-82ba-e49579e504bb-2019-02-06T170000.000Z","Intellectual Disability and Autism","","",""
"MEF2C","HGNC:6996","https://search.clinicalgenome.org/kb/genes/HGNC:6996","neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language","MONDO:0013266","https://search.clinicalgenome.org/kb/conditions/MONDO:0013266","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/26/2020)","1 - Little Evidence for Triplosensitivity (02/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6996","Dosage Working Group","","","","","",""
"MEFV","HGNC:6998","https://search.clinicalgenome.org/kb/genes/HGNC:6998","familial Mediterranean fever","MONDO:0018088","https://search.clinicalgenome.org/kb/conditions/MONDO:0018088","Semidominant inheritance","0 - No Evidence for Haploinsufficiency (08/16/2018)","0 - No Evidence for Triplosensitivity (08/16/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6998","Dosage Working Group","definitive evidence (02/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d811d62e-7063-481a-922e-a3d1eb884971-2022-02-23T170000.000Z","General Gene Curation","","",""
"MEFV","HGNC:6998","https://search.clinicalgenome.org/kb/genes/HGNC:6998","autosomal recessive familial Mediterranean fever","MONDO:0009572","https://search.clinicalgenome.org/kb/conditions/MONDO:0009572","N/A","0 - No Evidence for Haploinsufficiency (08/16/2018)","0 - No Evidence for Triplosensitivity (08/16/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6998","Dosage Working Group","","","","Assertion Pending (05/23/2016)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC101",""
"MEFV","HGNC:6998","https://search.clinicalgenome.org/kb/genes/HGNC:6998","familial Mediterranean fever, autosomal dominant","MONDO:0007601","https://search.clinicalgenome.org/kb/conditions/MONDO:0007601","N/A","0 - No Evidence for Haploinsufficiency (08/16/2018)","0 - No Evidence for Triplosensitivity (08/16/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6998","Dosage Working Group","","","","Assertion Pending (05/23/2016)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC102",""
"MEG3","HGNC:14575","https://search.clinicalgenome.org/kb/genes/HGNC:14575","multiple congenital anomalies due to 14q32.2 maternally expressed gene defect","MONDO:0016779","https://search.clinicalgenome.org/kb/conditions/MONDO:0016779","N/A","1 - Little Evidence for Haploinsufficiency (09/12/2024)","0 - No Evidence for Triplosensitivity (09/12/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14575","Dosage Working Group","","","","","",""
"MEGF10","HGNC:29634","https://search.clinicalgenome.org/kb/genes/HGNC:29634","MEGF10-related myopathy","MONDO:0013731","https://search.clinicalgenome.org/kb/conditions/MONDO:0013731","Autosomal recessive inheritance","","","","","definitive evidence (01/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d00193c-b0fd-40b4-b5d5-51eecece9669-2020-01-27T170000.000Z","Congenital Myopathies","","",""
"MEGF8","HGNC:3233","https://search.clinicalgenome.org/kb/genes/HGNC:3233","MEGF8-related Carpenter syndrome","MONDO:0013998","https://search.clinicalgenome.org/kb/conditions/MONDO:0013998","Autosomal recessive inheritance","","","","","moderate evidence (12/23/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd9400f1-2c0b-4ffd-989a-486b81779a53-2021-12-23T193047.075Z","Craniofacial Malformations","","",""
"MEIS2","HGNC:7001","https://search.clinicalgenome.org/kb/genes/HGNC:7001","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/14/2021)","0 - No Evidence for Triplosensitivity (09/14/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7001","Dosage Working Group","definitive evidence (04/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe156246-6e64-4096-a4c5-a83a3e70dbb9-2022-04-22T060000.000Z","Intellectual Disability and Autism","","",""
"MEN1","HGNC:7010","https://search.clinicalgenome.org/kb/genes/HGNC:7010","multiple endocrine neoplasia type 1","MONDO:0007540","https://search.clinicalgenome.org/kb/conditions/MONDO:0007540","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/12/2022)","0 - No Evidence for Triplosensitivity (01/12/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7010","Dosage Working Group","definitive evidence (05/13/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a40ef20e-115c-4667-b4a2-6c7c8fb07a49-2020-05-13T170000.000Z","Hereditary Cancer","Strong Actionability (01/15/2019) | Strong Actionability (01/15/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC077 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC077"," | "
"MERTK","HGNC:7027","https://search.clinicalgenome.org/kb/genes/HGNC:7027","MERTK-related retinopathy","MONDO:0800394","https://search.clinicalgenome.org/kb/conditions/MONDO:0800394","Autosomal recessive inheritance","","","","","definitive evidence (07/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b09e0755-aae3-47ef-b438-802285d5963b-2022-07-07T160000.000Z","Retina","","",""
"MESP1","HGNC:29658","https://search.clinicalgenome.org/kb/genes/HGNC:29658","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","moderate evidence (09/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e86e873-749f-4d44-a1c8-d28405d7dace-2024-09-09T160000.000Z","Congenital Heart Disease","","",""
"MET","HGNC:7029","https://search.clinicalgenome.org/kb/genes/HGNC:7029","papillary renal cell carcinoma","MONDO:0017884","https://search.clinicalgenome.org/kb/conditions/MONDO:0017884","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/06/2012)","0 - No Evidence for Triplosensitivity (09/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7029","Dosage Working Group","definitive evidence (10/11/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a71d9990-7202-487a-b7a3-4e659e0be73c-2018-10-11T184745.818Z","Hereditary Cancer","Assertion Pending (10/17/2016) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/02/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC091 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC091"," | "
"MET","HGNC:7029","https://search.clinicalgenome.org/kb/genes/HGNC:7029","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (09/06/2012)","0 - No Evidence for Triplosensitivity (09/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7029","Dosage Working Group","limited evidence (03/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0e6f9ac-f807-48fd-a5b6-bf67c4607e14-2021-03-26T160000.000Z","Hearing Loss","","",""
"MET","HGNC:7029","https://search.clinicalgenome.org/kb/genes/HGNC:7029","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/06/2012)","0 - No Evidence for Triplosensitivity (09/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7029","Dosage Working Group","disputing (01/19/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d55c61af-ef8e-475d-9ff7-454496cb6462-2021-01-19T170000.000Z","Intellectual Disability and Autism","","",""
"MET","HGNC:7029","https://search.clinicalgenome.org/kb/genes/HGNC:7029","hereditary papillary renal cell carcinoma","MONDO:0003789","https://search.clinicalgenome.org/kb/conditions/MONDO:0003789","N/A","0 - No Evidence for Haploinsufficiency (09/06/2012)","0 - No Evidence for Triplosensitivity (09/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7029","Dosage Working Group","","","","Assertion Pending (10/17/2016) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/02/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC091 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC091"," | "
"METTL23","HGNC:26988","https://search.clinicalgenome.org/kb/genes/HGNC:26988","intellectual disability, autosomal recessive 44","MONDO:0014409","https://search.clinicalgenome.org/kb/conditions/MONDO:0014409","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26988","Dosage Working Group","","","","","",""
"MFAP5","HGNC:29673","https://search.clinicalgenome.org/kb/genes/HGNC:29673","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","","","","","moderate evidence (12/22/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8264","Heritable Thoracic Aortic Aneurysm and Dissection","","",""
"MFF","HGNC:24858","https://search.clinicalgenome.org/kb/genes/HGNC:24858","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (04/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4484881f-277f-47a2-b1dd-70072ec941e0-2021-04-09T141836.756Z","Mitochondrial Diseases","","",""
"MFF","HGNC:24858","https://search.clinicalgenome.org/kb/genes/HGNC:24858","encephalopathy due to mitochondrial and peroxisomal fission defect","MONDO:0054865","https://search.clinicalgenome.org/kb/conditions/MONDO:0054865","Autosomal recessive inheritance","","","","","moderate evidence (06/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_021d15d7-dbf0-4b71-bbb5-48dc4a4b5ee6-2024-06-21T160000.000Z","Peroxisomal Disorders","","",""
"MFN2","HGNC:16877","https://search.clinicalgenome.org/kb/genes/HGNC:16877","obsolete axonal hereditary motor and sensory neuropathy","MONDO:0018775","https://search.clinicalgenome.org/kb/conditions/MONDO:0018775","Semidominant inheritance","0 - No Evidence for Haploinsufficiency (02/02/2017)","0 - No Evidence for Triplosensitivity (02/02/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16877","Dosage Working Group","definitive evidence (10/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a04350b3-5fe9-438a-9e90-db0055ed15e7-2022-10-10T160000.000Z","Charcot-Marie-Tooth","","",""
"MFN2","HGNC:16877","https://search.clinicalgenome.org/kb/genes/HGNC:16877","multiple symmetric lipomatosis with partial lipodystrophy","MONDO:1060153","https://search.clinicalgenome.org/kb/conditions/MONDO:1060153","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (02/02/2017)","0 - No Evidence for Triplosensitivity (02/02/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16877","Dosage Working Group","definitive evidence (09/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9322bddb-bcdb-466b-acae-058f4a368e01-2025-09-10T160000.000Z","Monogenic Diabetes","","",""
"MFRP","HGNC:18121","https://search.clinicalgenome.org/kb/genes/HGNC:18121","isolated microphthalmia 5","MONDO:0012605","https://search.clinicalgenome.org/kb/conditions/MONDO:0012605","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18121","Dosage Working Group","","","","","",""
"MFSD8","HGNC:28486","https://search.clinicalgenome.org/kb/genes/HGNC:28486","neuronal ceroid lipofuscinosis","MONDO:0016295","https://search.clinicalgenome.org/kb/conditions/MONDO:0016295","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28486","Dosage Working Group","definitive evidence (12/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f42cb66-5f28-4674-8f5a-76e15880bbfc-2020-12-15T170000.000Z","Epilepsy","","",""
"MFSD8","HGNC:28486","https://search.clinicalgenome.org/kb/genes/HGNC:28486","neuronal ceroid lipofuscinosis 7","MONDO:0012588","https://search.clinicalgenome.org/kb/conditions/MONDO:0012588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28486","Dosage Working Group","","","","","",""
"MGAT2","HGNC:7045","https://search.clinicalgenome.org/kb/genes/HGNC:7045","MGAT2-congenital disorder of glycosylation","MONDO:0008908","https://search.clinicalgenome.org/kb/conditions/MONDO:0008908","Autosomal recessive inheritance","","","","","moderate evidence (11/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1ff0e4d-0a54-48f3-855f-2bdb36d118db-2024-11-07T060000.000Z","Congenital Disorders of Glycosylation","","",""
"MGME1","HGNC:16205","https://search.clinicalgenome.org/kb/genes/HGNC:16205","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (08/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15cc7c6b-dcdc-4289-a1c2-b4fad44c2f82-2023-08-07T040000.000Z","Mitochondrial Diseases","","",""
"MGP","HGNC:7060","https://search.clinicalgenome.org/kb/genes/HGNC:7060","Keutel syndrome","MONDO:0009495","https://search.clinicalgenome.org/kb/conditions/MONDO:0009495","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/08/2021)","0 - No Evidence for Triplosensitivity (02/08/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7060","Dosage Working Group","definitive evidence (05/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73a2971a-209d-4696-8459-3d8f3d0e2aa2-2025-05-16T160000.000Z","Syndromic Disorders","","",""
"MIB1","HGNC:21086","https://search.clinicalgenome.org/kb/genes/HGNC:21086","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","limited evidence (10/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d97cecce-b9a7-42fb-bc2d-034468094949-2024-10-04T160000.000Z","Dilated Cardiomyopathy","","",""
"MICOS13","HGNC:33702","https://search.clinicalgenome.org/kb/genes/HGNC:33702","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (08/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b19a224-a6a5-4056-b69d-2d3090b8a9e6-2023-08-07T040000.000Z","Mitochondrial Diseases","","",""
"MICU1","HGNC:1530","https://search.clinicalgenome.org/kb/genes/HGNC:1530","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (11/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c9276ee-39e6-408f-9ae0-a4c3000f3089-2023-11-20T050000.000Z","Mitochondrial Diseases","","",""
"MICU2","HGNC:31830","https://search.clinicalgenome.org/kb/genes/HGNC:31830","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","limited evidence (10/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c0069ac-5c56-41c3-a008-f494802e7579-2023-10-19T160000.000Z","Mitochondrial Diseases","","",""
"MID1","HGNC:7095","https://search.clinicalgenome.org/kb/genes/HGNC:7095","X-linked Opitz G/BBB syndrome","MONDO:0010222","https://search.clinicalgenome.org/kb/conditions/MONDO:0010222","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/23/2021)","0 - No Evidence for Triplosensitivity (08/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7095","Dosage Working Group","definitive evidence (03/20/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2471967-d6b3-4ffb-a9fd-e3dbd089cb20-2018-03-20T230000.000Z","Intellectual Disability and Autism","","",""
"MIPEP","HGNC:7104","https://search.clinicalgenome.org/kb/genes/HGNC:7104","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (02/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c3a57a6-2bdb-420d-80fc-58a65a7863fb-2023-02-06T050000.000Z","Mitochondrial Diseases","","",""
"MIR96","HGNC:31648","https://search.clinicalgenome.org/kb/genes/HGNC:31648","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","moderate evidence (09/26/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01d1a7f4-8421-4be3-8fe7-2c2025f03ac9-2023-09-26T160000.000Z","Hearing Loss","","",""
"MITF","HGNC:7105","https://search.clinicalgenome.org/kb/genes/HGNC:7105","Waardenburg syndrome type 2","MONDO:0019517","https://search.clinicalgenome.org/kb/conditions/MONDO:0019517","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/13/2021)","0 - No Evidence for Triplosensitivity (04/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7105","Dosage Working Group","definitive evidence (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc5d40d2-44b5-49b6-97a9-7bdfc39bee49-2017-11-21T170000.000Z","Hearing Loss","","",""
"MITF","HGNC:7105","https://search.clinicalgenome.org/kb/genes/HGNC:7105","Waardenburg syndrome type 2A","MONDO:0008671","https://search.clinicalgenome.org/kb/conditions/MONDO:0008671","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/13/2021)","0 - No Evidence for Triplosensitivity (04/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7105","Dosage Working Group","","","","","",""
"MKKS","HGNC:7108","https://search.clinicalgenome.org/kb/genes/HGNC:7108","MKKS-related ciliopathy","MONDO:1040050","https://search.clinicalgenome.org/kb/conditions/MONDO:1040050","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7108","Dosage Working Group","definitive evidence (05/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c054871f-bcf0-48c1-a252-5c02d05adc97-2024-05-02T160000.000Z","Retina","","",""
"MKKS","HGNC:7108","https://search.clinicalgenome.org/kb/genes/HGNC:7108","Bardet-Biedl syndrome","MONDO:0015229","https://search.clinicalgenome.org/kb/conditions/MONDO:0015229","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7108","Dosage Working Group","","","","","",""
"MKS1","HGNC:7121","https://search.clinicalgenome.org/kb/genes/HGNC:7121","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7121","Dosage Working Group","definitive evidence (09/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f74f998-7aa7-4a8f-9046-ebb219c95fd7-2024-09-05T040000.000Z","Retina","","",""
"MLC1","HGNC:17082","https://search.clinicalgenome.org/kb/genes/HGNC:17082","megalencephalic leukoencephalopathy with subcortical cysts 1","MONDO:0024555","https://search.clinicalgenome.org/kb/conditions/MONDO:0024555","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17082","Dosage Working Group","definitive evidence (11/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf223498-7297-4fe5-8476-95cb8ff3145d-2024-11-25T080000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"MLH1","HGNC:7127","https://search.clinicalgenome.org/kb/genes/HGNC:7127","mismatch repair cancer syndrome 1","MONDO:0010159","https://search.clinicalgenome.org/kb/conditions/MONDO:0010159","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7127","Dosage Working Group","definitive evidence (10/09/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a313ad2e-5c2a-4bb4-bed4-3b4f9b5095df-2018-10-09T150623.105Z","Hereditary Cancer","Moderate Actionability (08/24/2022) | Strong Actionability (08/24/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1055 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1055"," | "
"MLH1","HGNC:7127","https://search.clinicalgenome.org/kb/genes/HGNC:7127","Lynch syndrome","MONDO:0005835","https://search.clinicalgenome.org/kb/conditions/MONDO:0005835","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7127","Dosage Working Group","definitive evidence (06/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_24c5d3f4-2bb6-4beb-a781-52bd6962ca41-2022-06-20T170000.000Z","Hereditary Cancer","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021) | Definitive Actionability (02/11/2015)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC069 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC069"," | "
"MLH1","HGNC:7127","https://search.clinicalgenome.org/kb/genes/HGNC:7127","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7127","Dosage Working Group","refuting evidence (12/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c27a22e4-fc45-4888-8b1d-625bc649697c-2023-12-21T180000.000Z","Hereditary Cancer","","",""
"MLH1","HGNC:7127","https://search.clinicalgenome.org/kb/genes/HGNC:7127","Lynch syndrome 2","MONDO:0012249","https://search.clinicalgenome.org/kb/conditions/MONDO:0012249","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7127","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021) | Definitive Actionability (02/11/2015)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC069 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC069"," | "
"MLH1","HGNC:7127","https://search.clinicalgenome.org/kb/genes/HGNC:7127","mismatch repair cancer syndrome","MONDO:0031219","https://search.clinicalgenome.org/kb/conditions/MONDO:0031219","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7127","Dosage Working Group","","","","Moderate Actionability (08/24/2022) | Strong Actionability (08/24/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1055 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1055"," | "
"MLH3","HGNC:7128","https://search.clinicalgenome.org/kb/genes/HGNC:7128","colorectal cancer, hereditary nonpolyposis, type 7","MONDO:0013725","https://search.clinicalgenome.org/kb/conditions/MONDO:0013725","Autosomal dominant inheritance","","","","","limited evidence (11/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4fa28f74-c7c8-40f3-908f-63b74bea9d94-2024-11-04T180000.000Z","Hereditary Cancer","","",""
"MLH3","HGNC:7128","https://search.clinicalgenome.org/kb/genes/HGNC:7128","intestinal polyposis syndrome","MONDO:0015185","https://search.clinicalgenome.org/kb/conditions/MONDO:0015185","Autosomal recessive inheritance","","","","","limited evidence (11/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d54ad37-37e4-4321-a4b7-df423bde0943-2024-11-04T180000.000Z","Hereditary Cancer","","",""
"MLPH","HGNC:29643","https://search.clinicalgenome.org/kb/genes/HGNC:29643","Griscelli syndrome type 3","MONDO:0012220","https://search.clinicalgenome.org/kb/conditions/MONDO:0012220","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29643","Dosage Working Group","","","","","",""
"MLYCD","HGNC:7150","https://search.clinicalgenome.org/kb/genes/HGNC:7150","malonic aciduria","MONDO:0009556","https://search.clinicalgenome.org/kb/conditions/MONDO:0009556","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7150","Dosage Working Group","definitive evidence (06/26/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70af8ffa-430b-4c69-bfa9-d6ba2f7b4f32-2018-06-26T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"MMAA","HGNC:18871","https://search.clinicalgenome.org/kb/genes/HGNC:18871","methylmalonic aciduria, cblA type","MONDO:0009613","https://search.clinicalgenome.org/kb/conditions/MONDO:0009613","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18871","Dosage Working Group","definitive evidence (07/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b81bb9e-5f71-47bf-b187-5eef83d91d57-2022-07-13T160000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (05/13/2014) | Assertion Pending (06/26/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC122 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC122"," | "
"MMAB","HGNC:19331","https://search.clinicalgenome.org/kb/genes/HGNC:19331","methylmalonic aciduria, cblB type","MONDO:0009614","https://search.clinicalgenome.org/kb/conditions/MONDO:0009614","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/30/2017)","0 - No Evidence for Triplosensitivity (06/30/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19331","Dosage Working Group","definitive evidence (07/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52b61ff5-afba-4ff7-adbc-51de6a837db7-2022-07-13T160000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (05/13/2014) | Assertion Pending (06/26/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC122 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC122"," | "
"MMACHC","HGNC:24525","https://search.clinicalgenome.org/kb/genes/HGNC:24525","methylmalonic aciduria and homocystinuria type cblC","MONDO:0010184","https://search.clinicalgenome.org/kb/conditions/MONDO:0010184","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24525","Dosage Working Group","definitive evidence (06/29/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6feb4bda-539f-4592-acaf-26dc186e953a-2020-06-29T174303.503Z","Aminoacidopathy","","",""
"MMADHC","HGNC:25221","https://search.clinicalgenome.org/kb/genes/HGNC:25221","inborn disorder of cobalamin metabolism and transport","MONDO:0019220","https://search.clinicalgenome.org/kb/conditions/MONDO:0019220","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (07/21/2016)","0 - No Evidence for Triplosensitivity (07/21/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25221","Dosage Working Group","definitive evidence (05/12/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40ec59af-a143-4424-9218-7fd75deb6a61-2021-05-12T182739.747Z","Aminoacidopathy","","",""
"MMADHC","HGNC:25221","https://search.clinicalgenome.org/kb/genes/HGNC:25221","methylmalonic aciduria and homocystinuria type cblD","MONDO:0010185","https://search.clinicalgenome.org/kb/conditions/MONDO:0010185","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (07/21/2016)","0 - No Evidence for Triplosensitivity (07/21/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25221","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (05/13/2014) | Assertion Pending (06/26/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC122 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC122"," | "
"MME","HGNC:7154","https://search.clinicalgenome.org/kb/genes/HGNC:7154","Charcot-Marie-Tooth disease axonal type 2T","MONDO:0014866","https://search.clinicalgenome.org/kb/conditions/MONDO:0014866","Autosomal recessive inheritance","","","","","definitive evidence (08/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d426d95-70b5-4537-809f-9f2520fc39e9-2022-08-03T160000.000Z","Charcot-Marie-Tooth","","",""
"MMUT","HGNC:7526","https://search.clinicalgenome.org/kb/genes/HGNC:7526","methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency","MONDO:0009612","https://search.clinicalgenome.org/kb/conditions/MONDO:0009612","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/25/2016)","0 - No Evidence for Triplosensitivity (08/25/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7526","Dosage Working Group","definitive evidence (05/09/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c5301da-0dad-417a-8257-5b1c6155e8fa-2019-05-09T160000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (05/13/2014) | Assertion Pending (06/26/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC122 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC122"," | "
"MNS1","HGNC:29636","https://search.clinicalgenome.org/kb/genes/HGNC:29636","primary ciliary dyskinesia","MONDO:0016575","https://search.clinicalgenome.org/kb/conditions/MONDO:0016575","Autosomal recessive inheritance","","","","","disputing (09/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_255ba802-ece2-43c7-9089-6e54672b4f4a-2022-09-13T170000.000Z","Motile Ciliopathy GCEP","","",""
"MNX1","HGNC:4979","https://search.clinicalgenome.org/kb/genes/HGNC:4979","Currarino triad","MONDO:0008305","https://search.clinicalgenome.org/kb/conditions/MONDO:0008305","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/04/2012)","0 - No Evidence for Triplosensitivity (10/04/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4979","Dosage Working Group","","","","","",""
"MOCOS","HGNC:18234","https://search.clinicalgenome.org/kb/genes/HGNC:18234","xanthinuria type II","MONDO:0011346","https://search.clinicalgenome.org/kb/conditions/MONDO:0011346","Autosomal recessive inheritance","","","","","definitive evidence (08/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04a1363e-0d51-4797-9358-0e48e362ea5f-2022-08-12T160000.000Z","General Inborn Errors of Metabolism","","",""
"MOCS1","HGNC:7190","https://search.clinicalgenome.org/kb/genes/HGNC:7190","sulfite oxidase deficiency due to molybdenum cofactor deficiency type A","MONDO:0009643","https://search.clinicalgenome.org/kb/conditions/MONDO:0009643","Autosomal recessive inheritance","","","","","definitive evidence (04/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c7c418c-3aea-415f-9953-c84526232963-2022-04-08T160000.000Z","General Inborn Errors of Metabolism","","",""
"MOCS2","HGNC:7193","https://search.clinicalgenome.org/kb/genes/HGNC:7193","sulfite oxidase deficiency due to molybdenum cofactor deficiency type B","MONDO:0009644","https://search.clinicalgenome.org/kb/conditions/MONDO:0009644","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7193","Dosage Working Group","definitive evidence (12/09/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd8d7002-1f0a-4fa7-9311-9d63b31b0125-2022-12-09T170000.000Z","General Inborn Errors of Metabolism","","",""
"MOGS","HGNC:24862","https://search.clinicalgenome.org/kb/genes/HGNC:24862","MOGS-congenital disorder of glycosylation","MONDO:0011629","https://search.clinicalgenome.org/kb/conditions/MONDO:0011629","Autosomal recessive inheritance","","","","","definitive evidence (07/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a628248-c2f9-4d31-b614-e082e3f83416-2021-07-20T130742.194Z","General Inborn Errors of Metabolism","","",""
"MORC2","HGNC:23573","https://search.clinicalgenome.org/kb/genes/HGNC:23573","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal dominant inheritance","","","","","limited evidence (06/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23358115-fe60-41c7-b01e-44d1cb8329b1-2021-06-14T142952.247Z","Mitochondrial Diseases","","",""
"MORC2","HGNC:23573","https://search.clinicalgenome.org/kb/genes/HGNC:23573","Charcot-Marie-Tooth disease axonal type 2Z","MONDO:0014736","https://search.clinicalgenome.org/kb/conditions/MONDO:0014736","Autosomal dominant inheritance","","","","","definitive evidence (05/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3d5168d-b00c-475c-a696-d740675fbc84-2023-05-05T160000.000Z","Charcot-Marie-Tooth","","",""
"MPC1","HGNC:21606","https://search.clinicalgenome.org/kb/genes/HGNC:21606","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (11/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de4dba62-51ef-4e0b-942a-a2175d3f9fb1-2023-11-20T050000.000Z","Mitochondrial Diseases","","",""
"MPDU1","HGNC:7207","https://search.clinicalgenome.org/kb/genes/HGNC:7207","MPDU1-congenital disorder of glycosylation","MONDO:0012211","https://search.clinicalgenome.org/kb/conditions/MONDO:0012211","Autosomal recessive inheritance","","","","","definitive evidence (07/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d202368-a518-4c8c-81a3-1462d8fd18e6-2025-07-16T160000.000Z","Congenital Disorders of Glycosylation","","",""
"MPDZ","HGNC:7208","https://search.clinicalgenome.org/kb/genes/HGNC:7208","hydrocephalus, nonsyndromic, autosomal recessive 2","MONDO:0014085","https://search.clinicalgenome.org/kb/conditions/MONDO:0014085","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7208","Dosage Working Group","","","","","",""
"MPI","HGNC:7216","https://search.clinicalgenome.org/kb/genes/HGNC:7216","MPI-congenital disorder of glycosylation","MONDO:0011257","https://search.clinicalgenome.org/kb/conditions/MONDO:0011257","Autosomal recessive inheritance","","","","","definitive evidence (12/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6c880b8-c9fc-453b-8975-236a97047192-2023-12-20T170000.000Z","Congenital Disorders of Glycosylation","","",""
"MPIG6B","HGNC:13937","https://search.clinicalgenome.org/kb/genes/HGNC:13937","thrombocytopenia, anemia, and myelofibrosis","MONDO:0044316","https://search.clinicalgenome.org/kb/conditions/MONDO:0044316","Autosomal recessive inheritance","","","","","definitive evidence (10/28/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03b93956-5abe-41f2-ba14-1e57952606b3-2020-10-28T160000.000Z","Hemostasis Thrombosis","","",""
"MPL","HGNC:7217","https://search.clinicalgenome.org/kb/genes/HGNC:7217","congenital amegakaryocytic thrombocytopenia 1","MONDO:0800452","https://search.clinicalgenome.org/kb/conditions/MONDO:0800452","Autosomal recessive inheritance","","","","","definitive evidence (07/22/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d97f51ea-0148-483b-a18e-e61ee2e30690-2020-07-22T160000.000Z","Hemostasis Thrombosis","","",""
"MPL","HGNC:7217","https://search.clinicalgenome.org/kb/genes/HGNC:7217","thrombocythemia 2","MONDO:0011173","https://search.clinicalgenome.org/kb/conditions/MONDO:0011173","Autosomal dominant inheritance","","","","","definitive evidence (07/22/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_23b39955-2760-46aa-978b-d27d4a212567-2020-07-22T160000.000Z","Hemostasis Thrombosis","","",""
"MPLKIP","HGNC:16002","https://search.clinicalgenome.org/kb/genes/HGNC:16002","trichothiodystrophy 4, nonphotosensitive","MONDO:0021013","https://search.clinicalgenome.org/kb/conditions/MONDO:0021013","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16002","Dosage Working Group","","","","","",""
"MPST","HGNC:7223","https://search.clinicalgenome.org/kb/genes/HGNC:7223","encephalopathy due to beta-mercaptolactate-cysteine disulfiduria","MONDO:0009585","https://search.clinicalgenome.org/kb/conditions/MONDO:0009585","Autosomal recessive inheritance","","","","","no known disease relationship (04/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc10dd44-961d-4925-b387-ed4569242eff-2023-04-28T160000.000Z","Aminoacidopathy","","",""
"MPV17","HGNC:7224","https://search.clinicalgenome.org/kb/genes/HGNC:7224","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (07/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc7c6e4d-1a22-4ab4-b1d5-8de6bcc3b961-2022-07-21T040000.000Z","Mitochondrial Diseases","","",""
"MPZ","HGNC:7225","https://search.clinicalgenome.org/kb/genes/HGNC:7225","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Autosomal dominant inheritance","","","","","definitive evidence (08/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_11f638d2-d8d2-4fe4-ab79-acff5cf32a18-2020-08-25T160000.000Z","Charcot-Marie-Tooth","","",""
"MPZ","HGNC:7225","https://search.clinicalgenome.org/kb/genes/HGNC:7225","Charcot-Marie-Tooth disease type 1B","MONDO:0007307","https://search.clinicalgenome.org/kb/conditions/MONDO:0007307","N/A","","","","","","","","Limited Actionability (03/19/2024) | Moderate Actionability (03/19/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC129 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC129"," | "
"MPZ","HGNC:7225","https://search.clinicalgenome.org/kb/genes/HGNC:7225","Charcot-Marie-Tooth disease type 1","MONDO:0019011","https://search.clinicalgenome.org/kb/conditions/MONDO:0019011","N/A","","","","","","","","Limited Actionability (03/19/2024) | Moderate Actionability (03/19/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC129 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC129"," | "
"MPZL2","HGNC:3496","https://search.clinicalgenome.org/kb/genes/HGNC:3496","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","strong evidence (03/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_046d28d7-60d8-4c7e-a901-37c86fa6a77e-2021-03-26T160000.000Z","Hearing Loss","","",""
"MRAS","HGNC:7227","https://search.clinicalgenome.org/kb/genes/HGNC:7227","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","","","","","moderate evidence (12/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04ca29c1-6b44-474c-b54b-1c8be52de172-2022-12-14T170000.000Z","RASopathy","","",""
"MRE11","HGNC:7230","https://search.clinicalgenome.org/kb/genes/HGNC:7230","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (12/19/2023)","0 - No Evidence for Triplosensitivity (12/19/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7230","Dosage Working Group","refuting evidence (03/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e720d1f7-62b3-4a0f-97de-e1144d0475a9-2023-03-14T170000.000Z","Hereditary Cancer","","",""
"MRE11","HGNC:7230","https://search.clinicalgenome.org/kb/genes/HGNC:7230","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (12/19/2023)","0 - No Evidence for Triplosensitivity (12/19/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7230","Dosage Working Group","refuting evidence (12/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5b721c7-52ab-4475-a87e-cb0fa3be198f-2023-12-15T180000.000Z","Hereditary Cancer","","",""
"MRPL3","HGNC:10379","https://search.clinicalgenome.org/kb/genes/HGNC:10379","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (08/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2164ee6c-0956-4453-8d0a-afc21b691232-2022-08-15T160000.000Z","Mitochondrial Diseases","","",""
"MRPL39","HGNC:14027","https://search.clinicalgenome.org/kb/genes/HGNC:14027","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (01/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b112a15-0b02-4942-bd93-7cac3305f3b9-2024-01-29T170000.000Z","Mitochondrial Diseases","","",""
"MRPL44","HGNC:16650","https://search.clinicalgenome.org/kb/genes/HGNC:16650","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (09/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a5d4050-143c-42ed-b3b8-1742fc86bd28-2022-09-07T160000.000Z","Mitochondrial Diseases","","",""
"MRPS16","HGNC:14048","https://search.clinicalgenome.org/kb/genes/HGNC:14048","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","limited evidence (06/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bc34eb8-8f60-4fad-892b-11929760cae6-2022-06-16T160000.000Z","Mitochondrial Diseases","","",""
"MRPS22","HGNC:14508","https://search.clinicalgenome.org/kb/genes/HGNC:14508","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (07/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac32e0eb-0906-406f-9d1d-baca4e5096c3-2022-07-18T160000.000Z","Mitochondrial Diseases","","",""
"MRPS25","HGNC:14511","https://search.clinicalgenome.org/kb/genes/HGNC:14511","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","limited evidence (06/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c0105a1-52a1-4674-b0d2-61bba99d1d9a-2024-06-20T040000.000Z","Mitochondrial Diseases","","",""
"MRPS28","HGNC:14513","https://search.clinicalgenome.org/kb/genes/HGNC:14513","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","limited evidence (06/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6267db05-fe30-4c0c-a221-63229d2a88e7-2024-06-20T160000.000Z","Mitochondrial Diseases","","",""
"MRPS34","HGNC:16618","https://search.clinicalgenome.org/kb/genes/HGNC:16618","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (08/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41d20487-f150-41b6-947c-ce77e405e8de-2020-08-27T162259.700Z","Mitochondrial Diseases","","",""
"MS4A1","HGNC:7315","https://search.clinicalgenome.org/kb/genes/HGNC:7315","immunodeficiency, common variable, 5","MONDO:0013285","https://search.clinicalgenome.org/kb/conditions/MONDO:0013285","Autosomal recessive inheritance","","","","","limited evidence (03/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eba48c0f-53fa-48c9-8f4e-9892d095b515-2022-03-02T185714.677Z","Antibody Deficiencies GCEP","","",""
"MSH2","HGNC:7325","https://search.clinicalgenome.org/kb/genes/HGNC:7325","mismatch repair cancer syndrome 1","MONDO:0010159","https://search.clinicalgenome.org/kb/conditions/MONDO:0010159","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7325","Dosage Working Group","definitive evidence (10/09/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ce2b2b9-9b04-4a47-b6fa-b85c60ba1c08-2018-10-09T144400.302Z","Hereditary Cancer","","",""
"MSH2","HGNC:7325","https://search.clinicalgenome.org/kb/genes/HGNC:7325","Lynch syndrome","MONDO:0005835","https://search.clinicalgenome.org/kb/conditions/MONDO:0005835","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7325","Dosage Working Group","definitive evidence (06/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f3acd9a-e2e5-498a-8974-399969ffa2d1-2022-06-20T170000.000Z","Hereditary Cancer","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021) | Definitive Actionability (02/11/2015)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC069 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC069"," | "
"MSH2","HGNC:7325","https://search.clinicalgenome.org/kb/genes/HGNC:7325","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7325","Dosage Working Group","refuting evidence (03/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9cb3ff3b-3e0e-42f2-85d5-3ffb1506a255-2023-03-14T170000.000Z","Hereditary Cancer","","",""
"MSH2","HGNC:7325","https://search.clinicalgenome.org/kb/genes/HGNC:7325","Lynch syndrome 1","MONDO:0007356","https://search.clinicalgenome.org/kb/conditions/MONDO:0007356","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7325","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021) | Definitive Actionability (02/11/2015)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC069 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC069"," | "
"MSH2","HGNC:7325","https://search.clinicalgenome.org/kb/genes/HGNC:7325","mismatch repair cancer syndrome 2","MONDO:0030840","https://search.clinicalgenome.org/kb/conditions/MONDO:0030840","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7325","Dosage Working Group","","","","Moderate Actionability (08/24/2022) | Strong Actionability (08/24/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1055 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1055"," | "
"MSH2","HGNC:7325","https://search.clinicalgenome.org/kb/genes/HGNC:7325","mismatch repair cancer syndrome","MONDO:0031219","https://search.clinicalgenome.org/kb/conditions/MONDO:0031219","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7325","Dosage Working Group","","","","Moderate Actionability (08/24/2022) | Strong Actionability (08/24/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1055 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1055"," | "
"MSH3","HGNC:7326","https://search.clinicalgenome.org/kb/genes/HGNC:7326","familial adenomatous polyposis 4","MONDO:0044300","https://search.clinicalgenome.org/kb/conditions/MONDO:0044300","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/08/2020)","0 - No Evidence for Triplosensitivity (05/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7326","Dosage Working Group","definitive evidence (08/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ec777aa-af6a-4cc6-ace1-b22e4b493457-2024-08-29T170000.000Z","Hereditary Cancer","","",""
"MSH3","HGNC:7326","https://search.clinicalgenome.org/kb/genes/HGNC:7326","Lynch syndrome","MONDO:0005835","https://search.clinicalgenome.org/kb/conditions/MONDO:0005835","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/08/2020)","0 - No Evidence for Triplosensitivity (05/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7326","Dosage Working Group","disputing (08/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9216399-2779-43fa-8b95-b10020753f43-2024-08-29T170000.000Z","Hereditary Cancer","","",""
"MSH6","HGNC:7329","https://search.clinicalgenome.org/kb/genes/HGNC:7329","mismatch repair cancer syndrome 1","MONDO:0010159","https://search.clinicalgenome.org/kb/conditions/MONDO:0010159","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7329","Dosage Working Group","definitive evidence (10/09/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7d02927-ac93-4a43-a86d-01cd381f4e9f-2018-10-09T145726.378Z","Hereditary Cancer","","",""
"MSH6","HGNC:7329","https://search.clinicalgenome.org/kb/genes/HGNC:7329","Lynch syndrome","MONDO:0005835","https://search.clinicalgenome.org/kb/conditions/MONDO:0005835","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7329","Dosage Working Group","definitive evidence (07/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc6e042d-74ad-42fc-9638-7f53f8bc32f9-2023-07-05T170000.000Z","Hereditary Cancer","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021) | Definitive Actionability (02/11/2015)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC069 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC069"," | "
"MSH6","HGNC:7329","https://search.clinicalgenome.org/kb/genes/HGNC:7329","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7329","Dosage Working Group","disputing (12/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3c3cce5-7d58-4800-a956-e83c092071de-2023-12-21T180000.000Z","Hereditary Cancer","","",""
"MSH6","HGNC:7329","https://search.clinicalgenome.org/kb/genes/HGNC:7329","Lynch syndrome 5","MONDO:0013710","https://search.clinicalgenome.org/kb/conditions/MONDO:0013710","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7329","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021) | Definitive Actionability (02/11/2015)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC069 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC069"," | "
"MSH6","HGNC:7329","https://search.clinicalgenome.org/kb/genes/HGNC:7329","mismatch repair cancer syndrome","MONDO:0031219","https://search.clinicalgenome.org/kb/conditions/MONDO:0031219","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7329","Dosage Working Group","","","","Moderate Actionability (08/24/2022) | Strong Actionability (08/24/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1055 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1055"," | "
"MSH6","HGNC:7329","https://search.clinicalgenome.org/kb/genes/HGNC:7329","mismatch repair cancer syndrome 3","MONDO:0030841","https://search.clinicalgenome.org/kb/conditions/MONDO:0030841","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7329","Dosage Working Group","","","","Moderate Actionability (08/24/2022) | Strong Actionability (08/24/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1055 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1055"," | "
"MSL3","HGNC:7370","https://search.clinicalgenome.org/kb/genes/HGNC:7370","Basilicata-Akhtar syndrome","MONDO:0026730","https://search.clinicalgenome.org/kb/conditions/MONDO:0026730","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/23/2023)","0 - No Evidence for Triplosensitivity (08/23/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7370","Dosage Working Group","definitive evidence (01/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f700593e-b7c1-4149-810d-7e71fbea61d0-2022-01-18T170000.000Z","Intellectual Disability and Autism","","",""
"MSN","HGNC:7373","https://search.clinicalgenome.org/kb/genes/HGNC:7373","combined immunodeficiency due to moesin deficiency","MONDO:0010514","https://search.clinicalgenome.org/kb/conditions/MONDO:0010514","X-linked inheritance","","","","","definitive evidence (01/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d65d1f9-be54-4e41-b8d7-c8a48e8c4146-2023-01-19T180000.000Z","SCID-CID","","",""
"MSRB3","HGNC:27375","https://search.clinicalgenome.org/kb/genes/HGNC:27375","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/23/2021)","0 - No Evidence for Triplosensitivity (08/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:27375","Dosage Working Group","definitive evidence (11/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ea7c7e0-dc56-4484-b2b6-5e3899d04013-2021-11-30T170000.000Z","Hearing Loss","","",""
"MSTO1","HGNC:29678","https://search.clinicalgenome.org/kb/genes/HGNC:29678","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (05/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10089a58-c9b4-497a-afb0-d249220eb2aa-2023-05-18T160000.000Z","Mitochondrial Diseases","","",""
"MSX1","HGNC:7391","https://search.clinicalgenome.org/kb/genes/HGNC:7391","tooth agenesis, selective, 1","MONDO:0007129","https://search.clinicalgenome.org/kb/conditions/MONDO:0007129","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/12/2021)","0 - No Evidence for Triplosensitivity (01/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7391","Dosage Working Group","definitive evidence (02/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6624512d-c0c5-4620-9d36-47fa7f1fbee6-2024-02-08T170000.000Z","Craniofacial Malformations","","",""
"MSX1","HGNC:7391","https://search.clinicalgenome.org/kb/genes/HGNC:7391","tooth and nail syndrome","MONDO:0008582","https://search.clinicalgenome.org/kb/conditions/MONDO:0008582","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/12/2021)","0 - No Evidence for Triplosensitivity (01/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7391","Dosage Working Group","disputing (10/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb08639f-7c58-45f1-8b00-644fcc820a38-2023-10-19T160000.000Z","Craniofacial Malformations","","",""
"MSX2","HGNC:7392","https://search.clinicalgenome.org/kb/genes/HGNC:7392","parietal foramina","MONDO:0018953","https://search.clinicalgenome.org/kb/conditions/MONDO:0018953","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (06/28/2023)","0 - No Evidence for Triplosensitivity (06/28/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7392","Dosage Working Group","definitive evidence (07/08/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bb862dd-e6d2-4dc8-a7f3-3a03d58f9ade-2020-07-08T170000.000Z","Craniofacial Malformations","","",""
"MSX2","HGNC:7392","https://search.clinicalgenome.org/kb/genes/HGNC:7392","craniosynostosis 2","MONDO:0011481","https://search.clinicalgenome.org/kb/conditions/MONDO:0011481","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (06/28/2023)","0 - No Evidence for Triplosensitivity (06/28/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7392","Dosage Working Group","definitive evidence (09/28/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac8a9313-9ef2-4556-9a25-db7fa2ed99ed-2020-09-28T170000.000Z","Craniofacial Malformations","","",""
"MSX2","HGNC:7392","https://search.clinicalgenome.org/kb/genes/HGNC:7392","parietal foramina 1","MONDO:0008197","https://search.clinicalgenome.org/kb/conditions/MONDO:0008197","N/A","1 - Little Evidence for Haploinsufficiency (06/28/2023)","0 - No Evidence for Triplosensitivity (06/28/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7392","Dosage Working Group","","","","","",""
"MT-ATP6","HGNC:7414","https://search.clinicalgenome.org/kb/genes/HGNC:7414","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","definitive evidence (06/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e492464b-cb98-4bf4-a12e-169b59576b04-2021-06-28T145350.161Z","Mitochondrial Diseases","","",""
"MT-ATP6","HGNC:7414","https://search.clinicalgenome.org/kb/genes/HGNC:7414","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (05/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d7b0569-8dfe-40cf-a83b-44071430206f-2023-05-18T160000.000Z","Mitochondrial Diseases","","",""
"MT-ATP8","HGNC:7415","https://search.clinicalgenome.org/kb/genes/HGNC:7415","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","limited evidence (11/28/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dae079f2-ca8a-4994-a46b-56ac3d3094e6-2022-11-28T170000.000Z","Mitochondrial Diseases","","",""
"MT-CO1","HGNC:7419","https://search.clinicalgenome.org/kb/genes/HGNC:7419","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","limited evidence (06/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_227922e2-1f4e-4bd5-9fc2-d48bac5d394f-2021-06-28T143540.269Z","Mitochondrial Diseases","","",""
"MT-CO1","HGNC:7419","https://search.clinicalgenome.org/kb/genes/HGNC:7419","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (06/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e87f1ffb-3657-4f88-92e0-20936346c207-2023-06-05T160000.000Z","Mitochondrial Diseases","","",""
"MT-CO2","HGNC:7421","https://search.clinicalgenome.org/kb/genes/HGNC:7421","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","limited evidence (06/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41d6a25c-4300-4e43-b0f8-1923ff3ddad8-2021-06-28T144136.451Z","Mitochondrial Diseases","","",""
"MT-CO2","HGNC:7421","https://search.clinicalgenome.org/kb/genes/HGNC:7421","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (07/11/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8665d7c-6fca-44ba-9c37-d6e530ca263b-2023-07-11T160000.000Z","Mitochondrial Diseases","","",""
"MT-CO3","HGNC:7422","https://search.clinicalgenome.org/kb/genes/HGNC:7422","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","limited evidence (06/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_996428ee-5af2-458b-afb7-6e29348c585a-2021-06-28T144716.059Z","Mitochondrial Diseases","","",""
"MT-CO3","HGNC:7422","https://search.clinicalgenome.org/kb/genes/HGNC:7422","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (03/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d58759e1-bf55-44f2-9a97-839a9360d156-2023-03-20T160000.000Z","Mitochondrial Diseases","","",""
"MT-CYB","HGNC:7427","https://search.clinicalgenome.org/kb/genes/HGNC:7427","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (03/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ee50909-c576-4998-81bc-09980529cbb2-2024-03-04T170000.000Z","Mitochondrial Diseases","","",""
"MT-ND1","HGNC:7455","https://search.clinicalgenome.org/kb/genes/HGNC:7455","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","definitive evidence (04/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bb99c59-15c9-4e19-ba8b-df6cb800c32d-2021-04-14T040000.000Z","Mitochondrial Diseases","","",""
"MT-ND1","HGNC:7455","https://search.clinicalgenome.org/kb/genes/HGNC:7455","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (04/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d55015a-dd90-479e-8e5b-4693e321c705-2023-04-03T160000.000Z","Mitochondrial Diseases","","",""
"MT-ND2","HGNC:7456","https://search.clinicalgenome.org/kb/genes/HGNC:7456","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","limited evidence (04/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80f1dcc9-aaf3-45f7-987a-4e0d83140913-2021-04-14T040000.000Z","Mitochondrial Diseases","","",""
"MT-ND2","HGNC:7456","https://search.clinicalgenome.org/kb/genes/HGNC:7456","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","moderate evidence (05/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ce38deed-d954-4e68-aed1-ede90e274a2c-2023-05-18T160000.000Z","Mitochondrial Diseases","","",""
"MT-ND3","HGNC:7458","https://search.clinicalgenome.org/kb/genes/HGNC:7458","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","definitive evidence (03/24/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8af71e8b-b1f8-45d6-9dd7-e403a6f6080e-2021-03-24T040000.000Z","Mitochondrial Diseases","","",""
"MT-ND3","HGNC:7458","https://search.clinicalgenome.org/kb/genes/HGNC:7458","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (03/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06aaf3f7-69d3-415d-be22-257ed21abbc1-2023-03-06T170000.000Z","Mitochondrial Diseases","","",""
"MT-ND4","HGNC:7459","https://search.clinicalgenome.org/kb/genes/HGNC:7459","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","definitive evidence (05/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f05be3e5-352f-49a5-84af-8846d6839373-2021-05-17T040000.000Z","Mitochondrial Diseases","","",""
"MT-ND4","HGNC:7459","https://search.clinicalgenome.org/kb/genes/HGNC:7459","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (03/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14ad3d43-a07b-4420-bc18-f10e71b5f974-2023-03-06T170000.000Z","Mitochondrial Diseases","","",""
"MT-ND4L","HGNC:7460","https://search.clinicalgenome.org/kb/genes/HGNC:7460","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","limited evidence (10/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_315cca07-6aef-4749-abf2-c0eba7d6c1c5-2022-10-20T160000.000Z","Mitochondrial Diseases","","",""
"MT-ND5","HGNC:7461","https://search.clinicalgenome.org/kb/genes/HGNC:7461","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","definitive evidence (06/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e941d385-716f-4264-8f24-ffe3022579e2-2021-06-14T155537.548Z","Mitochondrial Diseases","","",""
"MT-ND5","HGNC:7461","https://search.clinicalgenome.org/kb/genes/HGNC:7461","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (05/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af2efc84-7d75-49a9-ae61-2ea59bf3ce5f-2023-05-03T160000.000Z","Mitochondrial Diseases","","",""
"MT-ND6","HGNC:7462","https://search.clinicalgenome.org/kb/genes/HGNC:7462","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","definitive evidence (05/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_836f975f-27f5-47c9-a58e-35089b6b39e6-2021-05-17T040000.000Z","Mitochondrial Diseases","","",""
"MT-ND6","HGNC:7462","https://search.clinicalgenome.org/kb/genes/HGNC:7462","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (05/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f581c96-e3cc-49bb-aa2b-98650efa4157-2023-05-03T160000.000Z","Mitochondrial Diseases","","",""
"MT-RNR1","HGNC:7470","https://search.clinicalgenome.org/kb/genes/HGNC:7470","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (03/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4408d791-630e-491d-b644-0ad40319a832-2024-03-04T050000.000Z","Mitochondrial Diseases","","",""
"MT-RNR2","HGNC:7471","https://search.clinicalgenome.org/kb/genes/HGNC:7471","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","limited evidence (12/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5cd88bf-4d80-4d6f-b479-cd4a3725b039-2022-12-05T170000.000Z","Mitochondrial Diseases","","",""
"MT-TA","HGNC:7475","https://search.clinicalgenome.org/kb/genes/HGNC:7475","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (03/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_222b73fe-4a05-457f-bc36-f32dc4877056-2024-03-04T170000.000Z","Mitochondrial Diseases","","",""
"MT-TC","HGNC:7477","https://search.clinicalgenome.org/kb/genes/HGNC:7477","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","limited evidence (03/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3d92b0e-6753-4355-a982-2f9cf7cad8be-2023-03-20T160000.000Z","Mitochondrial Diseases","","",""
"MT-TD","HGNC:7478","https://search.clinicalgenome.org/kb/genes/HGNC:7478","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","moderate evidence (01/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_620f9725-7a33-4b55-99bc-3d32d9e8ff63-2023-01-19T170000.000Z","Mitochondrial Diseases","","",""
"MT-TE","HGNC:7479","https://search.clinicalgenome.org/kb/genes/HGNC:7479","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (03/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b560595b-ee5c-4b60-b63d-1e89a5e403b4-2023-03-20T160000.000Z","Mitochondrial Diseases","","",""
"MT-TF","HGNC:7481","https://search.clinicalgenome.org/kb/genes/HGNC:7481","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (02/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a4b94030-f2dd-431d-9114-a7fd8b1e32a5-2023-02-16T170000.000Z","Mitochondrial Diseases","","",""
"MT-TG","HGNC:7486","https://search.clinicalgenome.org/kb/genes/HGNC:7486","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","moderate evidence (11/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e01ede3c-456b-432b-b1e0-27809dd1e976-2022-11-07T170000.000Z","Mitochondrial Diseases","","",""
"MT-TH","HGNC:7487","https://search.clinicalgenome.org/kb/genes/HGNC:7487","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (11/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_debb8afe-e379-465f-8b74-0241e1b14f8a-2022-11-07T170000.000Z","Mitochondrial Diseases","","",""
"MT-TI","HGNC:7488","https://search.clinicalgenome.org/kb/genes/HGNC:7488","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","limited evidence (02/03/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69991755-b62f-42aa-bbe3-30ac10e4311d-2021-02-03T050000.000Z","Mitochondrial Diseases","","",""
"MT-TI","HGNC:7488","https://search.clinicalgenome.org/kb/genes/HGNC:7488","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (06/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bbdedc92-8d9d-4912-a4d1-69a91ea65ef0-2023-06-05T040000.000Z","Mitochondrial Diseases","","",""
"MT-TI","HGNC:7488","https://search.clinicalgenome.org/kb/genes/HGNC:7488","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Mitochondrial inheritance","","","","","moderate evidence (12/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ac07ab9-8580-4fbf-b599-35dd25f3025d-2023-12-18T010000.000Z","Hereditary Cardiovascular Disease","","",""
"MT-TK","HGNC:7489","https://search.clinicalgenome.org/kb/genes/HGNC:7489","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","definitive evidence (06/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f237644-83f5-412e-9bfa-01fbd280c15a-2021-06-28T155537.306Z","Mitochondrial Diseases","","",""
"MT-TK","HGNC:7489","https://search.clinicalgenome.org/kb/genes/HGNC:7489","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (04/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d7a973c-7786-48a1-bf82-3764761739ba-2023-04-17T160000.000Z","Mitochondrial Diseases","","",""
"MT-TL1","HGNC:7490","https://search.clinicalgenome.org/kb/genes/HGNC:7490","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","limited evidence (06/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_efef782a-88db-470d-9687-23629c75e05a-2021-06-28T154710.419Z","Mitochondrial Diseases","","",""
"MT-TL1","HGNC:7490","https://search.clinicalgenome.org/kb/genes/HGNC:7490","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (04/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_555b9573-762e-4c6a-904e-f2227c916bc4-2023-04-17T160000.000Z","Mitochondrial Diseases","","",""
"MT-TL2","HGNC:7491","https://search.clinicalgenome.org/kb/genes/HGNC:7491","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","disputing (04/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cee9c77-e47a-4b2f-8029-b1da28799df6-2021-04-14T040000.000Z","Mitochondrial Diseases","","",""
"MT-TL2","HGNC:7491","https://search.clinicalgenome.org/kb/genes/HGNC:7491","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (06/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6cd5832f-dd32-4217-bec4-93bd4b7b6618-2023-06-05T040000.000Z","Mitochondrial Diseases","","",""
"MT-TM","HGNC:7492","https://search.clinicalgenome.org/kb/genes/HGNC:7492","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (12/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56195896-f357-403b-b7db-118314bcec94-2022-12-19T170000.000Z","Mitochondrial Diseases","","",""
"MT-TN","HGNC:7493","https://search.clinicalgenome.org/kb/genes/HGNC:7493","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (10/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4659b074-c4eb-4290-9716-f39a213e37cc-2022-10-20T160000.000Z","Mitochondrial Diseases","","",""
"MT-TP","HGNC:7494","https://search.clinicalgenome.org/kb/genes/HGNC:7494","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (12/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60c99f15-3a4b-4d7f-be1c-5edde18a4396-2022-12-19T170000.000Z","Mitochondrial Diseases","","",""
"MT-TQ","HGNC:7495","https://search.clinicalgenome.org/kb/genes/HGNC:7495","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","limited evidence (04/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be8894e0-8d48-4f4a-86cd-66bc465cde70-2023-04-17T160000.000Z","Mitochondrial Diseases","","",""
"MT-TR","HGNC:7496","https://search.clinicalgenome.org/kb/genes/HGNC:7496","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","moderate evidence (03/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ef40a42-d2c5-4770-a251-7e2c0b0ce96a-2024-03-04T170000.000Z","Mitochondrial Diseases","","",""
"MT-TS1","HGNC:7497","https://search.clinicalgenome.org/kb/genes/HGNC:7497","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (01/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6647b8f-3d8a-4a6f-b54d-383a33fc9828-2023-01-19T170000.000Z","Mitochondrial Diseases","","",""
"MT-TS2","HGNC:7498","https://search.clinicalgenome.org/kb/genes/HGNC:7498","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","moderate evidence (12/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4af82e37-83b3-4c7a-9cbe-f2b587fcf809-2022-12-05T170000.000Z","Mitochondrial Diseases","","",""
"MT-TT","HGNC:7499","https://search.clinicalgenome.org/kb/genes/HGNC:7499","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","moderate evidence (04/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99e85f3e-3c1f-4265-8b70-0870e95d4c30-2023-04-17T160000.000Z","Mitochondrial Diseases","","",""
"MT-TV","HGNC:7500","https://search.clinicalgenome.org/kb/genes/HGNC:7500","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","moderate evidence (04/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42f2fc91-c26d-416c-8d93-448e4a52983b-2021-04-14T040000.000Z","Mitochondrial Diseases","","",""
"MT-TV","HGNC:7500","https://search.clinicalgenome.org/kb/genes/HGNC:7500","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (04/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66a243e9-fa10-490c-9c85-9725a263e598-2023-04-03T160000.000Z","Mitochondrial Diseases","","",""
"MT-TW","HGNC:7501","https://search.clinicalgenome.org/kb/genes/HGNC:7501","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Mitochondrial inheritance","","","","","limited evidence (06/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3dc54202-27f3-4bf4-883f-5273a49dcb70-2021-06-28T150550.120Z","Mitochondrial Diseases","","",""
"MT-TW","HGNC:7501","https://search.clinicalgenome.org/kb/genes/HGNC:7501","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (05/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03bdbd98-2ffd-4b0f-8d97-b1d89a4a2b61-2023-05-03T160000.000Z","Mitochondrial Diseases","","",""
"MT-TY","HGNC:7502","https://search.clinicalgenome.org/kb/genes/HGNC:7502","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mitochondrial inheritance","","","","","definitive evidence (02/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d035d0c2-f0c9-4767-b833-99be610d3e46-2023-02-16T170000.000Z","Mitochondrial Diseases","","",""
"MTAP","HGNC:7413","https://search.clinicalgenome.org/kb/genes/HGNC:7413","diaphyseal medullary stenosis-bone malignancy syndrome","MONDO:0007205","https://search.clinicalgenome.org/kb/conditions/MONDO:0007205","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (10/12/2022)","0 - No Evidence for Triplosensitivity (10/12/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7413","Dosage Working Group","moderate evidence (06/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c2243ec-a10f-4aab-aaf9-99153d805455-2021-06-15T232951.915Z","Hereditary Cancer","","",""
"MTFMT","HGNC:29666","https://search.clinicalgenome.org/kb/genes/HGNC:29666","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29666","Dosage Working Group","definitive evidence (03/19/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e7a00ee-ef09-443f-9d66-03128e1fb225-2020-03-19T194517.723Z","Mitochondrial Diseases","","",""
"MTFMT","HGNC:29666","https://search.clinicalgenome.org/kb/genes/HGNC:29666","combined oxidative phosphorylation defect type 15","MONDO:0013987","https://search.clinicalgenome.org/kb/conditions/MONDO:0013987","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29666","Dosage Working Group","","","","","",""
"MTHFR","HGNC:7436","https://search.clinicalgenome.org/kb/genes/HGNC:7436","homocystinuria due to methylene tetrahydrofolate reductase deficiency","MONDO:0009353","https://search.clinicalgenome.org/kb/conditions/MONDO:0009353","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7436","Dosage Working Group","definitive evidence (06/18/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cbfc5297-ed0d-4d7c-bca6-747114ed2b17-2019-06-18T160000.000Z","Aminoacidopathy","","",""
"MTM1","HGNC:7448","https://search.clinicalgenome.org/kb/genes/HGNC:7448","X-linked myotubular myopathy","MONDO:0010683","https://search.clinicalgenome.org/kb/conditions/MONDO:0010683","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/11/2021)","0 - No Evidence for Triplosensitivity (01/11/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7448","Dosage Working Group","definitive evidence (11/22/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b60f008-871f-4c5f-aa46-099d09fb66df-2019-11-22T170000.000Z","Congenital Myopathies","","",""
"MTMR2","HGNC:7450","https://search.clinicalgenome.org/kb/genes/HGNC:7450","demyelinating hereditary motor and sensory neuropathy","MONDO:0018776","https://search.clinicalgenome.org/kb/conditions/MONDO:0018776","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7450","Dosage Working Group","definitive evidence (02/11/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44a837e2-ae06-4e4d-b7cf-ae2a3009b47d-2020-02-11T170000.000Z","Charcot-Marie-Tooth","","",""
"MTMR2","HGNC:7450","https://search.clinicalgenome.org/kb/genes/HGNC:7450","Charcot-Marie-Tooth disease type 4B1","MONDO:0011066","https://search.clinicalgenome.org/kb/conditions/MONDO:0011066","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7450","Dosage Working Group","","","","","",""
"MTO1","HGNC:19261","https://search.clinicalgenome.org/kb/genes/HGNC:19261","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19261","Dosage Working Group","definitive evidence (03/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08fff88b-cbbd-46f3-bf35-f7b7a348ab54-2024-03-04T170000.000Z","Mitochondrial Diseases","","",""
"MTO1","HGNC:19261","https://search.clinicalgenome.org/kb/genes/HGNC:19261","mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency","MONDO:0013865","https://search.clinicalgenome.org/kb/conditions/MONDO:0013865","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19261","Dosage Working Group","","","","","",""
"MTOR","HGNC:3942","https://search.clinicalgenome.org/kb/genes/HGNC:3942","overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes","MONDO:0100283","https://search.clinicalgenome.org/kb/conditions/MONDO:0100283","Autosomal dominant inheritance","","","","","definitive evidence (07/29/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92ce0145-031d-41c4-8b74-0f9411629b64-2021-07-29T213256.506Z","Brain Malformations","","",""
"MTPAP","HGNC:25532","https://search.clinicalgenome.org/kb/genes/HGNC:25532","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (08/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ffdfbc2d-29c5-4077-a871-940abdb27cb7-2022-08-01T160000.000Z","Mitochondrial Diseases","","",""
"MTR","HGNC:7468","https://search.clinicalgenome.org/kb/genes/HGNC:7468","methylcobalamin deficiency type cblG","MONDO:0009609","https://search.clinicalgenome.org/kb/conditions/MONDO:0009609","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7468","Dosage Working Group","definitive evidence (07/02/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1572b7da-1736-4a44-9420-d9734d53f950-2021-07-02T160000.000Z","Aminoacidopathy","","",""
"MTRFR","HGNC:26784","https://search.clinicalgenome.org/kb/genes/HGNC:26784","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","definitive evidence (04/01/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78f97463-d8b2-411a-9292-1908646dac77-2021-04-01T174500.572Z","Mitochondrial Diseases","","",""
"MTRFR","HGNC:26784","https://search.clinicalgenome.org/kb/genes/HGNC:26784","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (05/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27e53978-d972-44e0-8605-0b2c9e35eb51-2024-05-23T040000.000Z","Mitochondrial Diseases","","",""
"MTRR","HGNC:7473","https://search.clinicalgenome.org/kb/genes/HGNC:7473","methylcobalamin deficiency type cblE","MONDO:0009354","https://search.clinicalgenome.org/kb/conditions/MONDO:0009354","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7473","Dosage Working Group","definitive evidence (07/02/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_905575cf-cb80-4038-b82b-1de3ae1c469d-2021-07-02T160000.000Z","Aminoacidopathy","","",""
"MTTP","HGNC:7467","https://search.clinicalgenome.org/kb/genes/HGNC:7467","abetalipoproteinemia","MONDO:0008692","https://search.clinicalgenome.org/kb/conditions/MONDO:0008692","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7467","Dosage Working Group","","","","","",""
"MTX2","HGNC:7506","https://search.clinicalgenome.org/kb/genes/HGNC:7506","mandibuloacral dysplasia progeroid syndrome","MONDO:0030880","https://search.clinicalgenome.org/kb/conditions/MONDO:0030880","Autosomal recessive inheritance","","","","","definitive evidence (06/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95b2738d-c934-401b-8665-dd6a19ec6a05-2024-06-05T160000.000Z","Syndromic Disorders","","",""
"MUC1","HGNC:7508","https://search.clinicalgenome.org/kb/genes/HGNC:7508","tubulointerstitial kidney disease, autosomal dominant, 2","MONDO:0020726","https://search.clinicalgenome.org/kb/conditions/MONDO:0020726","Autosomal dominant inheritance","","","","","definitive evidence (01/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_effa2b38-35c6-4071-b0d1-ce6970bb6ec1-2021-01-13T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"MUTYH","HGNC:7527","https://search.clinicalgenome.org/kb/genes/HGNC:7527","familial adenomatous polyposis 2","MONDO:0012041","https://search.clinicalgenome.org/kb/conditions/MONDO:0012041","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/11/2015)","0 - No Evidence for Triplosensitivity (11/11/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7527","Dosage Working Group","definitive evidence (06/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4330fde4-0116-4781-a5ac-40c387a0b41f-2022-06-20T170000.000Z","Hereditary Cancer","Strong Actionability (01/31/2018) | Has Insufficient Evidence for Actionability Based on Early Rule-out (02/10/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC070 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC070"," | "
"MUTYH","HGNC:7527","https://search.clinicalgenome.org/kb/genes/HGNC:7527","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance | Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/11/2015)","0 - No Evidence for Triplosensitivity (11/11/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7527","Dosage Working Group","disputing (12/20/2023) | disputing (12/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c329a2e-94fd-4719-a47b-a71cc9b39eec-2023-12-20T180000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2842036e-4a06-4d05-bce0-846f0f3c1678-2023-12-20T180000.000Z","Hereditary Cancer | Hereditary Cancer","","",""
"MUTYH","HGNC:7527","https://search.clinicalgenome.org/kb/genes/HGNC:7527","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance | Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/11/2015)","0 - No Evidence for Triplosensitivity (11/11/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7527","Dosage Working Group","refuting evidence (12/21/2023) | disputing (12/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b818b8fc-7453-46be-8636-08644fd7a1d4-2023-12-21T180000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73e67e8c-0d12-44b1-a0d7-9fcc459b6773-2023-12-21T180000.000Z","Hereditary Cancer | Hereditary Cancer","","",""
"MUTYH","HGNC:7527","https://search.clinicalgenome.org/kb/genes/HGNC:7527","colorectal cancer","MONDO:0005575","https://search.clinicalgenome.org/kb/conditions/MONDO:0005575","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/11/2015)","0 - No Evidence for Triplosensitivity (11/11/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7527","Dosage Working Group","disputing (03/24/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b646b303-fb30-427c-9590-242a131624bf-2023-03-24T050000.000Z","Hereditary Cancer","","",""
"MVK","HGNC:7530","https://search.clinicalgenome.org/kb/genes/HGNC:7530","mevalonate kinase deficiency","MONDO:0017708","https://search.clinicalgenome.org/kb/conditions/MONDO:0017708","Autosomal recessive inheritance","","","","","definitive evidence (03/26/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e02aaac0-1049-4421-b7eb-00d450ceaf1d-2025-03-26T160000.000Z","Monogenic Autoinflammatory Disease","","",""
"MYBPC3","HGNC:7551","https://search.clinicalgenome.org/kb/genes/HGNC:7551","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance | Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/10/2023)","0 - No Evidence for Triplosensitivity (01/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7551","Dosage Working Group","limited evidence (05/16/2025) | limited evidence (05/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_652d0370-9574-450c-b7c4-eec86ade9046-2025-05-16T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f240fb99-f839-4b9b-8e52-f2dc49078886-2025-05-16T040000.000Z","Dilated Cardiomyopathy | Dilated Cardiomyopathy","","",""
"MYBPC3","HGNC:7551","https://search.clinicalgenome.org/kb/genes/HGNC:7551","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/10/2023)","0 - No Evidence for Triplosensitivity (01/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7551","Dosage Working Group","limited evidence (08/06/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0639d989-8415-425c-ab89-e8a3a0b6ea49-2019-08-06T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"MYBPC3","HGNC:7551","https://search.clinicalgenome.org/kb/genes/HGNC:7551","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/10/2023)","0 - No Evidence for Triplosensitivity (01/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7551","Dosage Working Group","definitive evidence (10/07/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e65896e-33f5-439d-8749-aba08a539dd0-2021-10-07T160000.000Z","Hereditary Cardiovascular Disease","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"MYBPC3","HGNC:7551","https://search.clinicalgenome.org/kb/genes/HGNC:7551","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/10/2023)","0 - No Evidence for Triplosensitivity (01/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7551","Dosage Working Group","limited evidence (07/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cbe41f1-7421-4efe-ac33-6ff3fa530b43-2024-07-08T160000.000Z","Congenital Heart Disease","","",""
"MYBPC3","HGNC:7551","https://search.clinicalgenome.org/kb/genes/HGNC:7551","hypertrophic cardiomyopathy 4","MONDO:0007268","https://search.clinicalgenome.org/kb/conditions/MONDO:0007268","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/10/2023)","0 - No Evidence for Triplosensitivity (01/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7551","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"MYBPC3","HGNC:7551","https://search.clinicalgenome.org/kb/genes/HGNC:7551","familial hypertrophic cardiomyopathy","MONDO:0024573","https://search.clinicalgenome.org/kb/conditions/MONDO:0024573","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/10/2023)","0 - No Evidence for Triplosensitivity (01/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7551","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"MYCN","HGNC:7559","https://search.clinicalgenome.org/kb/genes/HGNC:7559","Feingold syndrome type 1","MONDO:0008115","https://search.clinicalgenome.org/kb/conditions/MONDO:0008115","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/12/2017)","0 - No Evidence for Triplosensitivity (07/12/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7559","Dosage Working Group","","","","","",""
"MYH10","HGNC:7568","https://search.clinicalgenome.org/kb/genes/HGNC:7568","complex neurodevelopmental disorder with or without congenital anomalies","MONDO:0100465","https://search.clinicalgenome.org/kb/conditions/MONDO:0100465","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (01/23/2019)","0 - No Evidence for Triplosensitivity (01/23/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7568","Dosage Working Group","definitive evidence (06/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79e5c1e4-adcf-44b3-b995-dcd73d5fd9ff-2024-06-21T160000.000Z","Syndromic Disorders","","",""
"MYH10","HGNC:7568","https://search.clinicalgenome.org/kb/genes/HGNC:7568","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (01/23/2019)","0 - No Evidence for Triplosensitivity (01/23/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7568","Dosage Working Group","","","","","",""
"MYH11","HGNC:7569","https://search.clinicalgenome.org/kb/genes/HGNC:7569","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/25/2024)","0 - No Evidence for Triplosensitivity (09/25/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7569","Dosage Working Group","definitive evidence (07/03/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8252","Heritable Thoracic Aortic Aneurysm and Dissection","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC134 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC134"," | "
"MYH11","HGNC:7569","https://search.clinicalgenome.org/kb/genes/HGNC:7569","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/25/2024)","0 - No Evidence for Triplosensitivity (09/25/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7569","Dosage Working Group","limited evidence (10/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60bc01a5-0957-4664-bf1f-b9d7b42f5283-2024-10-15T160000.000Z","Congenital Heart Disease","","",""
"MYH14","HGNC:23212","https://search.clinicalgenome.org/kb/genes/HGNC:23212","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","moderate evidence (08/31/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_007697a5-2f83-40d0-b2ea-914e458a1452-2020-08-31T170000.000Z","Hearing Loss","","",""
"MYH2","HGNC:7572","https://search.clinicalgenome.org/kb/genes/HGNC:7572","myopathy, proximal, and ophthalmoplegia","MONDO:0011577","https://search.clinicalgenome.org/kb/conditions/MONDO:0011577","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","moderate evidence (06/10/2024) | definitive evidence (06/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76685544-e687-4b2e-8656-2960d0324eee-2024-06-10T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba72d803-f94a-4036-88e5-3abae412c0da-2024-06-10T160000.000Z","Congenital Myopathies | Congenital Myopathies","","",""
"MYH6","HGNC:7576","https://search.clinicalgenome.org/kb/genes/HGNC:7576","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","limited evidence (03/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d55ac7b-e9d8-4a97-bb20-92beeffaed96-2025-03-07T170000.000Z","Dilated Cardiomyopathy","","",""
"MYH6","HGNC:7576","https://search.clinicalgenome.org/kb/genes/HGNC:7576","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","disputing (07/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee5380a4-0dee-49aa-b911-141502648144-2023-07-12T020000.000Z","Hereditary Cardiovascular Disease","","",""
"MYH6","HGNC:7576","https://search.clinicalgenome.org/kb/genes/HGNC:7576","MYH-6 related congenital heart defects","MONDO:0800442","https://search.clinicalgenome.org/kb/conditions/MONDO:0800442","Autosomal dominant inheritance","","","","","definitive evidence (05/09/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44f4a5ee-8b1d-44b7-87ca-967968d8c0c4-2023-05-09T040000.000Z","Congenital Heart Disease","","",""
"MYH7","HGNC:7577","https://search.clinicalgenome.org/kb/genes/HGNC:7577","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7577","Dosage Working Group","limited evidence (08/06/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0265f091-a67d-4521-b6bd-5a110bd5356f-2019-08-06T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"MYH7","HGNC:7577","https://search.clinicalgenome.org/kb/genes/HGNC:7577","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7577","Dosage Working Group","definitive evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ec27d4f-70ea-4c6a-ad67-d6260ecadcde-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"MYH7","HGNC:7577","https://search.clinicalgenome.org/kb/genes/HGNC:7577","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7577","Dosage Working Group","definitive evidence (07/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31325c90-05cb-4db0-9372-e4f705cd5c82-2023-07-12T160000.000Z","Hereditary Cardiovascular Disease","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"MYH7","HGNC:7577","https://search.clinicalgenome.org/kb/genes/HGNC:7577","MYH7-related skeletal myopathy","MONDO:0008050","https://search.clinicalgenome.org/kb/conditions/MONDO:0008050","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7577","Dosage Working Group","definitive evidence (05/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8974721a-f333-4fb7-b8b7-043233d3d100-2021-05-13T160000.000Z","Congenital Myopathies","","",""
"MYH7","HGNC:7577","https://search.clinicalgenome.org/kb/genes/HGNC:7577","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7577","Dosage Working Group","limited evidence (02/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9da50d1-a17c-4396-a6e6-632077b277b2-2024-02-12T170000.000Z","Congenital Heart Disease","","",""
"MYH7","HGNC:7577","https://search.clinicalgenome.org/kb/genes/HGNC:7577","familial hypertrophic cardiomyopathy","MONDO:0024573","https://search.clinicalgenome.org/kb/conditions/MONDO:0024573","N/A","0 - No Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7577","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"MYH7","HGNC:7577","https://search.clinicalgenome.org/kb/genes/HGNC:7577","hypertrophic cardiomyopathy 1","MONDO:0008647","https://search.clinicalgenome.org/kb/conditions/MONDO:0008647","N/A","0 - No Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7577","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"MYH9","HGNC:7579","https://search.clinicalgenome.org/kb/genes/HGNC:7579","macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss","MONDO:0015912","https://search.clinicalgenome.org/kb/conditions/MONDO:0015912","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (09/04/2024)","0 - No Evidence for Triplosensitivity (09/04/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7579","Dosage Working Group","definitive evidence (02/20/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6801442-c490-44a0-9a60-84ab5b20f7ac-2018-02-20T050000.000Z","Hearing Loss","","",""
"MYL1","HGNC:7582","https://search.clinicalgenome.org/kb/genes/HGNC:7582","congenital myopathy","MONDO:0019952","https://search.clinicalgenome.org/kb/conditions/MONDO:0019952","Autosomal recessive inheritance","","","","","limited evidence (02/24/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c69fb71-4553-473e-94b7-a8c34af84739-2025-02-24T170000.000Z","Congenital Myopathies","","",""
"MYL2","HGNC:7583","https://search.clinicalgenome.org/kb/genes/HGNC:7583","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/20/2015)","0 - No Evidence for Triplosensitivity (11/20/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7583","Dosage Working Group","no known disease relationship (05/24/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1db17cf-199d-4bd7-9673-e8f06219fc26-2019-05-24T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"MYL2","HGNC:7583","https://search.clinicalgenome.org/kb/genes/HGNC:7583","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/20/2015)","0 - No Evidence for Triplosensitivity (11/20/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7583","Dosage Working Group","limited evidence (05/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8405609b-1664-4849-848e-bec138350c92-2025-05-16T160000.000Z","Dilated Cardiomyopathy","","",""
"MYL2","HGNC:7583","https://search.clinicalgenome.org/kb/genes/HGNC:7583","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/20/2015)","0 - No Evidence for Triplosensitivity (11/20/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7583","Dosage Working Group","definitive evidence (07/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7b25ff6c-3ede-46a3-a637-3eab7aa18569-2021-07-13T154913.625Z","Hypertrophic Cardiomyopathy","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"MYL2","HGNC:7583","https://search.clinicalgenome.org/kb/genes/HGNC:7583","familial hypertrophic cardiomyopathy","MONDO:0024573","https://search.clinicalgenome.org/kb/conditions/MONDO:0024573","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (11/20/2015)","0 - No Evidence for Triplosensitivity (11/20/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7583","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"MYL2","HGNC:7583","https://search.clinicalgenome.org/kb/genes/HGNC:7583","hypertrophic cardiomyopathy 10","MONDO:0012112","https://search.clinicalgenome.org/kb/conditions/MONDO:0012112","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (11/20/2015)","0 - No Evidence for Triplosensitivity (11/20/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7583","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"MYL3","HGNC:7584","https://search.clinicalgenome.org/kb/genes/HGNC:7584","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/18/2015)","0 - No Evidence for Triplosensitivity (11/18/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7584","Dosage Working Group","limited evidence (09/13/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1d5e9bf-ca57-445a-a432-27fe221484bf-2019-09-13T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"MYL3","HGNC:7584","https://search.clinicalgenome.org/kb/genes/HGNC:7584","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/18/2015)","0 - No Evidence for Triplosensitivity (11/18/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7584","Dosage Working Group","disputing (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6fdf5074-f853-473c-bd04-2c95c172b98a-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"MYL3","HGNC:7584","https://search.clinicalgenome.org/kb/genes/HGNC:7584","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/18/2015)","0 - No Evidence for Triplosensitivity (11/18/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7584","Dosage Working Group","definitive evidence (06/07/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d74b9d56-4f2a-4479-8913-1d96ddc28592-2021-06-07T145050.605Z","Hypertrophic Cardiomyopathy","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"MYL3","HGNC:7584","https://search.clinicalgenome.org/kb/genes/HGNC:7584","familial hypertrophic cardiomyopathy","MONDO:0024573","https://search.clinicalgenome.org/kb/conditions/MONDO:0024573","N/A","0 - No Evidence for Haploinsufficiency (11/18/2015)","0 - No Evidence for Triplosensitivity (11/18/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7584","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"MYL3","HGNC:7584","https://search.clinicalgenome.org/kb/genes/HGNC:7584","hypertrophic cardiomyopathy 8","MONDO:0012111","https://search.clinicalgenome.org/kb/conditions/MONDO:0012111","N/A","0 - No Evidence for Haploinsufficiency (11/18/2015)","0 - No Evidence for Triplosensitivity (11/18/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7584","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"MYLK","HGNC:7590","https://search.clinicalgenome.org/kb/genes/HGNC:7590","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (01/14/2016)","0 - No Evidence for Triplosensitivity (01/14/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7590","Dosage Working Group","strong evidence (12/18/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8257","Heritable Thoracic Aortic Aneurysm and Dissection","","",""
"MYLK","HGNC:7590","https://search.clinicalgenome.org/kb/genes/HGNC:7590","aortic aneurysm, familial thoracic 7","MONDO:0013418","https://search.clinicalgenome.org/kb/conditions/MONDO:0013418","N/A","1 - Little Evidence for Haploinsufficiency (01/14/2016)","0 - No Evidence for Triplosensitivity (01/14/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7590","Dosage Working Group","","","","","",""
"MYLK2","HGNC:16243","https://search.clinicalgenome.org/kb/genes/HGNC:16243","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","disputing (02/08/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f0f41e3-7b5b-477c-b45d-598b5f8f3df0-2023-02-08T170000.000Z","Hereditary Cardiovascular Disease","","",""
"MYLK3","HGNC:29826","https://search.clinicalgenome.org/kb/genes/HGNC:29826","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","moderate evidence (07/11/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_713bb7fc-2ae0-488f-acfa-4c0bf963e8bc-2025-07-11T160000.000Z","Dilated Cardiomyopathy","","",""
"MYMK","HGNC:33778","https://search.clinicalgenome.org/kb/genes/HGNC:33778","obsolete Carey-Fineman-Ziter syndrome","MONDO:0009700","https://search.clinicalgenome.org/kb/conditions/MONDO:0009700","Autosomal recessive inheritance","","","","","definitive evidence (04/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_570cb879-d299-41b0-87ba-406bf9567266-2022-04-08T040057.342Z","Syndromic Disorders","","",""
"MYO15A","HGNC:7594","https://search.clinicalgenome.org/kb/genes/HGNC:7594","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7594","Dosage Working Group","definitive evidence (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cf0898e-5e63-4327-9341-fdf26490beee-2017-11-21T170000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MYO15A","HGNC:7594","https://search.clinicalgenome.org/kb/genes/HGNC:7594","autosomal recessive nonsyndromic hearing loss 3","MONDO:0010860","https://search.clinicalgenome.org/kb/conditions/MONDO:0010860","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7594","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MYO15A","HGNC:7594","https://search.clinicalgenome.org/kb/genes/HGNC:7594","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7594","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MYO15A","HGNC:7594","https://search.clinicalgenome.org/kb/genes/HGNC:7594","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7594","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MYO18B","HGNC:18150","https://search.clinicalgenome.org/kb/genes/HGNC:18150","Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome","MONDO:0014689","https://search.clinicalgenome.org/kb/conditions/MONDO:0014689","Autosomal recessive inheritance","","","","","definitive evidence (04/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00998e50-dd3f-4bfa-8500-34d34980d5c8-2025-04-28T160000.000Z","Congenital Myopathies","","",""
"MYO1A","HGNC:7595","https://search.clinicalgenome.org/kb/genes/HGNC:7595","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","refuting evidence (01/16/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3dcc24f7-4cf7-413b-a956-16ad58bcbd36-2018-01-16T170000.000Z","Hearing Loss","","",""
"MYO1C","HGNC:7597","https://search.clinicalgenome.org/kb/genes/HGNC:7597","autosomal dominant nonsyndromic hearing loss","MONDO:0019587","https://search.clinicalgenome.org/kb/conditions/MONDO:0019587","Autosomal dominant inheritance","","","","","disputing (06/26/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f27e3d88-0a3d-44f8-bbbc-1f668e596541-2018-06-26T160000.000Z","Hearing Loss","","",""
"MYO1C","HGNC:7597","https://search.clinicalgenome.org/kb/genes/HGNC:7597","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","disputing (06/26/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f27e3d88-0a3d-44f8-bbbc-1f668e596541-2018-06-26T160000.000Z","Hearing Loss","","",""
"MYO1E","HGNC:7599","https://search.clinicalgenome.org/kb/genes/HGNC:7599","focal segmental glomerulosclerosis 6","MONDO:0013589","https://search.clinicalgenome.org/kb/conditions/MONDO:0013589","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7599","Dosage Working Group","","","","","",""
"MYO1F","HGNC:7600","https://search.clinicalgenome.org/kb/genes/HGNC:7600","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","disputing (10/31/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c422abbd-4f16-4da0-8569-d5d7138be488-2024-10-31T160000.000Z","Hearing Loss","","",""
"MYO3A","HGNC:7601","https://search.clinicalgenome.org/kb/genes/HGNC:7601","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/06/2018)","0 - No Evidence for Triplosensitivity (03/06/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7601","Dosage Working Group","definitive evidence (06/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8fa3d7b-73a2-43a3-8f13-7dac3fd27737-2023-06-01T160000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MYO3A","HGNC:7601","https://search.clinicalgenome.org/kb/genes/HGNC:7601","autosomal recessive nonsyndromic hearing loss 30","MONDO:0011774","https://search.clinicalgenome.org/kb/conditions/MONDO:0011774","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/06/2018)","0 - No Evidence for Triplosensitivity (03/06/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7601","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MYO3A","HGNC:7601","https://search.clinicalgenome.org/kb/genes/HGNC:7601","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/06/2018)","0 - No Evidence for Triplosensitivity (03/06/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7601","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MYO3A","HGNC:7601","https://search.clinicalgenome.org/kb/genes/HGNC:7601","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/06/2018)","0 - No Evidence for Triplosensitivity (03/06/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7601","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MYO5A","HGNC:7602","https://search.clinicalgenome.org/kb/genes/HGNC:7602","Griscelli syndrome type 1","MONDO:0008962","https://search.clinicalgenome.org/kb/conditions/MONDO:0008962","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7602","Dosage Working Group","definitive evidence (07/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_792cf7b2-5ca7-4d85-95a5-a43eaa52b180-2021-07-27T144901.941Z","Syndromic Disorders","","",""
"MYO5B","HGNC:7603","https://search.clinicalgenome.org/kb/genes/HGNC:7603","microvillus inclusion disease","MONDO:0009635","https://search.clinicalgenome.org/kb/conditions/MONDO:0009635","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (04/09/2015)","0 - No Evidence for Triplosensitivity (04/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7603","Dosage Working Group","","","","","",""
"MYO6","HGNC:7605","https://search.clinicalgenome.org/kb/genes/HGNC:7605","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","definitive evidence (02/20/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50d408fe-e298-4683-985c-57a37b30e273-2018-02-20T170000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MYO6","HGNC:7605","https://search.clinicalgenome.org/kb/genes/HGNC:7605","autosomal recessive nonsyndromic hearing loss 37","MONDO:0011912","https://search.clinicalgenome.org/kb/conditions/MONDO:0011912","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MYO6","HGNC:7605","https://search.clinicalgenome.org/kb/genes/HGNC:7605","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MYO6","HGNC:7605","https://search.clinicalgenome.org/kb/genes/HGNC:7605","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"MYO7A","HGNC:7606","https://search.clinicalgenome.org/kb/genes/HGNC:7606","Usher syndrome type 1","MONDO:0010168","https://search.clinicalgenome.org/kb/conditions/MONDO:0010168","Autosomal recessive inheritance","","","","","definitive evidence (06/28/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e897a2f-d4cf-4e13-85d8-f37405a09b18-2018-06-28T160000.000Z","Hearing Loss","","",""
"MYO7A","HGNC:7606","https://search.clinicalgenome.org/kb/genes/HGNC:7606","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","definitive evidence (03/19/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_598b33f0-cdad-4290-b6eb-f9c2304c7bb6-2018-03-19T160000.000Z","Hearing Loss","","",""
"MYO9A","HGNC:7608","https://search.clinicalgenome.org/kb/genes/HGNC:7608","arthrogryposis syndrome","MONDO:0015225","https://search.clinicalgenome.org/kb/conditions/MONDO:0015225","Autosomal recessive inheritance","","","","","limited evidence (11/24/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5465","General Gene Curation","","",""
"MYOC","HGNC:7610","https://search.clinicalgenome.org/kb/genes/HGNC:7610","open-angle glaucoma","MONDO:0005338","https://search.clinicalgenome.org/kb/conditions/MONDO:0005338","Autosomal dominant inheritance","","","","","definitive evidence (02/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe5896cf-ec59-431e-bf95-02de61729269-2022-02-17T170000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"MYOM1","HGNC:7613","https://search.clinicalgenome.org/kb/genes/HGNC:7613","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","disputing (02/23/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ff00fbf-6b20-49cd-8af8-0f6404240db5-2023-02-23T170000.000Z","Hereditary Cardiovascular Disease","","",""
"MYOZ2","HGNC:1330","https://search.clinicalgenome.org/kb/genes/HGNC:1330","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","disputing (10/27/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d74395ba-66ee-43c6-8d3c-c353bd8e5e82-2022-10-27T160000.000Z","Hereditary Cardiovascular Disease","","",""
"MYPN","HGNC:23246","https://search.clinicalgenome.org/kb/genes/HGNC:23246","MYPN-related myopathy","MONDO:0015023","https://search.clinicalgenome.org/kb/conditions/MONDO:0015023","Autosomal recessive inheritance","","","","","definitive evidence (06/17/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6aeb67cc-c960-4511-a708-b0acadb34588-2020-06-17T194636.472Z","Congenital Myopathies","","",""
"MYPN","HGNC:23246","https://search.clinicalgenome.org/kb/genes/HGNC:23246","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","disputing (06/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d992d892-856b-4f25-bab1-997f6493018c-2023-06-14T160000.000Z","Hereditary Cardiovascular Disease","","",""
"MYPN","HGNC:23246","https://search.clinicalgenome.org/kb/genes/HGNC:23246","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","limited evidence (03/05/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ffd924ad-55ce-4b05-8a91-584ef49b4e80-2025-03-05T050000.000Z","Dilated Cardiomyopathy","","",""
"MYSM1","HGNC:29401","https://search.clinicalgenome.org/kb/genes/HGNC:29401","bone marrow failure syndrome 4","MONDO:0020856","https://search.clinicalgenome.org/kb/conditions/MONDO:0020856","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/30/2025)","0 - No Evidence for Triplosensitivity (05/30/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29401","Dosage Working Group","definitive evidence (06/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee22e44c-4239-47f4-b971-c8b5012b8a1c-2024-06-07T170000.000Z","SCID-CID","","",""
"MYT1L","HGNC:7623","https://search.clinicalgenome.org/kb/genes/HGNC:7623","intellectual disability, autosomal dominant 39","MONDO:0014678","https://search.clinicalgenome.org/kb/conditions/MONDO:0014678","N/A","3 - Sufficient Evidence for Haploinsufficiency (03/09/2017)","0 - No Evidence for Triplosensitivity (03/09/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7623","Dosage Working Group","","","","","",""
"MYZAP","HGNC:43444","https://search.clinicalgenome.org/kb/genes/HGNC:43444","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","moderate evidence (08/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_587dc3e6-fc9e-4802-8370-cbff25731f45-2024-08-23T160000.000Z","Dilated Cardiomyopathy","","",""
"NAA10","HGNC:18704","https://search.clinicalgenome.org/kb/genes/HGNC:18704","NAA10-related syndrome","MONDO:0100124","https://search.clinicalgenome.org/kb/conditions/MONDO:0100124","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (08/09/2022)","0 - No Evidence for Triplosensitivity (08/09/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18704","Dosage Working Group","definitive evidence (09/01/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcdd3d02-82f3-4ea3-a2b0-8ac2d4c40b1b-2020-09-01T220000.000Z","Intellectual Disability and Autism","","",""
"NAA15","HGNC:30782","https://search.clinicalgenome.org/kb/genes/HGNC:30782","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/13/2021)","0 - No Evidence for Triplosensitivity (04/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30782","Dosage Working Group","definitive evidence (01/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f9732e0c-1306-4fb5-b1b3-873258903e75-2022-01-05T170000.000Z","Intellectual Disability and Autism","","",""
"NACC1","HGNC:20967","https://search.clinicalgenome.org/kb/genes/HGNC:20967","NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability","MONDO:0800475","https://search.clinicalgenome.org/kb/conditions/MONDO:0800475","Autosomal dominant inheritance","","","","","definitive evidence (10/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd05706d-fd13-4f5e-9063-f49d7bbefd97-2023-10-04T160000.000Z","Intellectual Disability and Autism","","",""
"NADK2","HGNC:26404","https://search.clinicalgenome.org/kb/genes/HGNC:26404","progressive encephalopathy with leukodystrophy due to DECR deficiency","MONDO:0014464","https://search.clinicalgenome.org/kb/conditions/MONDO:0014464","Autosomal recessive inheritance","","","","","moderate evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_285bdfcd-10c2-48f9-9be9-d77894b26f19-2025-05-30T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"NAF1","HGNC:25126","https://search.clinicalgenome.org/kb/genes/HGNC:25126","pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7","MONDO:0957261","https://search.clinicalgenome.org/kb/conditions/MONDO:0957261","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (08/20/2024)","0 - No Evidence for Triplosensitivity (08/20/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25126","Dosage Working Group","definitive evidence (03/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40f2a012-9098-4d27-9080-655ff76a1827-2025-03-18T100000.000Z","Interstitial Lung Disease","","",""
"NAF1","HGNC:25126","https://search.clinicalgenome.org/kb/genes/HGNC:25126","pulmonary fibrosis and/or bone marrow failure, telomere-related","MONDO:0000148","https://search.clinicalgenome.org/kb/conditions/MONDO:0000148","N/A","1 - Little Evidence for Haploinsufficiency (08/20/2024)","0 - No Evidence for Triplosensitivity (08/20/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25126","Dosage Working Group","","","","","",""
"NAGA","HGNC:7631","https://search.clinicalgenome.org/kb/genes/HGNC:7631","alpha-N-acetylgalactosaminidase deficiency","MONDO:0017779","https://search.clinicalgenome.org/kb/conditions/MONDO:0017779","Autosomal recessive inheritance","","","","","definitive evidence (09/29/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94962878-05e3-4cc0-a6d7-e9cd86f49b1d-2022-09-29T160000.000Z","Lysosomal Diseases GCEP","","",""
"NAGLU","HGNC:7632","https://search.clinicalgenome.org/kb/genes/HGNC:7632","mucopolysaccharidosis type 3B","MONDO:0009656","https://search.clinicalgenome.org/kb/conditions/MONDO:0009656","Autosomal recessive inheritance","","","","","definitive evidence (08/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ee5629a-f6c2-4187-a802-d570f7180478-2022-08-22T160000.000Z","Lysosomal Diseases GCEP","","",""
"NAGS","HGNC:17996","https://search.clinicalgenome.org/kb/genes/HGNC:17996","hyperammonemia due to N-acetylglutamate synthase deficiency","MONDO:0009377","https://search.clinicalgenome.org/kb/conditions/MONDO:0009377","Autosomal recessive inheritance","","","","","definitive evidence (07/26/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33dcead1-e3d9-4427-98fd-05a655c8c213-2019-07-26T160000.000Z","Aminoacidopathy","Moderate Actionability (01/03/2023) | Strong Actionability (01/03/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1056 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1056"," | "
"NARS1","HGNC:7643","https://search.clinicalgenome.org/kb/genes/HGNC:7643","neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities","MONDO:0030837","https://search.clinicalgenome.org/kb/conditions/MONDO:0030837","Autosomal dominant inheritance","","","","","moderate evidence (03/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_42f31685-bea9-4543-9aef-ed80859be363-2024-03-06T170000.000Z","Syndromic Disorders","","",""
"NARS1","HGNC:7643","https://search.clinicalgenome.org/kb/genes/HGNC:7643","neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities","MONDO:0100348","https://search.clinicalgenome.org/kb/conditions/MONDO:0100348","Autosomal recessive inheritance","","","","","moderate evidence (03/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c46ba676-3297-4e2c-a88f-bc479c32de60-2024-03-06T170000.000Z","Syndromic Disorders","","",""
"NARS2","HGNC:26274","https://search.clinicalgenome.org/kb/genes/HGNC:26274","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (12/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8874861d-9d28-440d-a751-54c22df0d4ad-2019-12-19T190722.572Z","Mitochondrial Diseases","","",""
"NARS2","HGNC:26274","https://search.clinicalgenome.org/kb/genes/HGNC:26274","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","limited evidence (11/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9db16e79-4c14-437f-9723-749f99053d5c-2021-11-17T170000.000Z","Hearing Loss","","",""
"NAT8L","HGNC:26742","https://search.clinicalgenome.org/kb/genes/HGNC:26742","N-acetylaspartate deficiency","MONDO:0013549","https://search.clinicalgenome.org/kb/conditions/MONDO:0013549","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26742","Dosage Working Group","limited evidence (03/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_854ce0ef-7744-483d-87c7-b2dc436f9f0f-2024-03-29T160000.000Z","Aminoacidopathy","","",""
"NAXD","HGNC:25576","https://search.clinicalgenome.org/kb/genes/HGNC:25576","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (02/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb15469f-f6a5-4f4e-b434-267c88c04fe3-2024-02-22T170000.000Z","Mitochondrial Diseases","","",""
"NAXE","HGNC:18453","https://search.clinicalgenome.org/kb/genes/HGNC:18453","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (04/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a062b287-a561-4c3e-942a-3379dee307c8-2021-04-09T142130.880Z","Mitochondrial Diseases","","",""
"NBAS","HGNC:15625","https://search.clinicalgenome.org/kb/genes/HGNC:15625","short stature-optic atrophy-Pelger-Huët anomaly syndrome","MONDO:0013889","https://search.clinicalgenome.org/kb/conditions/MONDO:0013889","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15625","Dosage Working Group","","","","","",""
"NBEA","HGNC:7648","https://search.clinicalgenome.org/kb/genes/HGNC:7648","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/26/2019)","0 - No Evidence for Triplosensitivity (06/26/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7648","Dosage Working Group","definitive evidence (12/02/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f40357db-6cc2-4240-8771-1206cd27298a-2020-12-02T170000.000Z","Intellectual Disability and Autism","","",""
"NBEAL2","HGNC:31928","https://search.clinicalgenome.org/kb/genes/HGNC:31928","gray platelet syndrome","MONDO:0007686","https://search.clinicalgenome.org/kb/conditions/MONDO:0007686","Autosomal recessive inheritance","","","","","definitive evidence (06/26/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae8bd4d6-8810-423b-83e0-98667f06426d-2019-06-26T160000.000Z","Hemostasis Thrombosis","","",""
"NBN","HGNC:7652","https://search.clinicalgenome.org/kb/genes/HGNC:7652","Nijmegen breakage syndrome","MONDO:0009623","https://search.clinicalgenome.org/kb/conditions/MONDO:0009623","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/10/2024)","0 - No Evidence for Triplosensitivity (04/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7652","Dosage Working Group","definitive evidence (06/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de6fa1fe-a86e-4f0d-8da8-7690debe9aec-2022-06-21T170000.000Z","Hereditary Cancer","","",""
"NBN","HGNC:7652","https://search.clinicalgenome.org/kb/genes/HGNC:7652","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/10/2024)","0 - No Evidence for Triplosensitivity (04/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7652","Dosage Working Group","refuting evidence (03/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc101ed8-f6ae-49b8-8850-384da62eb9b9-2023-03-14T170000.000Z","Hereditary Cancer","","",""
"NCAPG2","HGNC:21904","https://search.clinicalgenome.org/kb/genes/HGNC:21904","Khan-Khan-Katsanis syndrome","MONDO:0032764","https://search.clinicalgenome.org/kb/conditions/MONDO:0032764","Autosomal recessive inheritance","","","","","limited evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47881134-f959-48b9-a66c-25bb1456e5a8-2023-05-30T160000.000Z","Syndromic Disorders","","",""
"NCF1","HGNC:7660","https://search.clinicalgenome.org/kb/genes/HGNC:7660","granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1","MONDO:0009309","https://search.clinicalgenome.org/kb/conditions/MONDO:0009309","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (10/10/2012)","0 - No Evidence for Triplosensitivity (10/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7660","Dosage Working Group","","","","","",""
"NCF2","HGNC:7661","https://search.clinicalgenome.org/kb/genes/HGNC:7661","granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2","MONDO:0009310","https://search.clinicalgenome.org/kb/conditions/MONDO:0009310","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7661","Dosage Working Group","","","","","",""
"NCF4","HGNC:7662","https://search.clinicalgenome.org/kb/genes/HGNC:7662","granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3","MONDO:0013507","https://search.clinicalgenome.org/kb/conditions/MONDO:0013507","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7662","Dosage Working Group","","","","","",""
"NCKAP1","HGNC:7666","https://search.clinicalgenome.org/kb/genes/HGNC:7666","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/27/2017)","0 - No Evidence for Triplosensitivity (12/27/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7666","Dosage Working Group","definitive evidence (12/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd76936d-edb5-4c9b-9727-eb8e568f3ed2-2023-12-06T070000.000Z","Intellectual Disability and Autism","","",""
"NDE1","HGNC:17619","https://search.clinicalgenome.org/kb/genes/HGNC:17619","microcephaly with lissencephaly and/or hydranencephaly","MONDO:0700116","https://search.clinicalgenome.org/kb/conditions/MONDO:0700116","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/29/2016)","0 - No Evidence for Triplosensitivity (04/29/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17619","Dosage Working Group","definitive evidence (12/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1661eceb-99dd-41d1-9253-6378595732cb-2024-12-10T180000.000Z","Brain Malformations","","",""
"NDE1","HGNC:17619","https://search.clinicalgenome.org/kb/genes/HGNC:17619","lissencephaly 4","MONDO:0013527","https://search.clinicalgenome.org/kb/conditions/MONDO:0013527","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (04/29/2016)","0 - No Evidence for Triplosensitivity (04/29/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17619","Dosage Working Group","","","","","",""
"NDP","HGNC:7678","https://search.clinicalgenome.org/kb/genes/HGNC:7678","Norrie disease","MONDO:0010691","https://search.clinicalgenome.org/kb/conditions/MONDO:0010691","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/14/2012)","0 - No Evidence for Triplosensitivity (06/14/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7678","Dosage Working Group","definitive evidence (03/21/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_335ce5aa-7f87-4b91-a447-928399f40f11-2018-03-21T160000.000Z","Intellectual Disability and Autism","","",""
"NDRG1","HGNC:7679","https://search.clinicalgenome.org/kb/genes/HGNC:7679","Charcot-Marie-Tooth disease type 4D","MONDO:0011085","https://search.clinicalgenome.org/kb/conditions/MONDO:0011085","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7679","Dosage Working Group","","","","","",""
"NDUFA1","HGNC:7683","https://search.clinicalgenome.org/kb/genes/HGNC:7683","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","X-linked inheritance","0 - No Evidence for Haploinsufficiency (07/25/2012)","0 - No Evidence for Triplosensitivity (07/25/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7683","Dosage Working Group","moderate evidence (05/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_497170a6-a042-46cb-9809-3c3094fcd05e-2019-05-20T184847.372Z","Mitochondrial Diseases","","",""
"NDUFA10","HGNC:7684","https://search.clinicalgenome.org/kb/genes/HGNC:7684","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7684","Dosage Working Group","limited evidence (11/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e40eec3c-0ce0-442e-9058-6bf4d90d6dc3-2019-11-25T162049.949Z","Mitochondrial Diseases","","",""
"NDUFA10","HGNC:7684","https://search.clinicalgenome.org/kb/genes/HGNC:7684","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7684","Dosage Working Group","moderate evidence (11/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1abd1440-686c-4bc9-91fb-59f7191891dd-2023-11-06T050000.000Z","Mitochondrial Diseases","","",""
"NDUFA11","HGNC:20371","https://search.clinicalgenome.org/kb/genes/HGNC:20371","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","limited evidence (02/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_210108ec-da38-4a32-80b6-8d88f4d22677-2022-02-17T050000.000Z","Mitochondrial Diseases","","",""
"NDUFA12","HGNC:23987","https://search.clinicalgenome.org/kb/genes/HGNC:23987","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (11/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81f38f43-5e0c-4cb8-9be8-091f2c8a2c71-2019-11-25T160815.348Z","Mitochondrial Diseases","","",""
"NDUFA13","HGNC:17194","https://search.clinicalgenome.org/kb/genes/HGNC:17194","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (01/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0bc56951-c454-4e79-95f3-7ffda20482b7-2021-01-21T005411.435Z","Mitochondrial Diseases","","",""
"NDUFA2","HGNC:7685","https://search.clinicalgenome.org/kb/genes/HGNC:7685","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (05/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f40eb04-1cc3-477c-ab0a-c8162958fd4f-2019-05-20T190623.871Z","Mitochondrial Diseases","","",""
"NDUFA2","HGNC:7685","https://search.clinicalgenome.org/kb/genes/HGNC:7685","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (08/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_846591ba-d5d5-40fb-b769-9fbb6fcad98b-2023-08-07T040000.000Z","Mitochondrial Diseases","","",""
"NDUFA8","HGNC:7692","https://search.clinicalgenome.org/kb/genes/HGNC:7692","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (01/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34368748-ec12-4b2a-8bfc-3d81b7583033-2024-01-18T050000.000Z","Mitochondrial Diseases","","",""
"NDUFA9","HGNC:7693","https://search.clinicalgenome.org/kb/genes/HGNC:7693","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (11/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_87c6c5c5-7bf7-4bd2-94f0-2d529a512e74-2019-11-25T162851.567Z","Mitochondrial Diseases","","",""
"NDUFAF1","HGNC:18828","https://search.clinicalgenome.org/kb/genes/HGNC:18828","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18828","Dosage Working Group","moderate evidence (02/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20bd44f6-360d-42ef-ba08-549773282d2e-2022-02-17T170000.000Z","Mitochondrial Diseases","","",""
"NDUFAF1","HGNC:18828","https://search.clinicalgenome.org/kb/genes/HGNC:18828","mitochondrial complex I deficiency, nuclear type 1","MONDO:0100224","https://search.clinicalgenome.org/kb/conditions/MONDO:0100224","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18828","Dosage Working Group","","","","","",""
"NDUFAF2","HGNC:28086","https://search.clinicalgenome.org/kb/genes/HGNC:28086","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28086","Dosage Working Group","definitive evidence (11/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c26c06d-17dc-4783-8145-5de35c9a73f5-2020-11-23T193634.959Z","Mitochondrial Diseases","","",""
"NDUFAF2","HGNC:28086","https://search.clinicalgenome.org/kb/genes/HGNC:28086","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28086","Dosage Working Group","definitive evidence (12/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b847632a-2f40-4d6b-a741-b2d1da3d55c5-2023-12-18T050000.000Z","Mitochondrial Diseases","","",""
"NDUFAF3","HGNC:29918","https://search.clinicalgenome.org/kb/genes/HGNC:29918","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (03/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbdf3ba5-37d8-447d-888b-2762701bab49-2022-03-07T050000.000Z","Mitochondrial Diseases","","",""
"NDUFAF4","HGNC:21034","https://search.clinicalgenome.org/kb/genes/HGNC:21034","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (02/12/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2df4e73b-a8a5-4ce2-bab6-2be732d3c542-2020-02-12T194734.160Z","Mitochondrial Diseases","","",""
"NDUFAF4","HGNC:21034","https://search.clinicalgenome.org/kb/genes/HGNC:21034","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (09/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_71a1604a-d6dd-4385-a6be-663fe3c3a6d0-2023-09-06T040000.000Z","Mitochondrial Diseases","","",""
"NDUFAF5","HGNC:15899","https://search.clinicalgenome.org/kb/genes/HGNC:15899","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15899","Dosage Working Group","definitive evidence (04/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_55a2c102-f05d-4ff1-9527-3a55fb3f00c3-2021-04-09T135236.631Z","Mitochondrial Diseases","","",""
"NDUFAF5","HGNC:15899","https://search.clinicalgenome.org/kb/genes/HGNC:15899","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15899","Dosage Working Group","definitive evidence (01/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90482ccc-5a6c-40d1-a7ea-d8a78971ac44-2024-01-18T170000.000Z","Mitochondrial Diseases","","",""
"NDUFAF5","HGNC:15899","https://search.clinicalgenome.org/kb/genes/HGNC:15899","mitochondrial complex I deficiency, nuclear type 1","MONDO:0100224","https://search.clinicalgenome.org/kb/conditions/MONDO:0100224","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15899","Dosage Working Group","","","","","",""
"NDUFAF6","HGNC:28625","https://search.clinicalgenome.org/kb/genes/HGNC:28625","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","definitive evidence (11/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7b6ace1-5b89-41c7-83a6-d6f37826d8c5-2020-11-23T194212.660Z","Mitochondrial Diseases","","",""
"NDUFAF6","HGNC:28625","https://search.clinicalgenome.org/kb/genes/HGNC:28625","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (06/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9f5bc35-3a3e-481c-86f4-8dd909642f7e-2024-06-20T160000.000Z","Mitochondrial Diseases","","",""
"NDUFAF8","HGNC:33551","https://search.clinicalgenome.org/kb/genes/HGNC:33551","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (04/01/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3459bec0-88a8-463b-a135-54670357137a-2021-04-01T195856.777Z","Mitochondrial Diseases","","",""
"NDUFB10","HGNC:7696","https://search.clinicalgenome.org/kb/genes/HGNC:7696","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (02/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bff63e5-63a2-44fe-9a3e-561442d9c931-2022-02-07T170000.000Z","Mitochondrial Diseases","","",""
"NDUFB11","HGNC:20372","https://search.clinicalgenome.org/kb/genes/HGNC:20372","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","X-linked inheritance","","","","","definitive evidence (01/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b349c412-dba4-4b4d-91ba-47d72f8f910f-2022-01-20T170000.000Z","Mitochondrial Diseases","","",""
"NDUFB3","HGNC:7698","https://search.clinicalgenome.org/kb/genes/HGNC:7698","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7698","Dosage Working Group","definitive evidence (02/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d93728e-eda7-4f4a-bd64-a1f545476ee8-2022-02-07T170000.000Z","Mitochondrial Diseases","","",""
"NDUFB3","HGNC:7698","https://search.clinicalgenome.org/kb/genes/HGNC:7698","mitochondrial complex I deficiency, nuclear type 1","MONDO:0100224","https://search.clinicalgenome.org/kb/conditions/MONDO:0100224","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7698","Dosage Working Group","","","","","",""
"NDUFB8","HGNC:7703","https://search.clinicalgenome.org/kb/genes/HGNC:7703","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (01/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bef2c930-4b79-4938-8325-94a0f58cdfd9-2021-01-21T004458.566Z","Mitochondrial Diseases","","",""
"NDUFC2","HGNC:7706","https://search.clinicalgenome.org/kb/genes/HGNC:7706","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (01/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d819bce-43ed-45a3-a16b-74033d432272-2021-01-21T004055.963Z","Mitochondrial Diseases","","",""
"NDUFC2","HGNC:7706","https://search.clinicalgenome.org/kb/genes/HGNC:7706","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (12/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba9a01a8-3b86-420f-a7e8-a43898cab9fa-2023-12-18T050000.000Z","Mitochondrial Diseases","","",""
"NDUFS1","HGNC:7707","https://search.clinicalgenome.org/kb/genes/HGNC:7707","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","definitive evidence (06/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6995e66-f840-485a-a635-b64cb9f45cd9-2019-06-20T161718.750Z","Mitochondrial Diseases","","",""
"NDUFS1","HGNC:7707","https://search.clinicalgenome.org/kb/genes/HGNC:7707","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (11/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_048cc8f0-7d27-4108-ada2-5454791c0bc5-2023-11-06T050000.000Z","Mitochondrial Diseases","","",""
"NDUFS2","HGNC:7708","https://search.clinicalgenome.org/kb/genes/HGNC:7708","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","definitive evidence (04/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6df726c1-2897-46f8-aed1-f9939b9acf0c-2021-04-09T143144.546Z","Mitochondrial Diseases","","",""
"NDUFS2","HGNC:7708","https://search.clinicalgenome.org/kb/genes/HGNC:7708","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (01/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3546f79c-056b-4087-88f0-99e97ad1bd4b-2024-01-18T170000.000Z","Mitochondrial Diseases","","",""
"NDUFS3","HGNC:7710","https://search.clinicalgenome.org/kb/genes/HGNC:7710","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (06/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ae2af25-4fc1-48c3-a289-fae04977b192-2019-06-20T162502.779Z","Mitochondrial Diseases","","",""
"NDUFS4","HGNC:7711","https://search.clinicalgenome.org/kb/genes/HGNC:7711","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7711","Dosage Working Group","definitive evidence (04/08/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ed6ae7f-8c64-4ca3-a71b-6e97ae21d71d-2019-04-08T162953.550Z","Mitochondrial Diseases","","",""
"NDUFS4","HGNC:7711","https://search.clinicalgenome.org/kb/genes/HGNC:7711","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7711","Dosage Working Group","definitive evidence (12/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc39144a-f17d-45b9-b9a9-91cf52e01f08-2023-12-04T050000.000Z","Mitochondrial Diseases","","",""
"NDUFS4","HGNC:7711","https://search.clinicalgenome.org/kb/genes/HGNC:7711","mitochondrial complex I deficiency, nuclear type 1","MONDO:0100224","https://search.clinicalgenome.org/kb/conditions/MONDO:0100224","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7711","Dosage Working Group","","","","","",""
"NDUFS6","HGNC:7713","https://search.clinicalgenome.org/kb/genes/HGNC:7713","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7713","Dosage Working Group","definitive evidence (01/31/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_04cdc50a-1ce4-410e-88bb-9d75ed33bb46-2022-01-31T050000.000Z","Mitochondrial Diseases","","",""
"NDUFS6","HGNC:7713","https://search.clinicalgenome.org/kb/genes/HGNC:7713","mitochondrial complex I deficiency, nuclear type 1","MONDO:0100224","https://search.clinicalgenome.org/kb/conditions/MONDO:0100224","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7713","Dosage Working Group","","","","","",""
"NDUFS7","HGNC:7714","https://search.clinicalgenome.org/kb/genes/HGNC:7714","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7714","Dosage Working Group","moderate evidence (11/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b702a150-de60-429e-bb12-ba8cde1483e7-2019-11-25T160008.570Z","Mitochondrial Diseases","","",""
"NDUFS7","HGNC:7714","https://search.clinicalgenome.org/kb/genes/HGNC:7714","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7714","Dosage Working Group","definitive evidence (04/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64c32007-a9f5-4bf4-8694-8aba531341bf-2024-04-15T040000.000Z","Mitochondrial Diseases","","",""
"NDUFS8","HGNC:7715","https://search.clinicalgenome.org/kb/genes/HGNC:7715","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7715","Dosage Working Group","moderate evidence (11/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01a27520-f92a-4b81-b63b-c15132c873be-2019-11-25T152406.734Z","Mitochondrial Diseases","","",""
"NDUFS8","HGNC:7715","https://search.clinicalgenome.org/kb/genes/HGNC:7715","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7715","Dosage Working Group","definitive evidence (11/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6764a20-2ddc-4ede-9173-409b0ae18c18-2023-11-06T050000.000Z","Mitochondrial Diseases","","",""
"NDUFV1","HGNC:7716","https://search.clinicalgenome.org/kb/genes/HGNC:7716","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/22/2012)","0 - No Evidence for Triplosensitivity (03/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7716","Dosage Working Group","definitive evidence (11/26/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b96e332-59c4-4636-8bdf-bf893ea059f1-2019-11-26T163430.120Z","Mitochondrial Diseases","","",""
"NDUFV1","HGNC:7716","https://search.clinicalgenome.org/kb/genes/HGNC:7716","mitochondrial complex I deficiency, nuclear type 1","MONDO:0100224","https://search.clinicalgenome.org/kb/conditions/MONDO:0100224","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/22/2012)","0 - No Evidence for Triplosensitivity (03/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7716","Dosage Working Group","","","","","",""
"NDUFV2","HGNC:7717","https://search.clinicalgenome.org/kb/genes/HGNC:7717","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7717","Dosage Working Group","limited evidence (11/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1266aed1-8c25-4b28-bf8a-a0e16d9b3da9-2019-11-25T145748.766Z","Mitochondrial Diseases","","",""
"NDUFV2","HGNC:7717","https://search.clinicalgenome.org/kb/genes/HGNC:7717","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7717","Dosage Working Group","definitive evidence (12/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a5b5d66-4640-48a8-ac99-842593bac366-2023-12-04T050000.000Z","Mitochondrial Diseases","","",""
"NDUFV2","HGNC:7717","https://search.clinicalgenome.org/kb/genes/HGNC:7717","mitochondrial complex I deficiency, nuclear type 1","MONDO:0100224","https://search.clinicalgenome.org/kb/conditions/MONDO:0100224","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7717","Dosage Working Group","","","","","",""
"NEB","HGNC:7720","https://search.clinicalgenome.org/kb/genes/HGNC:7720","nemaline myopathy 2","MONDO:0009725","https://search.clinicalgenome.org/kb/conditions/MONDO:0009725","Autosomal recessive inheritance","","","","","definitive evidence (10/21/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_796dd762-f35c-425a-be3f-05424324ade0-2019-10-21T160000.000Z","Congenital Myopathies","","",""
"NEB","HGNC:7720","https://search.clinicalgenome.org/kb/genes/HGNC:7720","autosomal dominant nebulin-related myopathy","MONDO:1010152","https://search.clinicalgenome.org/kb/conditions/MONDO:1010152","Autosomal dominant inheritance","","","","","moderate evidence (03/11/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c47ca02-4d1a-492a-9836-d7db52a8af3d-2025-03-11T160000.000Z","Congenital Myopathies","","",""
"NEBL","HGNC:16932","https://search.clinicalgenome.org/kb/genes/HGNC:16932","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (12/21/2011)","0 - No Evidence for Triplosensitivity (12/21/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16932","Dosage Working Group","limited evidence (10/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29bc6c4f-3f2d-45e2-b796-a79616857094-2024-10-18T160000.000Z","Dilated Cardiomyopathy","","",""
"NECAP1","HGNC:24539","https://search.clinicalgenome.org/kb/genes/HGNC:24539","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","","","","","moderate evidence (01/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8fa4d835-8c26-4b30-9f26-7b6fb64d6a0b-2023-01-17T200000.000Z","Epilepsy","","",""
"NECTIN1","HGNC:9706","https://search.clinicalgenome.org/kb/genes/HGNC:9706","cleft lip/palate-ectodermal dysplasia syndrome","MONDO:0009151","https://search.clinicalgenome.org/kb/conditions/MONDO:0009151","Autosomal recessive inheritance","","","","","definitive evidence (06/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1264fce-e800-4f7d-8395-543d2e266d02-2024-06-20T160000.000Z","Craniofacial Malformations","","",""
"NEDD4L","HGNC:7728","https://search.clinicalgenome.org/kb/genes/HGNC:7728","periventricular nodular heterotopia 7","MONDO:0014966","https://search.clinicalgenome.org/kb/conditions/MONDO:0014966","Autosomal dominant inheritance","","","","","definitive evidence (11/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b131d46a-069b-4c2e-a290-e7df2519a2df-2021-11-30T170000.000Z","Brain Malformations","","",""
"NEDD9","HGNC:7733","https://search.clinicalgenome.org/kb/genes/HGNC:7733","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (02/27/2019)","0 - No Evidence for Triplosensitivity (02/27/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7733","Dosage Working Group","","","","","",""
"NEFH","HGNC:7737","https://search.clinicalgenome.org/kb/genes/HGNC:7737","Charcot-Marie-Tooth disease axonal type 2CC","MONDO:0014836","https://search.clinicalgenome.org/kb/conditions/MONDO:0014836","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/08/2025)","0 - No Evidence for Triplosensitivity (07/08/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7737","Dosage Working Group","definitive evidence (10/05/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e1390ea-fd6c-4fa4-9b43-0eccff9e2829-2020-10-05T161645.817Z","Charcot-Marie-Tooth","","",""
"NEFH","HGNC:7737","https://search.clinicalgenome.org/kb/genes/HGNC:7737","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/08/2025)","0 - No Evidence for Triplosensitivity (07/08/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7737","Dosage Working Group","limited evidence (03/23/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c71deac-6b11-4947-8834-8391d516a9c9-2023-03-23T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"NEFL","HGNC:7739","https://search.clinicalgenome.org/kb/genes/HGNC:7739","Charcot-Marie-Tooth disease type 2","MONDO:0018993","https://search.clinicalgenome.org/kb/conditions/MONDO:0018993","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (09/17/2018)","0 - No Evidence for Triplosensitivity (09/17/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7739","Dosage Working Group","definitive evidence (01/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49d4cf82-b365-456e-9e35-2b28a66b71ec-2023-01-10T170000.000Z","Charcot-Marie-Tooth","","",""
"NEFL","HGNC:7739","https://search.clinicalgenome.org/kb/genes/HGNC:7739","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/17/2018)","0 - No Evidence for Triplosensitivity (09/17/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7739","Dosage Working Group","definitive evidence (01/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57ec533a-b1cb-4d1d-b12a-61ee6ac6ab07-2023-01-10T170000.000Z","Charcot-Marie-Tooth","","",""
"NEFL","HGNC:7739","https://search.clinicalgenome.org/kb/genes/HGNC:7739","Charcot-Marie-Tooth disease type 1","MONDO:0019011","https://search.clinicalgenome.org/kb/conditions/MONDO:0019011","N/A","0 - No Evidence for Haploinsufficiency (09/17/2018)","0 - No Evidence for Triplosensitivity (09/17/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7739","Dosage Working Group","","","","Limited Actionability (03/19/2024) | Moderate Actionability (03/19/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC129 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC129"," | "
"NEFL","HGNC:7739","https://search.clinicalgenome.org/kb/genes/HGNC:7739","Charcot-Marie-Tooth disease type 1F","MONDO:0011902","https://search.clinicalgenome.org/kb/conditions/MONDO:0011902","N/A","0 - No Evidence for Haploinsufficiency (09/17/2018)","0 - No Evidence for Triplosensitivity (09/17/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7739","Dosage Working Group","","","","Limited Actionability (03/19/2024) | Moderate Actionability (03/19/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC129 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC129"," | "
"NEK1","HGNC:7744","https://search.clinicalgenome.org/kb/genes/HGNC:7744","amyotrophic lateral sclerosis, susceptibility to, 24","MONDO:0054750","https://search.clinicalgenome.org/kb/conditions/MONDO:0054750","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/01/2013)","0 - No Evidence for Triplosensitivity (08/01/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7744","Dosage Working Group","definitive evidence (04/29/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb4f311c-df33-4d9e-8ac6-731b43b93615-2022-04-29T192526.542Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"NEK1","HGNC:7744","https://search.clinicalgenome.org/kb/genes/HGNC:7744","short-rib thoracic dysplasia 6 with or without polydactyly","MONDO:0009894","https://search.clinicalgenome.org/kb/conditions/MONDO:0009894","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/01/2013)","0 - No Evidence for Triplosensitivity (08/01/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7744","Dosage Working Group","","","","","",""
"NEK10","HGNC:18592","https://search.clinicalgenome.org/kb/genes/HGNC:18592","ciliary dyskinesia, primary, 44","MONDO:0032914","https://search.clinicalgenome.org/kb/conditions/MONDO:0032914","Autosomal recessive inheritance","","","","","definitive evidence (10/17/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72a2f8fa-ee83-48cc-93fa-22a8990c8d13-2025-10-17T190000.000Z","Motile Ciliopathy GCEP","","",""
"NEK8","HGNC:13387","https://search.clinicalgenome.org/kb/genes/HGNC:13387","renal-hepatic-pancreatic dysplasia 2","MONDO:0014174","https://search.clinicalgenome.org/kb/conditions/MONDO:0014174","Autosomal recessive inheritance","","","","","definitive evidence (09/08/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6888a91a-6589-42a9-9622-553b4918bed6-2021-09-08T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"NEK8","HGNC:13387","https://search.clinicalgenome.org/kb/genes/HGNC:13387","autosomal dominant polycystic kidney disease","MONDO:0004691","https://search.clinicalgenome.org/kb/conditions/MONDO:0004691","Autosomal dominant inheritance","","","","","strong evidence (01/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32e19522-798c-4c32-a1f7-0cc42660b510-2024-01-08T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"NEMF","HGNC:10663","https://search.clinicalgenome.org/kb/genes/HGNC:10663","intellectual developmental disorder with speech delay and axonal peripheral neuropathy","MONDO:0030849","https://search.clinicalgenome.org/kb/conditions/MONDO:0030849","Autosomal recessive inheritance","","","","","strong evidence (10/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67f2bf82-cc3e-4006-a8e6-3f6f1dcb2513-2023-10-04T160000.000Z","Syndromic Disorders","","",""
"NEU1","HGNC:7758","https://search.clinicalgenome.org/kb/genes/HGNC:7758","sialidosis","MONDO:0017734","https://search.clinicalgenome.org/kb/conditions/MONDO:0017734","Autosomal recessive inheritance","","","","","definitive evidence (04/11/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01f588c4-4fef-493d-b5e0-a76fb9492244-2025-04-11T160000.000Z","Lysosomal Diseases GCEP","","",""
"NEUROD1","HGNC:7762","https://search.clinicalgenome.org/kb/genes/HGNC:7762","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Autosomal recessive inheritance | Autosomal dominant inheritance","","","","","moderate evidence (03/10/2021) | limited evidence (10/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9ace1b58-44d4-4479-9328-0871a8fb0e9f-2021-03-10T172754.003Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f4e7f54-becc-432e-9827-514c783e6bc1-2021-10-13T170637.558Z","Monogenic Diabetes | Monogenic Diabetes","","",""
"NEXMIF","HGNC:29433","https://search.clinicalgenome.org/kb/genes/HGNC:29433","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/26/2019)","0 - No Evidence for Triplosensitivity (06/26/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29433","Dosage Working Group","definitive evidence (02/04/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_191437ab-2e73-4a0b-a660-ab5eab4c1066-2020-02-04T230000.000Z","Intellectual Disability and Autism","","",""
"NEXMIF","HGNC:29433","https://search.clinicalgenome.org/kb/genes/HGNC:29433","X-linked intellectual disability, Cantagrel type","MONDO:0010483","https://search.clinicalgenome.org/kb/conditions/MONDO:0010483","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/26/2019)","0 - No Evidence for Triplosensitivity (06/26/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29433","Dosage Working Group","","","","","",""
"NEXN","HGNC:29557","https://search.clinicalgenome.org/kb/genes/HGNC:29557","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","limited evidence (03/23/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9456bdef-7708-45b2-a698-c897167d7f5b-2023-03-23T160000.000Z","Hereditary Cardiovascular Disease","","",""
"NEXN","HGNC:29557","https://search.clinicalgenome.org/kb/genes/HGNC:29557","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","strong evidence (11/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ffe00b43-a449-4476-b7e0-f24cf6613766-2024-11-15T050000.000Z","Dilated Cardiomyopathy","","",""
"NF1","HGNC:7765","https://search.clinicalgenome.org/kb/genes/HGNC:7765","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/12/2023)","0 - No Evidence for Triplosensitivity (02/12/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7765","Dosage Working Group","no known disease relationship (02/22/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10082","Breast/Ovarian Cancer","","",""
"NF1","HGNC:7765","https://search.clinicalgenome.org/kb/genes/HGNC:7765","neurofibromatosis type 1","MONDO:0018975","https://search.clinicalgenome.org/kb/conditions/MONDO:0018975","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/12/2023)","0 - No Evidence for Triplosensitivity (02/12/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7765","Dosage Working Group","definitive evidence (03/05/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_367a3958-ce81-47fa-a505-a451ca67aab5-2019-03-05T170000.000Z","General Gene Curation","Assertion Pending (03/27/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC124",""
"NF2","HGNC:7773","https://search.clinicalgenome.org/kb/genes/HGNC:7773","NF2-related schwannomatosis","MONDO:0007039","https://search.clinicalgenome.org/kb/conditions/MONDO:0007039","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/08/2020)","0 - No Evidence for Triplosensitivity (09/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7773","Dosage Working Group","definitive evidence (02/27/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a185a859-a499-4c4a-bebe-996b16fb3cf3-2019-02-27T170000.000Z","General Gene Curation","Strong Actionability (03/31/2021) | Strong Actionability (03/31/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC021 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC021"," | "
"NFATC1","HGNC:7775","https://search.clinicalgenome.org/kb/genes/HGNC:7775","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (07/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8524125-b985-4fa5-bf8c-2cb6202964eb-2023-07-17T160000.000Z","Congenital Heart Disease","","",""
"NFATC2","HGNC:7776","https://search.clinicalgenome.org/kb/genes/HGNC:7776","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (03/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f22ef84-1ac1-412a-a134-bbe7617cf47f-2024-03-11T050000.000Z","Congenital Heart Disease","","",""
"NFE2","HGNC:7780","https://search.clinicalgenome.org/kb/genes/HGNC:7780","thrombocytopenia","MONDO:0002049","https://search.clinicalgenome.org/kb/conditions/MONDO:0002049","Autosomal recessive inheritance","","","","","limited evidence (06/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0bfed63-0fd3-44a8-abc3-91207b5564e8-2025-06-16T160000.000Z","Hemostasis Thrombosis","","",""
"NFE2L2","HGNC:7782","https://search.clinicalgenome.org/kb/genes/HGNC:7782","immunodeficiency, developmental delay, and hypohomocysteinemia","MONDO:0060591","https://search.clinicalgenome.org/kb/conditions/MONDO:0060591","Autosomal dominant inheritance","","","","","limited evidence (08/17/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1472f697-3de2-466b-9e76-beea2ec6ddc3-2025-08-17T160000.000Z","SCID-CID","","",""
"NFIA","HGNC:7784","https://search.clinicalgenome.org/kb/genes/HGNC:7784","brain malformations with or without urinary tract defects","MONDO:0100478","https://search.clinicalgenome.org/kb/conditions/MONDO:0100478","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/12/2017)","0 - No Evidence for Triplosensitivity (01/12/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7784","Dosage Working Group","definitive evidence (10/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d5a5b89-8315-495a-b13d-448f9ba9c553-2022-10-11T160000.000Z","Brain Malformations","","",""
"NFIA","HGNC:7784","https://search.clinicalgenome.org/kb/genes/HGNC:7784","chromosome 1p32-p31 deletion syndrome","MONDO:0013396","https://search.clinicalgenome.org/kb/conditions/MONDO:0013396","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/12/2017)","0 - No Evidence for Triplosensitivity (01/12/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7784","Dosage Working Group","","","","","",""
"NFIB","HGNC:7785","https://search.clinicalgenome.org/kb/genes/HGNC:7785","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/10/2024)","0 - No Evidence for Triplosensitivity (12/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7785","Dosage Working Group","definitive evidence (06/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e1ef9a4-9da5-4455-bfdf-5ad59f7b3270-2024-06-18T160000.000Z","Intellectual Disability and Autism","","",""
"NFIX","HGNC:7788","https://search.clinicalgenome.org/kb/genes/HGNC:7788","Marshall-Smith syndrome","MONDO:0011244","https://search.clinicalgenome.org/kb/conditions/MONDO:0011244","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/12/2022)","0 - No Evidence for Triplosensitivity (04/12/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7788","Dosage Working Group","definitive evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ea5e599-a88b-46de-be18-62e71389c413-2023-05-30T160000.000Z","Syndromic Disorders","","",""
"NFIX","HGNC:7788","https://search.clinicalgenome.org/kb/genes/HGNC:7788","Malan overgrowth syndrome","MONDO:0013885","https://search.clinicalgenome.org/kb/conditions/MONDO:0013885","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/12/2022)","0 - No Evidence for Triplosensitivity (04/12/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7788","Dosage Working Group","definitive evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9313537f-649e-44b9-9a53-b77a9d7e070c-2023-05-30T160000.000Z","Syndromic Disorders","","",""
"NFKB1","HGNC:7794","https://search.clinicalgenome.org/kb/genes/HGNC:7794","immunodeficiency, common variable, 12","MONDO:0014697","https://search.clinicalgenome.org/kb/conditions/MONDO:0014697","Autosomal dominant inheritance","","","","","moderate evidence (04/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e922c85d-f51a-4394-8906-cf01978d8154-2025-04-14T170000.000Z","Antibody Deficiencies GCEP","","",""
"NFKB2","HGNC:7795","https://search.clinicalgenome.org/kb/genes/HGNC:7795","immunodeficiency, common variable, 10","MONDO:0014260","https://search.clinicalgenome.org/kb/conditions/MONDO:0014260","Autosomal dominant inheritance","","","","","definitive evidence (10/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61b546f1-5683-4588-a5bc-030ebbd5b401-2021-10-13T132601.192Z","Antibody Deficiencies GCEP","","",""
"NFKBIA","HGNC:7797","https://search.clinicalgenome.org/kb/genes/HGNC:7797","ectodermal dysplasia and immunodeficiency 2","MONDO:0012806","https://search.clinicalgenome.org/kb/conditions/MONDO:0012806","Autosomal dominant inheritance","","","","","definitive evidence (02/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3333d698-dd58-4601-80b9-1892f2893bdf-2025-02-10T170000.000Z","SCID-CID","","",""
"NFKBIZ","HGNC:29805","https://search.clinicalgenome.org/kb/genes/HGNC:29805","hereditary nonpolyposis colon cancer","MONDO:0018630","https://search.clinicalgenome.org/kb/conditions/MONDO:0018630","Autosomal dominant inheritance","","","","","limited evidence (07/10/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9867","Colon Cancer","","",""
"NFU1","HGNC:16287","https://search.clinicalgenome.org/kb/genes/HGNC:16287","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (07/11/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1adb01f7-d226-4f55-ab00-adb513c20e80-2023-07-11T160000.000Z","Mitochondrial Diseases","","",""
"NGF","HGNC:7808","https://search.clinicalgenome.org/kb/genes/HGNC:7808","hereditary sensory and autonomic neuropathy","MONDO:0015364","https://search.clinicalgenome.org/kb/conditions/MONDO:0015364","Autosomal recessive inheritance","","","","","strong evidence (05/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0b3691d-a3d3-42f6-9703-18af08f40688-2023-05-05T160000.000Z","Charcot-Marie-Tooth","","",""
"NGLY1","HGNC:17646","https://search.clinicalgenome.org/kb/genes/HGNC:17646","congenital disorder of deglycosylation 1","MONDO:0800044","https://search.clinicalgenome.org/kb/conditions/MONDO:0800044","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/18/2015)","0 - No Evidence for Triplosensitivity (02/18/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17646","Dosage Working Group","definitive evidence (10/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d9f5127-4673-4cc2-99b4-5f220274bc90-2022-10-18T160000.000Z","General Gene Curation","","",""
"NHEJ1","HGNC:25737","https://search.clinicalgenome.org/kb/genes/HGNC:25737","Cernunnos-XLF deficiency","MONDO:0012650","https://search.clinicalgenome.org/kb/conditions/MONDO:0012650","Autosomal recessive inheritance","","","","","definitive evidence (05/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_765b118e-c60a-4696-b401-f63b3349d6d2-2021-05-20T151233.276Z","SCID-CID","","",""
"NHLRC1","HGNC:21576","https://search.clinicalgenome.org/kb/genes/HGNC:21576","Lafora disease","MONDO:0009697","https://search.clinicalgenome.org/kb/conditions/MONDO:0009697","Autosomal recessive inheritance","","","","","definitive evidence (03/03/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c4dbe715-b897-482d-afeb-b05c0653a79a-2020-03-03T170000.000Z","Epilepsy","","",""
"NHP2","HGNC:14377","https://search.clinicalgenome.org/kb/genes/HGNC:14377","dyskeratosis congenita, autosomal recessive 2","MONDO:0013519","https://search.clinicalgenome.org/kb/conditions/MONDO:0013519","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/04/2015)","0 - No Evidence for Triplosensitivity (03/04/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14377","Dosage Working Group","limited evidence (08/01/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8fa9dcb-1cc6-43a2-8f86-e6cea0e6fce2-2025-08-01T160000.000Z","Interstitial Lung Disease","","",""
"NHS","HGNC:7820","https://search.clinicalgenome.org/kb/genes/HGNC:7820","Nance-Horan syndrome","MONDO:0010545","https://search.clinicalgenome.org/kb/conditions/MONDO:0010545","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/28/2021)","0 - No Evidence for Triplosensitivity (04/28/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7820","Dosage Working Group","definitive evidence (10/20/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7f57ca3-efb2-4333-9ae1-732aa429f37a-2017-10-20T100000.000Z","Intellectual Disability and Autism","","",""
"NIPBL","HGNC:28862","https://search.clinicalgenome.org/kb/genes/HGNC:28862","Cornelia de Lange syndrome","MONDO:0016033","https://search.clinicalgenome.org/kb/conditions/MONDO:0016033","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","1 - Little Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28862","Dosage Working Group","definitive evidence (06/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4ecc430-6562-4d58-9118-c5253dc95ae9-2023-06-28T060000.000Z","Intellectual Disability and Autism","","",""
"NIPBL","HGNC:28862","https://search.clinicalgenome.org/kb/genes/HGNC:28862","Cornelia de Lange syndrome 1","MONDO:0007387","https://search.clinicalgenome.org/kb/conditions/MONDO:0007387","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","1 - Little Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28862","Dosage Working Group","","","","","",""
"NKX2-1","HGNC:11825","https://search.clinicalgenome.org/kb/genes/HGNC:11825","NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction","MONDO:0100520","https://search.clinicalgenome.org/kb/conditions/MONDO:0100520","Autosomal dominant inheritance","","","","","definitive evidence (07/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c584f6b9-ce28-4020-b34f-5d63a70a249b-2023-07-27T040000.000Z","Syndromic Disorders","","",""
"NKX2-5","HGNC:2488","https://search.clinicalgenome.org/kb/genes/HGNC:2488","NKX2.5-related congenital, conduction and myopathic heart disease","MONDO:0800441","https://search.clinicalgenome.org/kb/conditions/MONDO:0800441","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/22/2020)","0 - No Evidence for Triplosensitivity (07/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2488","Dosage Working Group","definitive evidence (11/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c429ebe5-43ec-40e7-9d73-55bbbb44f6d1-2024-11-07T170000.000Z","Congenital Heart Disease","","",""
"NKX2-6","HGNC:32940","https://search.clinicalgenome.org/kb/genes/HGNC:32940","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal recessive inheritance","","","","","limited evidence (01/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3910a6d-6df0-419b-8dee-e5075bfee8f8-2024-01-02T170000.000Z","Congenital Heart Disease","","",""
"NKX3-2","HGNC:951","https://search.clinicalgenome.org/kb/genes/HGNC:951","spondylo-megaepiphyseal-metaphyseal dysplasia","MONDO:0013228","https://search.clinicalgenome.org/kb/conditions/MONDO:0013228","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:951","Dosage Working Group","","","","","",""
"NLGN3","HGNC:14289","https://search.clinicalgenome.org/kb/genes/HGNC:14289","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","0 - No Evidence for Haploinsufficiency (07/25/2012)","0 - No Evidence for Triplosensitivity (07/25/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14289","Dosage Working Group","moderate evidence (08/15/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6e7e531-093b-4216-8c56-0c94e63c2811-2018-08-15T100000.000Z","Intellectual Disability and Autism","","",""
"NLGN4X","HGNC:14287","https://search.clinicalgenome.org/kb/genes/HGNC:14287","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","2 - Emerging Evidence for Haploinsufficiency (03/26/2025)","0 - No Evidence for Triplosensitivity (03/26/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14287","Dosage Working Group","definitive evidence (10/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bed32aec-b1a6-41ff-9607-b4172888c46a-2025-10-10T100000.000Z","Intellectual Disability and Autism","","",""
"NME5","HGNC:7853","https://search.clinicalgenome.org/kb/genes/HGNC:7853","ciliary dyskinesia, primary, 48, without situs inversus","MONDO:0031054","https://search.clinicalgenome.org/kb/conditions/MONDO:0031054","Autosomal recessive inheritance","","","","","moderate evidence (02/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00efe110-5916-4da0-92ac-cee8c8b18140-2024-02-08T170000.000Z","Motile Ciliopathy GCEP","","",""
"NME8","HGNC:16473","https://search.clinicalgenome.org/kb/genes/HGNC:16473","primary ciliary dyskinesia 6","MONDO:0012571","https://search.clinicalgenome.org/kb/conditions/MONDO:0012571","Autosomal recessive inheritance","","","","","limited evidence (06/08/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57ca8383-55b6-4edd-9be2-67b1c5142ed1-2023-06-08T160000.000Z","Motile Ciliopathy GCEP","","",""
"NMNAT1","HGNC:17877","https://search.clinicalgenome.org/kb/genes/HGNC:17877","NMNAT1-related retinopathy","MONDO:0800101","https://search.clinicalgenome.org/kb/conditions/MONDO:0800101","Autosomal recessive inheritance","","","","","definitive evidence (11/04/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6733bc3-489d-413d-9dbe-1bca25f48d49-2021-11-04T160000.000Z","Retina","","",""
"NNT","HGNC:7863","https://search.clinicalgenome.org/kb/genes/HGNC:7863","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (07/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4e0dd90-67d0-496d-9252-5a374c53ddb9-2024-07-15T040000.000Z","Mitochondrial Diseases","","",""
"NOD2","HGNC:5331","https://search.clinicalgenome.org/kb/genes/HGNC:5331","Blau syndrome","MONDO:0008523","https://search.clinicalgenome.org/kb/conditions/MONDO:0008523","Autosomal dominant inheritance","","","","","definitive evidence (10/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1fd650d7-6a84-4b33-b86e-d34cab5b7d57-2020-10-07T171807.983Z","Syndromic Disorders","","",""
"NOG","HGNC:7866","https://search.clinicalgenome.org/kb/genes/HGNC:7866","NOG-related symphalangism spectrum disorder","MONDO:0100521","https://search.clinicalgenome.org/kb/conditions/MONDO:0100521","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/12/2021)","0 - No Evidence for Triplosensitivity (01/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7866","Dosage Working Group","definitive evidence (07/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab71a633-1fd2-45b8-93f3-40648526631d-2023-07-05T160000.000Z","Syndromic Disorders","","",""
"NOG","HGNC:7866","https://search.clinicalgenome.org/kb/genes/HGNC:7866","multiple synostoses syndrome 1","MONDO:0008519","https://search.clinicalgenome.org/kb/conditions/MONDO:0008519","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/12/2021)","0 - No Evidence for Triplosensitivity (01/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7866","Dosage Working Group","","","","","",""
"NONO","HGNC:7871","https://search.clinicalgenome.org/kb/genes/HGNC:7871","X-linked syndromic intellectual disability","MONDO:0020119","https://search.clinicalgenome.org/kb/conditions/MONDO:0020119","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/24/2024)","0 - No Evidence for Triplosensitivity (07/24/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7871","Dosage Working Group","definitive evidence (04/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82c86e42-461d-459e-b20e-70f2b51df099-2023-04-05T190000.000Z","Intellectual Disability and Autism","","",""
"NOP10","HGNC:14378","https://search.clinicalgenome.org/kb/genes/HGNC:14378","pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9","MONDO:0957294","https://search.clinicalgenome.org/kb/conditions/MONDO:0957294","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (02/12/2025)","0 - No Evidence for Triplosensitivity (02/12/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14378","Dosage Working Group","limited evidence (03/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9746cfcc-b3b2-485d-8bf7-6bd1272ed3b2-2025-03-18T190000.000Z","Interstitial Lung Disease","","",""
"NOTCH1","HGNC:7881","https://search.clinicalgenome.org/kb/genes/HGNC:7881","NOTCH1-related AOS spectrum disorder","MONDO:1060150","https://search.clinicalgenome.org/kb/conditions/MONDO:1060150","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/24/2024)","0 - No Evidence for Triplosensitivity (09/24/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7881","Dosage Working Group","definitive evidence (03/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_419c6123-9678-4c4c-bbb7-6e9f463f4515-2025-03-07T170000.000Z","Hereditary Cardiovascular Disease","","",""
"NOTCH1","HGNC:7881","https://search.clinicalgenome.org/kb/genes/HGNC:7881","Adams-Oliver syndrome 5","MONDO:0014459","https://search.clinicalgenome.org/kb/conditions/MONDO:0014459","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/24/2024)","0 - No Evidence for Triplosensitivity (09/24/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7881","Dosage Working Group","","","","","",""
"NOTCH2","HGNC:7882","https://search.clinicalgenome.org/kb/genes/HGNC:7882","Alagille syndrome","MONDO:0007318","https://search.clinicalgenome.org/kb/conditions/MONDO:0007318","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/17/2014)","0 - No Evidence for Triplosensitivity (07/17/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7882","Dosage Working Group","definitive evidence (02/26/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_044f1413-e1cd-4212-9e9a-a4d9c66c08dc-2025-02-26T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"NOTCH2","HGNC:7882","https://search.clinicalgenome.org/kb/genes/HGNC:7882","acroosteolysis dominant type","MONDO:0007057","https://search.clinicalgenome.org/kb/conditions/MONDO:0007057","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/17/2014)","0 - No Evidence for Triplosensitivity (07/17/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7882","Dosage Working Group","definitive evidence (04/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4038bee8-e900-4c78-b417-9ea1adad697d-2025-04-14T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"NOTCH2","HGNC:7882","https://search.clinicalgenome.org/kb/genes/HGNC:7882","Alagille syndrome due to a NOTCH2 point mutation","MONDO:0012439","https://search.clinicalgenome.org/kb/conditions/MONDO:0012439","N/A","0 - No Evidence for Haploinsufficiency (07/17/2014)","0 - No Evidence for Triplosensitivity (07/17/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7882","Dosage Working Group","","","","","",""
"NOTCH3","HGNC:7883","https://search.clinicalgenome.org/kb/genes/HGNC:7883","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","disputing (11/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d59e2823-a923-4c3e-8976-c3451eaa8666-2022-11-03T160000.000Z","Pulmonary Hypertension","","",""
"NOTCH3","HGNC:7883","https://search.clinicalgenome.org/kb/genes/HGNC:7883","cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1","MONDO:0000914","https://search.clinicalgenome.org/kb/conditions/MONDO:0000914","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (05/15/2023) | Limited Actionability (09/09/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC099 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC099"," | "
"NOVA2","HGNC:7887","https://search.clinicalgenome.org/kb/genes/HGNC:7887","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (05/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b8b1429-10a8-41b6-8ced-7b7bf73a7e8d-2024-05-15T160000.000Z","Intellectual Disability and Autism","","",""
"NPC1","HGNC:7897","https://search.clinicalgenome.org/kb/genes/HGNC:7897","Niemann-Pick disease, type C1","MONDO:0009757","https://search.clinicalgenome.org/kb/conditions/MONDO:0009757","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7897","Dosage Working Group","definitive evidence (03/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8459873-2577-43ff-966c-e5180683d4f4-2022-03-01T170000.000Z","Lysosomal Diseases GCEP","","",""
"NPC2","HGNC:14537","https://search.clinicalgenome.org/kb/genes/HGNC:14537","Niemann-Pick disease, type C2","MONDO:0011873","https://search.clinicalgenome.org/kb/conditions/MONDO:0011873","Autosomal recessive inheritance","","","","","definitive evidence (04/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82bb23dd-d3bc-478d-bb3d-d1928e810029-2022-04-05T160000.000Z","Lysosomal Diseases GCEP","","",""
"NPHP1","HGNC:7905","https://search.clinicalgenome.org/kb/genes/HGNC:7905","nephronophthisis 1","MONDO:0009728","https://search.clinicalgenome.org/kb/conditions/MONDO:0009728","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/10/2012)","0 - No Evidence for Triplosensitivity (10/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7905","Dosage Working Group","definitive evidence (01/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_abc69434-e9e6-4a2b-96b6-b7186f40021f-2021-01-27T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"NPHP1","HGNC:7905","https://search.clinicalgenome.org/kb/genes/HGNC:7905","Joubert syndrome and related disorders","MONDO:0015369","https://search.clinicalgenome.org/kb/conditions/MONDO:0015369","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (10/10/2012)","0 - No Evidence for Triplosensitivity (10/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7905","Dosage Working Group","","","","","",""
"NPHP3","HGNC:7907","https://search.clinicalgenome.org/kb/genes/HGNC:7907","nephronophthisis","MONDO:0019005","https://search.clinicalgenome.org/kb/conditions/MONDO:0019005","Autosomal recessive inheritance","","","","","definitive evidence (07/24/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47c3a0f1-9c14-4c92-83f2-e1105d528097-2021-07-24T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"NPHP4","HGNC:19104","https://search.clinicalgenome.org/kb/genes/HGNC:19104","nephronophthisis 4","MONDO:0011752","https://search.clinicalgenome.org/kb/conditions/MONDO:0011752","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19104","Dosage Working Group","definitive evidence (02/10/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cafd0d51-dd5d-4691-8725-86518345b097-2021-02-10T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"NPHP4","HGNC:19104","https://search.clinicalgenome.org/kb/genes/HGNC:19104","Senior-Loken syndrome 4","MONDO:0011756","https://search.clinicalgenome.org/kb/conditions/MONDO:0011756","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19104","Dosage Working Group","","","","","",""
"NPHS1","HGNC:7908","https://search.clinicalgenome.org/kb/genes/HGNC:7908","congenital nephrotic syndrome, Finnish type","MONDO:0009732","https://search.clinicalgenome.org/kb/conditions/MONDO:0009732","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7908","Dosage Working Group","definitive evidence (01/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b474ea36-3ba2-4a2e-b6f6-eaa0f05c05b8-2022-01-10T013000.000Z","Glomerulopathy","","",""
"NPM1","HGNC:7910","https://search.clinicalgenome.org/kb/genes/HGNC:7910","bone marrow failure syndrome","MONDO:0000159","https://search.clinicalgenome.org/kb/conditions/MONDO:0000159","Autosomal dominant inheritance","","","","","limited evidence (04/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53473fb7-51bd-4ce9-b447-9113dfa8bb70-2025-04-08T160000.000Z","Childhood, Adolescent and Young Adult Cancer Predisposition","","",""
"NPPA","HGNC:7939","https://search.clinicalgenome.org/kb/genes/HGNC:7939","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","no known disease relationship (09/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d85124b6-b754-4a0f-bbe4-3bbf1ca95283-2024-09-06T160000.000Z","Dilated Cardiomyopathy","","",""
"NPRL2","HGNC:24969","https://search.clinicalgenome.org/kb/genes/HGNC:24969","focal epilepsy","MONDO:0005384","https://search.clinicalgenome.org/kb/conditions/MONDO:0005384","Autosomal dominant inheritance","","","","","definitive evidence (07/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f386a6d-0a4a-4474-b9ad-586712395b8d-2023-07-18T070000.000Z","Epilepsy","","",""
"NPRL3","HGNC:14124","https://search.clinicalgenome.org/kb/genes/HGNC:14124","focal epilepsy","MONDO:0005384","https://search.clinicalgenome.org/kb/conditions/MONDO:0005384","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/12/2023)","0 - No Evidence for Triplosensitivity (12/12/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14124","Dosage Working Group","definitive evidence (08/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19a476ce-334f-4727-bbf2-ea4cfa37a223-2023-08-01T190000.000Z","Epilepsy","","",""
"NPTX1","HGNC:7952","https://search.clinicalgenome.org/kb/genes/HGNC:7952","autosomal dominant cerebellar ataxia","MONDO:0020380","https://search.clinicalgenome.org/kb/conditions/MONDO:0020380","Autosomal dominant inheritance","","","","","limited evidence (09/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25b36b0e-4b63-436b-b74a-4d54876cae8d-2024-09-11T160000.000Z","Cerebellar Ataxia","","",""
"NR0B1","HGNC:7960","https://search.clinicalgenome.org/kb/genes/HGNC:7960","X-linked adrenal hypoplasia congenita","MONDO:0010264","https://search.clinicalgenome.org/kb/conditions/MONDO:0010264","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/06/2020)","0 - No Evidence for Triplosensitivity (05/06/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7960","Dosage Working Group","","","","","",""
"NR2F1","HGNC:7975","https://search.clinicalgenome.org/kb/genes/HGNC:7975","Bosch-Boonstra-Schaaf optic atrophy syndrome","MONDO:0014320","https://search.clinicalgenome.org/kb/conditions/MONDO:0014320","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/09/2022)","0 - No Evidence for Triplosensitivity (08/09/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7975","Dosage Working Group","definitive evidence (02/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1aa4efce-b5b8-4cbd-b043-bb89c5283e3c-2022-02-16T170000.000Z","Intellectual Disability and Autism","","",""
"NR2F2","HGNC:7976","https://search.clinicalgenome.org/kb/genes/HGNC:7976","NR2F2 related multiple congenital anomalies/dysmorphic syndrome","MONDO:0800458","https://search.clinicalgenome.org/kb/conditions/MONDO:0800458","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/10/2012)","0 - No Evidence for Triplosensitivity (07/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7976","Dosage Working Group","definitive evidence (08/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bac9024-04eb-4cea-8886-3181c948e54b-2023-08-01T160000.000Z","Congenital Heart Disease","","",""
"NR3C2","HGNC:7979","https://search.clinicalgenome.org/kb/genes/HGNC:7979","autosomal dominant pseudohypoaldosteronism type 1","MONDO:0008329","https://search.clinicalgenome.org/kb/conditions/MONDO:0008329","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/06/2020)","0 - No Evidence for Triplosensitivity (04/06/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7979","Dosage Working Group","definitive evidence (07/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c78e824-d77d-4635-a181-6139b8e9c028-2021-07-15T023000.000Z","Tubulopathy","","",""
"NR3C2","HGNC:7979","https://search.clinicalgenome.org/kb/genes/HGNC:7979","pseudohyperaldosteronism type 2","MONDO:0011517","https://search.clinicalgenome.org/kb/conditions/MONDO:0011517","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/06/2020)","0 - No Evidence for Triplosensitivity (04/06/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7979","Dosage Working Group","limited evidence (07/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26410755-d552-4111-9f23-14dbeaa99293-2021-07-15T023000.000Z","Tubulopathy","","",""
"NR4A2","HGNC:7981","https://search.clinicalgenome.org/kb/genes/HGNC:7981","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/27/2022)","0 - No Evidence for Triplosensitivity (09/27/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7981","Dosage Working Group","definitive evidence (05/05/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8923fda-35f3-47e3-a987-8ca2b86e4b92-2021-05-05T160000.000Z","Intellectual Disability and Autism","","",""
"NR5A1","HGNC:7983","https://search.clinicalgenome.org/kb/genes/HGNC:7983","46,XY sex reversal 3","MONDO:0013066","https://search.clinicalgenome.org/kb/conditions/MONDO:0013066","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/24/2021)","0 - No Evidence for Triplosensitivity (02/24/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7983","Dosage Working Group","","","","","",""
"NRAP","HGNC:7988","https://search.clinicalgenome.org/kb/genes/HGNC:7988","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","strong evidence (07/26/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f72c0812-9782-444c-a87c-b50286bbfd09-2024-07-26T160000.000Z","Dilated Cardiomyopathy","","",""
"NRAS","HGNC:7989","https://search.clinicalgenome.org/kb/genes/HGNC:7989","cardiofaciocutaneous syndrome","MONDO:0015280","https://search.clinicalgenome.org/kb/conditions/MONDO:0015280","Autosomal dominant inheritance","","","","","limited evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d466df2a-8e3d-4d4a-bb96-8e483d4c56e7-2018-07-24T160000.000Z","RASopathy","","",""
"NRAS","HGNC:7989","https://search.clinicalgenome.org/kb/genes/HGNC:7989","Noonan syndrome with multiple lentigines","MONDO:0007893","https://search.clinicalgenome.org/kb/conditions/MONDO:0007893","Autosomal dominant inheritance","","","","","limited evidence (05/30/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5622684-4367-4d90-b769-f7205ee1cac8-2018-05-30T160000.000Z","RASopathy","","",""
"NRAS","HGNC:7989","https://search.clinicalgenome.org/kb/genes/HGNC:7989","Costello syndrome","MONDO:0009026","https://search.clinicalgenome.org/kb/conditions/MONDO:0009026","Autosomal dominant inheritance","","","","","limited evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28526e91-0db9-4724-94f3-e4222ace602c-2018-07-24T160000.000Z","RASopathy","","",""
"NRAS","HGNC:7989","https://search.clinicalgenome.org/kb/genes/HGNC:7989","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","","","","","definitive evidence (05/30/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34419b69-59c3-458b-a2a5-38a401679deb-2018-05-30T160000.000Z","RASopathy","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"NRAS","HGNC:7989","https://search.clinicalgenome.org/kb/genes/HGNC:7989","Noonan syndrome 6","MONDO:0013186","https://search.clinicalgenome.org/kb/conditions/MONDO:0013186","N/A","","","","","","","","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"NRL","HGNC:8002","https://search.clinicalgenome.org/kb/genes/HGNC:8002","retinitis pigmentosa 27","MONDO:0013402","https://search.clinicalgenome.org/kb/conditions/MONDO:0013402","Autosomal dominant inheritance","","","","","definitive evidence (03/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_008f8603-d642-4212-a927-399f3faa35a9-2025-03-25T160000.000Z","Retina","","",""
"NRP1","HGNC:8004","https://search.clinicalgenome.org/kb/genes/HGNC:8004","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal recessive inheritance","","","","","limited evidence (03/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4d5cd16a-bbd6-4cb0-bdb8-27b8bd4f0948-2024-03-05T170000.000Z","Congenital Heart Disease","","",""
"NRROS","HGNC:24613","https://search.clinicalgenome.org/kb/genes/HGNC:24613","seizures, early-onset, with neurodegeneration and brain calcifications","MONDO:0030033","https://search.clinicalgenome.org/kb/conditions/MONDO:0030033","Autosomal recessive inheritance","","","","","definitive evidence (09/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebf06969-1af8-411f-bc64-7f1563851363-2023-09-15T160000.000Z","Syndromic Disorders","","",""
"NRXN1","HGNC:8008","https://search.clinicalgenome.org/kb/genes/HGNC:8008","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/08/2021)","0 - No Evidence for Triplosensitivity (06/08/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8008","Dosage Working Group","definitive evidence (07/10/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14bb833a-eefd-4f02-b112-c74b6866d5be-2019-07-10T100000.000Z","Intellectual Disability and Autism","","",""
"NSD1","HGNC:14234","https://search.clinicalgenome.org/kb/genes/HGNC:14234","Sotos syndrome","MONDO:0019349","https://search.clinicalgenome.org/kb/conditions/MONDO:0019349","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/27/2020)","0 - No Evidence for Triplosensitivity (07/27/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14234","Dosage Working Group","definitive evidence (10/26/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa1a412a-ee7d-4517-81ba-0ceead9668d1-2018-10-26T100000.000Z","Intellectual Disability and Autism","","",""
"NSD2","HGNC:12766","https://search.clinicalgenome.org/kb/genes/HGNC:12766","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/25/2023)","0 - No Evidence for Triplosensitivity (10/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12766","Dosage Working Group","definitive evidence (06/02/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_de3c113b-0a7d-454d-88e3-faf4f1fdb9ac-2021-06-02T060000.000Z","Intellectual Disability and Autism","","",""
"NSDHL","HGNC:13398","https://search.clinicalgenome.org/kb/genes/HGNC:13398","CK syndrome","MONDO:0010441","https://search.clinicalgenome.org/kb/conditions/MONDO:0010441","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/25/2019)","0 - No Evidence for Triplosensitivity (09/25/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13398","Dosage Working Group","moderate evidence (01/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d94406f0-a459-47ed-aabc-80c7b6be9293-2021-01-20T170000.000Z","Intellectual Disability and Autism","","",""
"NSDHL","HGNC:13398","https://search.clinicalgenome.org/kb/genes/HGNC:13398","CHILD syndrome","MONDO:0010621","https://search.clinicalgenome.org/kb/conditions/MONDO:0010621","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/25/2019)","0 - No Evidence for Triplosensitivity (09/25/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13398","Dosage Working Group","","","","","",""
"NSMCE2","HGNC:26513","https://search.clinicalgenome.org/kb/genes/HGNC:26513","Seckel syndrome 10","MONDO:0014991","https://search.clinicalgenome.org/kb/conditions/MONDO:0014991","Autosomal recessive inheritance","","","","","moderate evidence (02/05/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca7846fa-7685-4f47-b7e4-f4a9e3877664-2025-02-05T170000.000Z","Syndromic Disorders","","",""
"NSMCE3","HGNC:7677","https://search.clinicalgenome.org/kb/genes/HGNC:7677","lung disease, immunodeficiency, and chromosome breakage syndrome;","MONDO:0014984","https://search.clinicalgenome.org/kb/conditions/MONDO:0014984","Autosomal recessive inheritance","","","","","limited evidence (06/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2fa3c6a0-fd54-40a5-a27c-2376703bf69d-2024-06-20T170000.000Z","SCID-CID","","",""
"NSRP1","HGNC:25305","https://search.clinicalgenome.org/kb/genes/HGNC:25305","neurodevelopmental disorder with spasticity, seizures, and brain abnormalities","MONDO:0859275","https://search.clinicalgenome.org/kb/conditions/MONDO:0859275","Autosomal recessive inheritance","","","","","moderate evidence (12/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aedfe664-3c38-4478-aab0-32820b3bc8b4-2024-12-16T170000.000Z","Cerebral Palsy","","",""
"NSUN2","HGNC:25994","https://search.clinicalgenome.org/kb/genes/HGNC:25994","RASopathy","MONDO:0021060","https://search.clinicalgenome.org/kb/conditions/MONDO:0021060","Autosomal recessive inheritance","","","","","disputing (02/04/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6442d764-3ff8-41f4-984d-776254226b05-2019-02-04T170000.000Z","RASopathy","","",""
"NSUN2","HGNC:25994","https://search.clinicalgenome.org/kb/genes/HGNC:25994","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal recessive inheritance","","","","","definitive evidence (10/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6878f90-f485-4c44-95d3-a33b0ec9f66f-2023-10-18T160000.000Z","Intellectual Disability and Autism","","",""
"NT5C2","HGNC:8022","https://search.clinicalgenome.org/kb/genes/HGNC:8022","complex hereditary spastic paraplegia","MONDO:0015150","https://search.clinicalgenome.org/kb/conditions/MONDO:0015150","Autosomal recessive inheritance","","","","","definitive evidence (09/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d359b0c-c719-4f5a-8355-1694398f4b79-2024-09-12T023000.000Z","Cerebral Palsy","","",""
"NTF4","HGNC:8024","https://search.clinicalgenome.org/kb/genes/HGNC:8024","glaucoma 1, open angle, O","MONDO:0013134","https://search.clinicalgenome.org/kb/conditions/MONDO:0013134","Autosomal dominant inheritance","","","","","disputing (12/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_144eb479-2c08-47cd-a6d2-8e1abef5cf54-2022-12-15T170000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"NTHL1","HGNC:8028","https://search.clinicalgenome.org/kb/genes/HGNC:8028","NTHL1-deficiency tumor predisposition syndrome","MONDO:0100502","https://search.clinicalgenome.org/kb/conditions/MONDO:0100502","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (07/06/2020)","0 - No Evidence for Triplosensitivity (07/06/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8028","Dosage Working Group","definitive evidence (12/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a612b05-25f2-4e60-90a5-70ad6363c1fc-2022-12-30T180000.000Z","Hereditary Cancer","","",""
"NTHL1","HGNC:8028","https://search.clinicalgenome.org/kb/genes/HGNC:8028","familial adenomatous polyposis 3","MONDO:0014630","https://search.clinicalgenome.org/kb/conditions/MONDO:0014630","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (07/06/2020)","0 - No Evidence for Triplosensitivity (07/06/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8028","Dosage Working Group","","","","","",""
"NTNG1","HGNC:23319","https://search.clinicalgenome.org/kb/genes/HGNC:23319","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","limited evidence (02/01/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c648acf-5801-481b-a1c4-f950e99d4d96-2021-02-01T230000.000Z","Intellectual Disability and Autism","","",""
"NTRK1","HGNC:8031","https://search.clinicalgenome.org/kb/genes/HGNC:8031","hereditary sensory and autonomic neuropathy type 4","MONDO:0009746","https://search.clinicalgenome.org/kb/conditions/MONDO:0009746","Autosomal recessive inheritance","","","","","definitive evidence (11/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e716345f-08da-4a06-b3e1-d07974a4305d-2021-11-17T030955.951Z","Charcot-Marie-Tooth","","",""
"NTRK3","HGNC:8033","https://search.clinicalgenome.org/kb/genes/HGNC:8033","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (02/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ec69048-b11f-41f5-b160-c184ae1d65e6-2024-02-06T170000.000Z","Congenital Heart Disease","","",""
"NUBPL","HGNC:20278","https://search.clinicalgenome.org/kb/genes/HGNC:20278","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (03/19/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4365ffcd-637c-4862-9fa0-fb8a780a6d25-2020-03-19T195115.036Z","Mitochondrial Diseases","","",""
"NUBPL","HGNC:20278","https://search.clinicalgenome.org/kb/genes/HGNC:20278","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (09/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_940d64cb-da20-4608-961d-345d6c8b437c-2024-09-19T040000.000Z","Mitochondrial Diseases","","",""
"NUDCD3","HGNC:22208","https://search.clinicalgenome.org/kb/genes/HGNC:22208","severe combined immunodeficiency","MONDO:0015974","https://search.clinicalgenome.org/kb/conditions/MONDO:0015974","Autosomal recessive inheritance","","","","","limited evidence (10/01/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48e17d44-6696-47ce-88fc-8e4bca6c420a-2025-10-01T160000.000Z","SCID-CID","","",""
"NUP133","HGNC:18016","https://search.clinicalgenome.org/kb/genes/HGNC:18016","nephrotic syndrome, type 18","MONDO:0032581","https://search.clinicalgenome.org/kb/conditions/MONDO:0032581","Autosomal recessive inheritance","","","","","moderate evidence (06/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bf3146d-c384-4697-9bf0-09659ac6aec0-2024-06-25T160000.000Z","Glomerulopathy","","",""
"NUP160","HGNC:18017","https://search.clinicalgenome.org/kb/genes/HGNC:18017","nephrotic syndrome, type 19","MONDO:0032582","https://search.clinicalgenome.org/kb/conditions/MONDO:0032582","Autosomal recessive inheritance","","","","","moderate evidence (07/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13312160-3d59-4c58-8992-c2f56d7d105d-2024-07-23T180000.000Z","Glomerulopathy","","",""
"NUP188","HGNC:17859","https://search.clinicalgenome.org/kb/genes/HGNC:17859","sandestig-stefanova syndrome","MONDO:0032926","https://search.clinicalgenome.org/kb/conditions/MONDO:0032926","Autosomal recessive inheritance","","","","","definitive evidence (05/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a43556ed-7b24-455b-b476-a0f81c8cfef6-2025-05-07T160000.000Z","Syndromic Disorders","","",""
"NUP205","HGNC:18658","https://search.clinicalgenome.org/kb/genes/HGNC:18658","nephrotic syndrome, type 13","MONDO:0014818","https://search.clinicalgenome.org/kb/conditions/MONDO:0014818","Autosomal recessive inheritance","","","","","limited evidence (09/27/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31bb58ab-3105-4a05-a0ef-6534692e9be7-2022-09-27T180000.000Z","Glomerulopathy","","",""
"NUP50","HGNC:8065","https://search.clinicalgenome.org/kb/genes/HGNC:8065","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","","","","","limited evidence (06/27/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ce3418e-c7e5-452b-9db6-661571331822-2024-06-27T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"NUP62","HGNC:8066","https://search.clinicalgenome.org/kb/genes/HGNC:8066","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","disputing (12/16/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8441b4db-da7d-49a2-816c-9f868a96ffab-2020-12-16T050000.000Z","Mitochondrial Diseases","","",""
"NUP93","HGNC:28958","https://search.clinicalgenome.org/kb/genes/HGNC:28958","nephrotic syndrome, type 12","MONDO:0014817","https://search.clinicalgenome.org/kb/conditions/MONDO:0014817","Autosomal recessive inheritance","","","","","definitive evidence (07/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bbef3f71-5ee5-434e-a14c-c05c1cc2569b-2022-07-26T060000.000Z","Glomerulopathy","","",""
"NUS1","HGNC:21042","https://search.clinicalgenome.org/kb/genes/HGNC:21042","progressive myoclonus epilepsy","MONDO:0020074","https://search.clinicalgenome.org/kb/conditions/MONDO:0020074","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/27/2022)","0 - No Evidence for Triplosensitivity (09/27/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21042","Dosage Working Group","definitive evidence (05/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e50efc63-0235-4c75-a4ab-6c129485a117-2025-05-20T160000.000Z","Epilepsy","","",""
"NUS1","HGNC:21042","https://search.clinicalgenome.org/kb/genes/HGNC:21042","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/27/2022)","0 - No Evidence for Triplosensitivity (09/27/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21042","Dosage Working Group","","","","","",""
"NYX","HGNC:8082","https://search.clinicalgenome.org/kb/genes/HGNC:8082","NYX-related retinopathy","MONDO:0800407","https://search.clinicalgenome.org/kb/conditions/MONDO:0800407","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/22/2020)","0 - No Evidence for Triplosensitivity (01/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8082","Dosage Working Group","definitive evidence (03/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c48083c5-2ef8-45ee-a97f-dc973d5d5072-2022-03-03T170000.000Z","Retina","","",""
"NYX","HGNC:8082","https://search.clinicalgenome.org/kb/genes/HGNC:8082","congenital stationary night blindness 1A","MONDO:0010690","https://search.clinicalgenome.org/kb/conditions/MONDO:0010690","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/22/2020)","0 - No Evidence for Triplosensitivity (01/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8082","Dosage Working Group","","","","","",""
"OAT","HGNC:8091","https://search.clinicalgenome.org/kb/genes/HGNC:8091","ornithine aminotransferase deficiency","MONDO:0009796","https://search.clinicalgenome.org/kb/conditions/MONDO:0009796","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8091","Dosage Working Group","definitive evidence (07/10/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_edbab666-9ae6-46db-b818-809a4bf8333e-2019-07-10T160000.000Z","Aminoacidopathy","Strong Actionability (06/29/2020) | Moderate Actionability (06/29/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1014 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1014"," | "
"OBSCN","HGNC:15719","https://search.clinicalgenome.org/kb/genes/HGNC:15719","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","limited evidence (04/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94265ca9-cf6a-468e-b12c-6ea173d09e51-2022-04-13T160000.000Z","Hereditary Cardiovascular Disease","","",""
"OBSCN","HGNC:15719","https://search.clinicalgenome.org/kb/genes/HGNC:15719","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","limited evidence (02/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1b69281-f3d0-4efe-998d-db080868b57e-2025-02-07T170000.000Z","Dilated Cardiomyopathy","","",""
"OBSL1","HGNC:29092","https://search.clinicalgenome.org/kb/genes/HGNC:29092","3M syndrome 2","MONDO:0013039","https://search.clinicalgenome.org/kb/conditions/MONDO:0013039","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29092","Dosage Working Group","","","","","",""
"OCA2","HGNC:8101","https://search.clinicalgenome.org/kb/genes/HGNC:8101","oculocutaneous albinism type 2","MONDO:0008746","https://search.clinicalgenome.org/kb/conditions/MONDO:0008746","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/28/2012)","0 - No Evidence for Triplosensitivity (04/28/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8101","Dosage Working Group","definitive evidence (08/25/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7433c1e2-a3a6-4351-88e0-cb3edcf39910-2021-08-25T160000.000Z","General Gene Curation","","",""
"OCLN","HGNC:8104","https://search.clinicalgenome.org/kb/genes/HGNC:8104","pseudo-TORCH syndrome 1","MONDO:0020789","https://search.clinicalgenome.org/kb/conditions/MONDO:0020789","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8104","Dosage Working Group","","","","","",""
"OCRL","HGNC:8108","https://search.clinicalgenome.org/kb/genes/HGNC:8108","oculocerebrorenal syndrome","MONDO:0010645","https://search.clinicalgenome.org/kb/conditions/MONDO:0010645","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/12/2021)","0 - No Evidence for Triplosensitivity (01/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8108","Dosage Working Group","definitive evidence (07/10/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5140c756-fac0-435b-8f59-a5d4a0b0adb3-2020-07-10T160000.000Z","Intellectual Disability and Autism","","",""
"ODAD1","HGNC:26560","https://search.clinicalgenome.org/kb/genes/HGNC:26560","primary ciliary dyskinesia 20","MONDO:0014030","https://search.clinicalgenome.org/kb/conditions/MONDO:0014030","Autosomal recessive inheritance","","","","","definitive evidence (08/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_999e752a-e549-447f-b142-265be7dd5935-2022-08-17T110000.000Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"ODAD2","HGNC:25583","https://search.clinicalgenome.org/kb/genes/HGNC:25583","primary ciliary dyskinesia 23","MONDO:0014193","https://search.clinicalgenome.org/kb/conditions/MONDO:0014193","Autosomal recessive inheritance","","","","","definitive evidence (12/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ac46902-bffa-46f9-bc0d-081e6461d5e2-2022-12-14T170000.000Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"ODAD3","HGNC:28303","https://search.clinicalgenome.org/kb/genes/HGNC:28303","primary ciliary dyskinesia 30","MONDO:0014465","https://search.clinicalgenome.org/kb/conditions/MONDO:0014465","Autosomal recessive inheritance","","","","","definitive evidence (03/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3238f748-9461-4704-ae35-02115485fab6-2023-03-03T170000.000Z","Motile Ciliopathy GCEP","","",""
"ODAD4","HGNC:25280","https://search.clinicalgenome.org/kb/genes/HGNC:25280","primary ciliary dyskinesia 35","MONDO:0014910","https://search.clinicalgenome.org/kb/conditions/MONDO:0014910","Autosomal recessive inheritance","","","","","definitive evidence (12/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_547fed6e-47df-44b5-bf4a-e31f7b045862-2022-12-08T170000.000Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"OFD1","HGNC:2567","https://search.clinicalgenome.org/kb/genes/HGNC:2567","OFD1-related ciliopathy","MONDO:1040039","https://search.clinicalgenome.org/kb/conditions/MONDO:1040039","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/13/2021)","0 - No Evidence for Triplosensitivity (04/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2567","Dosage Working Group","definitive evidence (10/12/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_15e32789-4f24-4870-94d3-b5618e67509f-2025-10-12T230000.000Z","Motile Ciliopathy GCEP","","",""
"OFD1","HGNC:2567","https://search.clinicalgenome.org/kb/genes/HGNC:2567","orofaciodigital syndrome I","MONDO:0010702","https://search.clinicalgenome.org/kb/conditions/MONDO:0010702","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/13/2021)","0 - No Evidence for Triplosensitivity (04/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2567","Dosage Working Group","","","","","",""
"OGT","HGNC:8127","https://search.clinicalgenome.org/kb/genes/HGNC:8127","intellectual disability, X-linked 106","MONDO:0030907","https://search.clinicalgenome.org/kb/conditions/MONDO:0030907","X-linked inheritance","","","","","moderate evidence (08/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07776d36-7494-4ee4-992e-c6fb82c36749-2024-08-08T160000.000Z","Syndromic Disorders","","",""
"OPA1","HGNC:8140","https://search.clinicalgenome.org/kb/genes/HGNC:8140","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (06/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e72abd1-4b0a-4f66-b681-7a51d4467026-2021-06-14T152117.821Z","Mitochondrial Diseases","","",""
"OPA1","HGNC:8140","https://search.clinicalgenome.org/kb/genes/HGNC:8140","OPA1-related optic atrophy with or without extraocular features","MONDO:0800181","https://search.clinicalgenome.org/kb/conditions/MONDO:0800181","Semidominant inheritance","","","","","definitive evidence (11/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc3f3ec8-0394-4732-bb4b-d75aaa5bdbcb-2022-11-17T170000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"OPA3","HGNC:8142","https://search.clinicalgenome.org/kb/genes/HGNC:8142","optic atrophy 3","MONDO:0008133","https://search.clinicalgenome.org/kb/conditions/MONDO:0008133","Autosomal dominant inheritance","","","","","moderate evidence (04/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_43fa9b49-eca7-44a2-a767-c35ac42cf62f-2024-04-18T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"OPHN1","HGNC:8148","https://search.clinicalgenome.org/kb/genes/HGNC:8148","X-linked intellectual disability-cerebellar hypoplasia syndrome","MONDO:0010337","https://search.clinicalgenome.org/kb/conditions/MONDO:0010337","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/22/2023)","0 - No Evidence for Triplosensitivity (03/22/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8148","Dosage Working Group","definitive evidence (08/24/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0cb6e45b-501d-4a6f-b76b-b50d92d48f16-2023-08-24T060000.000Z","Intellectual Disability and Autism","","",""
"OPTN","HGNC:17142","https://search.clinicalgenome.org/kb/genes/HGNC:17142","amyotrophic lateral sclerosis type 12","MONDO:0013264","https://search.clinicalgenome.org/kb/conditions/MONDO:0013264","Semidominant inheritance","","","","","definitive evidence (05/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d8edc80-413c-4c76-bf06-89198175ac65-2022-05-10T170000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"OPTN","HGNC:17142","https://search.clinicalgenome.org/kb/genes/HGNC:17142","glaucoma, normal tension, susceptibility to","MONDO:0011693","https://search.clinicalgenome.org/kb/conditions/MONDO:0011693","Autosomal dominant inheritance","","","","","definitive evidence (11/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22efb828-c989-4584-97f9-e1d795b7468f-2022-11-17T170000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"ORAI1","HGNC:25896","https://search.clinicalgenome.org/kb/genes/HGNC:25896","tubular aggregate myopathy","MONDO:0008051","https://search.clinicalgenome.org/kb/conditions/MONDO:0008051","Autosomal dominant inheritance","","","","","definitive evidence (07/13/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb8d614e-e8ff-4f16-bba3-6fc35ea56e8a-2020-07-13T164919.164Z","Congenital Myopathies","","",""
"ORC4","HGNC:8490","https://search.clinicalgenome.org/kb/genes/HGNC:8490","Meier-Gorlin syndrome 2","MONDO:0013428","https://search.clinicalgenome.org/kb/conditions/MONDO:0013428","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/06/2015)","0 - No Evidence for Triplosensitivity (11/06/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8490","Dosage Working Group","moderate evidence (06/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d00eb95c-5496-4051-a4e1-c327b71fe6e4-2025-06-30T160000.000Z","Syndromic Disorders","","",""
"ORC6","HGNC:17151","https://search.clinicalgenome.org/kb/genes/HGNC:17151","Meier-Gorlin syndrome 3","MONDO:0013430","https://search.clinicalgenome.org/kb/conditions/MONDO:0013430","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17151","Dosage Working Group","definitive evidence (07/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0054af97-33ac-4c63-8871-d948d6d184d9-2023-07-21T160000.000Z","Syndromic Disorders","","",""
"OSBPL2","HGNC:15761","https://search.clinicalgenome.org/kb/genes/HGNC:15761","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","moderate evidence (02/06/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a493a4c4-3a9f-431a-a68e-d90d9a11b6f0-2020-02-06T172031.658Z","Hearing Loss","","",""
"OSR1","HGNC:8111","https://search.clinicalgenome.org/kb/genes/HGNC:8111","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (04/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1353bd05-2078-40c0-b339-5c786c3997b1-2024-04-08T170000.000Z","Congenital Heart Disease","","",""
"OSTM1","HGNC:21652","https://search.clinicalgenome.org/kb/genes/HGNC:21652","autosomal recessive osteopetrosis 5","MONDO:0009817","https://search.clinicalgenome.org/kb/conditions/MONDO:0009817","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21652","Dosage Working Group","definitive evidence (06/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25959d42-dae2-47e8-a14c-4fcbd7540491-2024-06-10T160000.000Z","Skeletal Disorders","","",""
"OTC","HGNC:8512","https://search.clinicalgenome.org/kb/genes/HGNC:8512","ornithine carbamoyltransferase deficiency","MONDO:0010703","https://search.clinicalgenome.org/kb/conditions/MONDO:0010703","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/28/2012)","0 - No Evidence for Triplosensitivity (06/28/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8512","Dosage Working Group","definitive evidence (10/29/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_132fafbf-bb34-447c-9f6a-65803679eeb8-2019-10-29T181325.783Z","Aminoacidopathy","Strong Actionability (11/16/2021) | Definitive Actionability (11/16/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC112 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC112"," | "
"OTOA","HGNC:16378","https://search.clinicalgenome.org/kb/genes/HGNC:16378","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16378","Dosage Working Group","definitive evidence (05/01/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_87661be2-f024-49bb-a60e-a906f7f113b7-2018-05-01T040000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"OTOA","HGNC:16378","https://search.clinicalgenome.org/kb/genes/HGNC:16378","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16378","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"OTOA","HGNC:16378","https://search.clinicalgenome.org/kb/genes/HGNC:16378","autosomal recessive nonsyndromic hearing loss 22","MONDO:0011762","https://search.clinicalgenome.org/kb/conditions/MONDO:0011762","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16378","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"OTOA","HGNC:16378","https://search.clinicalgenome.org/kb/genes/HGNC:16378","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16378","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"OTOF","HGNC:8515","https://search.clinicalgenome.org/kb/genes/HGNC:8515","autosomal recessive nonsyndromic hearing loss 9","MONDO:0010986","https://search.clinicalgenome.org/kb/conditions/MONDO:0010986","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8515","Dosage Working Group","definitive evidence (01/30/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5613","Hearing Loss","","",""
"OTOG","HGNC:8516","https://search.clinicalgenome.org/kb/genes/HGNC:8516","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","definitive evidence (06/28/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0fac4fd4-d674-4017-a9a6-1d6793162c6b-2018-06-28T160000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"OTOG","HGNC:8516","https://search.clinicalgenome.org/kb/genes/HGNC:8516","autosomal recessive nonsyndromic hearing loss 18B","MONDO:0013985","https://search.clinicalgenome.org/kb/conditions/MONDO:0013985","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"OTOG","HGNC:8516","https://search.clinicalgenome.org/kb/genes/HGNC:8516","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"OTOG","HGNC:8516","https://search.clinicalgenome.org/kb/genes/HGNC:8516","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"OTOGL","HGNC:26901","https://search.clinicalgenome.org/kb/genes/HGNC:26901","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26901","Dosage Working Group","definitive evidence (01/05/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28b962a1-8394-4366-8746-4b71a59cd60b-2018-01-05T170000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"OTOGL","HGNC:26901","https://search.clinicalgenome.org/kb/genes/HGNC:26901","autosomal recessive nonsyndromic hearing loss 84B","MONDO:0013984","https://search.clinicalgenome.org/kb/conditions/MONDO:0013984","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26901","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"OTOGL","HGNC:26901","https://search.clinicalgenome.org/kb/genes/HGNC:26901","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26901","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"OTOGL","HGNC:26901","https://search.clinicalgenome.org/kb/genes/HGNC:26901","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26901","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"OTUD5","HGNC:25402","https://search.clinicalgenome.org/kb/genes/HGNC:25402","multiple congenital anomalies-neurodevelopmental syndrome, X-linked","MONDO:0025351","https://search.clinicalgenome.org/kb/conditions/MONDO:0025351","X-linked inheritance","","","","","moderate evidence (07/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a19f1fb-a027-4580-92e5-936b8ca10692-2024-07-19T160000.000Z","Syndromic Disorders","","",""
"OTUD6B","HGNC:24281","https://search.clinicalgenome.org/kb/genes/HGNC:24281","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal recessive inheritance","","","","","definitive evidence (08/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c60103c-7d9b-4dca-aa03-151130c5d6db-2024-08-22T160000.000Z","Intellectual Disability and Autism","","",""
"OTUD7A","HGNC:20718","https://search.clinicalgenome.org/kb/genes/HGNC:20718","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (04/27/2018)","0 - No Evidence for Triplosensitivity (04/27/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20718","Dosage Working Group","limited evidence (06/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d6ba704-2333-4f70-9f74-54dfea711e5b-2023-06-06T050000.000Z","Epilepsy","","",""
"OTX2","HGNC:8522","https://search.clinicalgenome.org/kb/genes/HGNC:8522","syndromic microphthalmia type 5","MONDO:0012413","https://search.clinicalgenome.org/kb/conditions/MONDO:0012413","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/08/2020)","0 - No Evidence for Triplosensitivity (09/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8522","Dosage Working Group","","","","","",""
"OXCT1","HGNC:8527","https://search.clinicalgenome.org/kb/genes/HGNC:8527","succinyl-CoA:3-ketoacid CoA transferase deficiency","MONDO:0009492","https://search.clinicalgenome.org/kb/conditions/MONDO:0009492","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8527","Dosage Working Group","","","","","",""
"P2RX2","HGNC:15459","https://search.clinicalgenome.org/kb/genes/HGNC:15459","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","moderate evidence (09/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1dae6b6-4ed7-4c5a-ba4e-bcfaba026be8-2022-09-21T160000.000Z","Hearing Loss","","",""
"P2RY12","HGNC:18124","https://search.clinicalgenome.org/kb/genes/HGNC:18124","platelet-type bleeding disorder 8","MONDO:0012354","https://search.clinicalgenome.org/kb/conditions/MONDO:0012354","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","moderate evidence (04/03/2023) | moderate evidence (04/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81c56aba-1414-4365-a8de-847c080251f3-2023-04-03T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b61af44-1fb4-4c7d-94b2-f21903793162-2023-04-03T170000.000Z","Hemostasis Thrombosis | Hemostasis Thrombosis","","",""
"P3H1","HGNC:19316","https://search.clinicalgenome.org/kb/genes/HGNC:19316","osteogenesis imperfecta type 8","MONDO:0012581","https://search.clinicalgenome.org/kb/conditions/MONDO:0012581","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/12/2015)","0 - No Evidence for Triplosensitivity (03/12/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19316","Dosage Working Group","","","","","",""
"PACS1","HGNC:30032","https://search.clinicalgenome.org/kb/genes/HGNC:30032","Schuurs-Hoeijmakers syndrome","MONDO:0014006","https://search.clinicalgenome.org/kb/conditions/MONDO:0014006","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (12/14/2021)","0 - No Evidence for Triplosensitivity (12/14/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30032","Dosage Working Group","definitive evidence (06/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5fb6cba-cff6-4498-a725-3f863a910cf1-2020-06-26T182716.855Z","Intellectual Disability and Autism","","",""
"PACS2","HGNC:23794","https://search.clinicalgenome.org/kb/genes/HGNC:23794","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","","","","","definitive evidence (05/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec03c5b9-b82a-4a4e-a4f5-41dba55ac50f-2024-05-01T160000.000Z","Intellectual Disability and Autism","","",""
"PAFAH1B1","HGNC:8574","https://search.clinicalgenome.org/kb/genes/HGNC:8574","classic lissencephaly","MONDO:0015146","https://search.clinicalgenome.org/kb/conditions/MONDO:0015146","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2020)","0 - No Evidence for Triplosensitivity (10/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8574","Dosage Working Group","","","","","",""
"PAH","HGNC:8582","https://search.clinicalgenome.org/kb/genes/HGNC:8582","phenylketonuria","MONDO:0009861","https://search.clinicalgenome.org/kb/conditions/MONDO:0009861","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/28/2014)","0 - No Evidence for Triplosensitivity (08/28/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8582","Dosage Working Group","definitive evidence (04/24/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a617cb4-94ec-4f34-b97e-10d9808a1581-2020-04-24T160000.000Z","Aminoacidopathy","Limited Actionability (03/27/2023) | Definitive Actionability (03/27/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC110 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC110"," | "
"PAH","HGNC:8582","https://search.clinicalgenome.org/kb/genes/HGNC:8582","tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria","MONDO:0017389","https://search.clinicalgenome.org/kb/conditions/MONDO:0017389","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/28/2014)","0 - No Evidence for Triplosensitivity (08/28/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8582","Dosage Working Group","","","","Limited Actionability (03/27/2023) | Definitive Actionability (03/27/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC110 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC110"," | "
"PAH","HGNC:8582","https://search.clinicalgenome.org/kb/genes/HGNC:8582","maternal phenylketonuria","MONDO:0016366","https://search.clinicalgenome.org/kb/conditions/MONDO:0016366","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/28/2014)","0 - No Evidence for Triplosensitivity (08/28/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8582","Dosage Working Group","","","","Limited Actionability (03/27/2023) | Definitive Actionability (03/27/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC110 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC110"," | "
"PAH","HGNC:8582","https://search.clinicalgenome.org/kb/genes/HGNC:8582","mild phenylketonuria","MONDO:0019258","https://search.clinicalgenome.org/kb/conditions/MONDO:0019258","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/28/2014)","0 - No Evidence for Triplosensitivity (08/28/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8582","Dosage Working Group","","","","Limited Actionability (03/27/2023) | Definitive Actionability (03/27/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC110 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC110"," | "
"PAH","HGNC:8582","https://search.clinicalgenome.org/kb/genes/HGNC:8582","classic phenylketonuria","MONDO:0019259","https://search.clinicalgenome.org/kb/conditions/MONDO:0019259","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/28/2014)","0 - No Evidence for Triplosensitivity (08/28/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8582","Dosage Working Group","","","","Limited Actionability (03/27/2023) | Definitive Actionability (03/27/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC110 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC110"," | "
"PAH","HGNC:8582","https://search.clinicalgenome.org/kb/genes/HGNC:8582","mild hyperphenylalaninemia","MONDO:0019335","https://search.clinicalgenome.org/kb/conditions/MONDO:0019335","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/28/2014)","0 - No Evidence for Triplosensitivity (08/28/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8582","Dosage Working Group","","","","Limited Actionability (03/27/2023) | Definitive Actionability (03/27/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC110 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC110"," | "
"PAK3","HGNC:8592","https://search.clinicalgenome.org/kb/genes/HGNC:8592","X-linked syndromic intellectual disability","MONDO:0020119","https://search.clinicalgenome.org/kb/conditions/MONDO:0020119","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/01/2025)","0 - No Evidence for Triplosensitivity (04/01/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8592","Dosage Working Group","definitive evidence (07/30/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2f13863-a52d-49bd-b7f6-294edd73717a-2018-07-30T220000.000Z","Intellectual Disability and Autism","","",""
"PALB2","HGNC:26144","https://search.clinicalgenome.org/kb/genes/HGNC:26144","Fanconi anemia complementation group N","MONDO:0012565","https://search.clinicalgenome.org/kb/conditions/MONDO:0012565","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/24/2025)","0 - No Evidence for Triplosensitivity (02/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26144","Dosage Working Group","definitive evidence (08/18/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ebabbf1-1a43-4a57-b0b8-2b29bb57ade1-2019-08-18T160312.829Z","Hereditary Cancer","Moderate Actionability (10/28/2019) | Moderate Actionability (10/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1008 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1008"," | "
"PALB2","HGNC:26144","https://search.clinicalgenome.org/kb/genes/HGNC:26144","PALB2-related cancer predisposition","MONDO:0700272","https://search.clinicalgenome.org/kb/conditions/MONDO:0700272","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/24/2025)","0 - No Evidence for Triplosensitivity (02/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26144","Dosage Working Group","definitive evidence (08/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b067d463-b881-4f67-b3a6-2924903fc119-2024-08-29T170000.000Z","Hereditary Cancer","","",""
"PALB2","HGNC:26144","https://search.clinicalgenome.org/kb/genes/HGNC:26144","breast-ovarian cancer, familial, susceptibility to, 5","MONDO:0957530","https://search.clinicalgenome.org/kb/conditions/MONDO:0957530","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/24/2025)","0 - No Evidence for Triplosensitivity (02/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26144","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021) | Strong Actionability (09/19/2017)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC108 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC108"," | "
"PALB2","HGNC:26144","https://search.clinicalgenome.org/kb/genes/HGNC:26144","Fanconi anemia","MONDO:0019391","https://search.clinicalgenome.org/kb/conditions/MONDO:0019391","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/24/2025)","0 - No Evidence for Triplosensitivity (02/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26144","Dosage Working Group","","","","Moderate Actionability (10/28/2019) | Moderate Actionability (10/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1008 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1008"," | "
"PARK7","HGNC:16369","https://search.clinicalgenome.org/kb/genes/HGNC:16369","Parkinson disease","MONDO:0005180","https://search.clinicalgenome.org/kb/conditions/MONDO:0005180","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16369","Dosage Working Group","definitive evidence (06/27/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d79439d2-844b-4ba6-aceb-e6b179eaaa01-2022-06-27T160000.000Z","Parkinson's Disease","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"PARK7","HGNC:16369","https://search.clinicalgenome.org/kb/genes/HGNC:16369","young-onset Parkinson disease","MONDO:0017279","https://search.clinicalgenome.org/kb/conditions/MONDO:0017279","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16369","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"PARK7","HGNC:16369","https://search.clinicalgenome.org/kb/genes/HGNC:16369","autosomal recessive early-onset Parkinson disease 7","MONDO:0011658","https://search.clinicalgenome.org/kb/conditions/MONDO:0011658","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16369","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"PARN","HGNC:8609","https://search.clinicalgenome.org/kb/genes/HGNC:8609","pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4","MONDO:0014612","https://search.clinicalgenome.org/kb/conditions/MONDO:0014612","Semidominant inheritance","","","","","definitive evidence (10/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41fad60d-6ec1-4888-9072-f5135b68aad6-2024-10-25T160000.000Z","Interstitial Lung Disease","","",""
"PARS2","HGNC:30563","https://search.clinicalgenome.org/kb/genes/HGNC:30563","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (06/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b8d59b26-84ba-413d-a79f-27903c863356-2022-06-16T160000.000Z","Mitochondrial Diseases","","",""
"PAX1","HGNC:8615","https://search.clinicalgenome.org/kb/genes/HGNC:8615","otofaciocervical syndrome 2","MONDO:0014254","https://search.clinicalgenome.org/kb/conditions/MONDO:0014254","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8615","Dosage Working Group","definitive evidence (11/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29856f7d-7c10-48cc-a74f-b014c56c4f0c-2023-11-16T180000.000Z","SCID-CID","","",""
"PAX2","HGNC:8616","https://search.clinicalgenome.org/kb/genes/HGNC:8616","focal segmental glomerulosclerosis 7","MONDO:0014451","https://search.clinicalgenome.org/kb/conditions/MONDO:0014451","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/26/2020)","0 - No Evidence for Triplosensitivity (02/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8616","Dosage Working Group","definitive evidence (09/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed6df631-4153-4f76-9bdd-073ed4cb68a2-2021-09-13T023000.000Z","Glomerulopathy","","",""
"PAX2","HGNC:8616","https://search.clinicalgenome.org/kb/genes/HGNC:8616","renal coloboma syndrome","MONDO:0007352","https://search.clinicalgenome.org/kb/conditions/MONDO:0007352","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/26/2020)","0 - No Evidence for Triplosensitivity (02/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8616","Dosage Working Group","","","","","",""
"PAX3","HGNC:8617","https://search.clinicalgenome.org/kb/genes/HGNC:8617","Waardenburg syndrome","MONDO:0018094","https://search.clinicalgenome.org/kb/conditions/MONDO:0018094","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/27/2020)","0 - No Evidence for Triplosensitivity (05/27/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8617","Dosage Working Group","definitive evidence (11/15/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_594ef026-3730-43bc-b721-d15cf0bbbf26-2017-11-15T050000.000Z","Hearing Loss","","",""
"PAX3","HGNC:8617","https://search.clinicalgenome.org/kb/genes/HGNC:8617","Waardenburg syndrome type 1","MONDO:0008670","https://search.clinicalgenome.org/kb/conditions/MONDO:0008670","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/27/2020)","0 - No Evidence for Triplosensitivity (05/27/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8617","Dosage Working Group","","","","","",""
"PAX4","HGNC:8618","https://search.clinicalgenome.org/kb/genes/HGNC:8618","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Autosomal dominant inheritance","","","","","refuting evidence (12/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2e54103-c1c4-4095-8a12-d602e5326d90-2022-12-13T170000.000Z","Monogenic Diabetes","","",""
"PAX5","HGNC:8619","https://search.clinicalgenome.org/kb/genes/HGNC:8619","PAX5-related B lymphopenia and autism spectrum disorder","MONDO:0100299","https://search.clinicalgenome.org/kb/conditions/MONDO:0100299","Autosomal recessive inheritance","1 - Little Evidence for Haploinsufficiency (02/12/2025)","0 - No Evidence for Triplosensitivity (02/12/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8619","Dosage Working Group","moderate evidence (02/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_111b7453-55ff-4638-9cb7-1936400ec2a4-2023-02-28T170000.000Z","Antibody Deficiencies GCEP","","",""
"PAX5","HGNC:8619","https://search.clinicalgenome.org/kb/genes/HGNC:8619","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (02/12/2025)","0 - No Evidence for Triplosensitivity (02/12/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8619","Dosage Working Group","","","","","",""
"PAX6","HGNC:8620","https://search.clinicalgenome.org/kb/genes/HGNC:8620","PAX6-related ocular dysgenesis","MONDO:0800183","https://search.clinicalgenome.org/kb/conditions/MONDO:0800183","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/05/2015)","1 - Little Evidence for Triplosensitivity (11/05/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8620","Dosage Working Group","definitive evidence (06/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e83f7da-f70f-4f06-a9f9-52bd20219088-2022-06-02T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"PAX6","HGNC:8620","https://search.clinicalgenome.org/kb/genes/HGNC:8620","aniridia 1","MONDO:0024507","https://search.clinicalgenome.org/kb/conditions/MONDO:0024507","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/05/2015)","1 - Little Evidence for Triplosensitivity (11/05/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8620","Dosage Working Group","","","","","",""
"PAX7","HGNC:8621","https://search.clinicalgenome.org/kb/genes/HGNC:8621","congenital myopathy with myasthenic-like onset","MONDO:0018528","https://search.clinicalgenome.org/kb/conditions/MONDO:0018528","Autosomal recessive inheritance","","","","","moderate evidence (03/31/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_684596b8-b8c4-40e5-8ab6-8b23cac49be5-2024-03-31T160000.000Z","Syndromic Disorders","","",""
"PAX8","HGNC:8622","https://search.clinicalgenome.org/kb/genes/HGNC:8622","congenital hypothyroidism","MONDO:0018612","https://search.clinicalgenome.org/kb/conditions/MONDO:0018612","N/A","1 - Little Evidence for Haploinsufficiency (11/09/2021)","0 - No Evidence for Triplosensitivity (11/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8622","Dosage Working Group","","","","","",""
"PAX9","HGNC:8623","https://search.clinicalgenome.org/kb/genes/HGNC:8623","tooth agenesis, selective, 3","MONDO:0011477","https://search.clinicalgenome.org/kb/conditions/MONDO:0011477","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/08/2020)","0 - No Evidence for Triplosensitivity (07/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8623","Dosage Working Group","definitive evidence (04/17/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d09376b-6dac-4175-a048-c1829e75a5ae-2025-04-17T160000.000Z","Craniofacial Malformations","","",""
"PBX1","HGNC:8632","https://search.clinicalgenome.org/kb/genes/HGNC:8632","congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay","MONDO:0060549","https://search.clinicalgenome.org/kb/conditions/MONDO:0060549","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/05/2019)","0 - No Evidence for Triplosensitivity (09/05/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8632","Dosage Working Group","definitive evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28186515-9751-4137-a631-5addc51461b9-2023-05-30T160000.000Z","Syndromic Disorders","","",""
"PC","HGNC:8636","https://search.clinicalgenome.org/kb/genes/HGNC:8636","pyruvate carboxylase deficiency disease","MONDO:0009949","https://search.clinicalgenome.org/kb/conditions/MONDO:0009949","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8636","Dosage Working Group","","","","","",""
"PCARE","HGNC:34383","https://search.clinicalgenome.org/kb/genes/HGNC:34383","PCARE-related retinopathy","MONDO:0800404","https://search.clinicalgenome.org/kb/conditions/MONDO:0800404","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/25/2014)","0 - No Evidence for Triplosensitivity (09/25/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:34383","Dosage Working Group","definitive evidence (10/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afbc5168-51f6-4f69-bf41-41b9a1d9d665-2022-10-06T160000.000Z","Retina","","",""
"PCARE","HGNC:34383","https://search.clinicalgenome.org/kb/genes/HGNC:34383","retinitis pigmentosa 54","MONDO:0013263","https://search.clinicalgenome.org/kb/conditions/MONDO:0013263","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (09/25/2014)","0 - No Evidence for Triplosensitivity (09/25/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:34383","Dosage Working Group","","","","","",""
"PCBD1","HGNC:8646","https://search.clinicalgenome.org/kb/genes/HGNC:8646","pterin-4 alpha-carbinolamine dehydratase 1 deficiency","MONDO:0009908","https://search.clinicalgenome.org/kb/conditions/MONDO:0009908","Autosomal recessive inheritance","","","","","definitive evidence (07/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d305c30f-50c1-491a-846f-4af6a2ad8aff-2021-07-27T160000.000Z","Aminoacidopathy","","",""
"PCCA","HGNC:8653","https://search.clinicalgenome.org/kb/genes/HGNC:8653","propionic acidemia","MONDO:0011628","https://search.clinicalgenome.org/kb/conditions/MONDO:0011628","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8653","Dosage Working Group","definitive evidence (12/13/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32a55e25-8632-4f31-84af-3eaf8098ca18-2018-12-13T170000.000Z","Aminoacidopathy","","",""
"PCCB","HGNC:8654","https://search.clinicalgenome.org/kb/genes/HGNC:8654","propionic acidemia","MONDO:0011628","https://search.clinicalgenome.org/kb/conditions/MONDO:0011628","Autosomal recessive inheritance","","","","","definitive evidence (12/13/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1cd49a9b-08c2-49db-8e97-e334f171e34d-2018-12-13T170000.000Z","Aminoacidopathy","","",""
"PCDH15","HGNC:14674","https://search.clinicalgenome.org/kb/genes/HGNC:14674","Usher syndrome type 1","MONDO:0010168","https://search.clinicalgenome.org/kb/conditions/MONDO:0010168","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14674","Dosage Working Group","definitive evidence (02/15/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5657","Hearing Loss","","",""
"PCDH15","HGNC:14674","https://search.clinicalgenome.org/kb/genes/HGNC:14674","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14674","Dosage Working Group","limited evidence (06/19/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48910592-40d6-4eb7-a53c-4b0883070287-2018-06-19T040000.000Z","Hearing Loss","","",""
"PCDH15","HGNC:14674","https://search.clinicalgenome.org/kb/genes/HGNC:14674","Usher syndrome type 1F","MONDO:0011186","https://search.clinicalgenome.org/kb/conditions/MONDO:0011186","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14674","Dosage Working Group","","","","","",""
"PCDH19","HGNC:14270","https://search.clinicalgenome.org/kb/genes/HGNC:14270","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/14/2023)","0 - No Evidence for Triplosensitivity (02/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14270","Dosage Working Group","definitive evidence (09/04/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c00aad39-c6c4-4a46-af84-613592b166a3-2018-09-04T160000.000Z","Epilepsy","","",""
"PCDH19","HGNC:14270","https://search.clinicalgenome.org/kb/genes/HGNC:14270","","Mondo:0100148","https://search.clinicalgenome.org/kb/conditions/Mondo:0100148","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/14/2023)","0 - No Evidence for Triplosensitivity (02/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14270","Dosage Working Group","","","","","",""
"PCGF2","HGNC:12929","https://search.clinicalgenome.org/kb/genes/HGNC:12929","turnpenny-fry syndrome","MONDO:0032707","https://search.clinicalgenome.org/kb/conditions/MONDO:0032707","Autosomal dominant inheritance","","","","","strong evidence (04/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58b289b7-f842-4a32-a1fa-2777455fbd27-2022-04-08T074229.379Z","Syndromic Disorders","","",""
"PCNA","HGNC:8729","https://search.clinicalgenome.org/kb/genes/HGNC:8729","hereditary ataxia","MONDO:0100309","https://search.clinicalgenome.org/kb/conditions/MONDO:0100309","Autosomal recessive inheritance","","","","","limited evidence (04/09/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c973fb0e-6e8d-4602-8b53-d58eca77cf1a-2025-04-09T160000.000Z","Cerebellar Ataxia","","",""
"PCNT","HGNC:16068","https://search.clinicalgenome.org/kb/genes/HGNC:16068","microcephalic osteodysplastic primordial dwarfism type II","MONDO:0008872","https://search.clinicalgenome.org/kb/conditions/MONDO:0008872","Autosomal recessive inheritance","","","","","definitive evidence (09/27/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a99c487-44c9-40be-9282-0ba9c91f6f4a-2024-09-27T160000.000Z","Skeletal Disorders","","",""
"PCSK5","HGNC:8747","https://search.clinicalgenome.org/kb/genes/HGNC:8747","syndromic congenital heart disease","MONDO:0100614","https://search.clinicalgenome.org/kb/conditions/MONDO:0100614","Autosomal dominant inheritance","","","","","disputing (04/01/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ade0db44-62b3-49b4-ab3d-63f410619b8e-2025-04-01T160000.000Z","Congenital Heart Disease","","",""
"PCSK6","HGNC:8569","https://search.clinicalgenome.org/kb/genes/HGNC:8569","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Mode of inheritance","","","","","no known disease relationship (05/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0c9c7d3-5568-46c1-b90e-b0acba36a20e-2024-05-13T050000.000Z","Congenital Heart Disease","","",""
"PCSK9","HGNC:20001","https://search.clinicalgenome.org/kb/genes/HGNC:20001","hypercholesterolemia, autosomal dominant, 3","MONDO:0011369","https://search.clinicalgenome.org/kb/conditions/MONDO:0011369","Autosomal dominant inheritance","40 - Dosage Sensitivity Unlikely for Haploinsufficiency (12/17/2015)","0 - No Evidence for Triplosensitivity (12/17/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20001","Dosage Working Group","definitive evidence (11/14/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf710ddc-c189-419f-ab70-25300b067db2-2018-11-14T170000.000Z","General Gene Curation","Strong Actionability (08/03/2020) | Strong Actionability (08/03/2020) | Strong Actionability (08/03/2020) | Definitive Actionability (08/03/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC057 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC065 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC065 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC057"," |  |  | "
"PCSK9","HGNC:20001","https://search.clinicalgenome.org/kb/genes/HGNC:20001","homozygous familial hypercholesterolemia","MONDO:0018328","https://search.clinicalgenome.org/kb/conditions/MONDO:0018328","N/A","40 - Dosage Sensitivity Unlikely for Haploinsufficiency (12/17/2015)","0 - No Evidence for Triplosensitivity (12/17/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20001","Dosage Working Group","","","","Strong Actionability (08/03/2020) | Strong Actionability (08/03/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC065 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC065"," | "
"PCYT1A","HGNC:8754","https://search.clinicalgenome.org/kb/genes/HGNC:8754","spondylometaphyseal dysplasia-cone-rod dystrophy syndrome","MONDO:0012160","https://search.clinicalgenome.org/kb/conditions/MONDO:0012160","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8754","Dosage Working Group","definitive evidence (07/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eff306ea-95ff-4b4e-8597-f50849b1b4c2-2021-07-26T183711.748Z","Retina","","",""
"PDCD1","HGNC:8760","https://search.clinicalgenome.org/kb/genes/HGNC:8760","autoimmune disease","MONDO:0007179","https://search.clinicalgenome.org/kb/conditions/MONDO:0007179","Autosomal recessive inheritance","","","","","limited evidence (02/02/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d444b18e-13e7-41dc-874c-eec705f26708-2025-02-02T100000.000Z","Primary Immune Regulatory Disorders","","",""
"PDCD10","HGNC:8761","https://search.clinicalgenome.org/kb/genes/HGNC:8761","cerebral cavernous malformation 3","MONDO:0011305","https://search.clinicalgenome.org/kb/conditions/MONDO:0011305","N/A","","","","","","","","Limited Actionability (04/04/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC116",""
"PDCD10","HGNC:8761","https://search.clinicalgenome.org/kb/genes/HGNC:8761","famililal cerebral cavernous malformations","MONDO:0031037","https://search.clinicalgenome.org/kb/conditions/MONDO:0031037","N/A","","","","","","","","Limited Actionability (04/04/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC116",""
"PDCD10","HGNC:8761","https://search.clinicalgenome.org/kb/genes/HGNC:8761","cerebral cavernous malformation","MONDO:0000820","https://search.clinicalgenome.org/kb/conditions/MONDO:0000820","N/A","","","","","","","","Limited Actionability (04/04/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC116",""
"PDE6A","HGNC:8785","https://search.clinicalgenome.org/kb/genes/HGNC:8785","PDE6A-related retinopathy","MONDO:0700224","https://search.clinicalgenome.org/kb/conditions/MONDO:0700224","Autosomal recessive inheritance","","","","","definitive evidence (12/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_165bc0fc-d0ce-4a74-a953-8d4687fbaa96-2022-12-01T170000.000Z","Retina","","",""
"PDE6B","HGNC:8786","https://search.clinicalgenome.org/kb/genes/HGNC:8786","inherited retinal dystrophy","MONDO:0019118","https://search.clinicalgenome.org/kb/conditions/MONDO:0019118","Autosomal recessive inheritance","","","","","definitive evidence (01/02/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37b033e5-4fb5-4338-b64e-81855262d75b-2025-01-02T170000.000Z","Retina","","",""
"PDE6C","HGNC:8787","https://search.clinicalgenome.org/kb/genes/HGNC:8787","PDE6C-related retinopathy","MONDO:1040028","https://search.clinicalgenome.org/kb/conditions/MONDO:1040028","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8787","Dosage Working Group","definitive evidence (11/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73ed48ac-bdd6-4608-953d-773da6ade759-2023-11-02T160000.000Z","Retina","","",""
"PDE6C","HGNC:8787","https://search.clinicalgenome.org/kb/genes/HGNC:8787","cone dystrophy 4","MONDO:0013129","https://search.clinicalgenome.org/kb/conditions/MONDO:0013129","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8787","Dosage Working Group","","","","","",""
"PDE6G","HGNC:8789","https://search.clinicalgenome.org/kb/genes/HGNC:8789","PDE6G-related retinopathy","MONDO:1040034","https://search.clinicalgenome.org/kb/conditions/MONDO:1040034","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/29/2025)","0 - No Evidence for Triplosensitivity (05/29/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8789","Dosage Working Group","definitive evidence (06/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5b69965-33e0-4a8c-b5dd-faede6c39912-2024-06-06T160000.000Z","Retina","","",""
"PDGFD","HGNC:30620","https://search.clinicalgenome.org/kb/genes/HGNC:30620","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","limited evidence (11/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5da6fc7-e3a0-4de1-b69d-b86f312b48a1-2022-11-03T160000.000Z","Pulmonary Hypertension","","",""
"PDGFRA","HGNC:8803","https://search.clinicalgenome.org/kb/genes/HGNC:8803","gastrointestinal stromal tumor","MONDO:0011719","https://search.clinicalgenome.org/kb/conditions/MONDO:0011719","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (02/12/2025)","0 - No Evidence for Triplosensitivity (02/12/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8803","Dosage Working Group","definitive evidence (01/13/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08bbf13f-bc04-47a7-a3c5-1ec6abfc9190-2020-01-13T195509.878Z","Hereditary Cancer","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/02/2021)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1040",""
"PDGFRA","HGNC:8803","https://search.clinicalgenome.org/kb/genes/HGNC:8803","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (02/12/2025)","0 - No Evidence for Triplosensitivity (02/12/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8803","Dosage Working Group","limited evidence (03/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f40d874e-0c34-4ff6-8145-4b310a67a033-2024-03-11T160000.000Z","Congenital Heart Disease","","",""
"PDHA1","HGNC:8806","https://search.clinicalgenome.org/kb/genes/HGNC:8806","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/27/2022)","0 - No Evidence for Triplosensitivity (09/27/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8806","Dosage Working Group","definitive evidence (04/08/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a579324c-3586-4636-9192-c2ea29391a4e-2019-04-08T161203.224Z","Mitochondrial Diseases","","",""
"PDHA1","HGNC:8806","https://search.clinicalgenome.org/kb/genes/HGNC:8806","pyruvate dehydrogenase deficiency","MONDO:0019169","https://search.clinicalgenome.org/kb/conditions/MONDO:0019169","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/27/2022)","0 - No Evidence for Triplosensitivity (09/27/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8806","Dosage Working Group","","","","","",""
"PDHB","HGNC:8808","https://search.clinicalgenome.org/kb/genes/HGNC:8808","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (03/11/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_133f688f-b498-4f5e-bd9b-b3406880ddd4-2021-03-11T172853.362Z","Mitochondrial Diseases","","",""
"PDHX","HGNC:21350","https://search.clinicalgenome.org/kb/genes/HGNC:21350","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21350","Dosage Working Group","definitive evidence (03/11/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3608ac5e-4b1f-4bb5-aa0c-cc42a2262304-2021-03-11T174226.092Z","Mitochondrial Diseases","","",""
"PDHX","HGNC:21350","https://search.clinicalgenome.org/kb/genes/HGNC:21350","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21350","Dosage Working Group","definitive evidence (10/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a14c7cd-d88f-43c3-87c2-f3f4111788fd-2024-10-17T160000.000Z","Mitochondrial Diseases","","",""
"PDHX","HGNC:21350","https://search.clinicalgenome.org/kb/genes/HGNC:21350","pyruvate dehydrogenase E3-binding protein deficiency","MONDO:0009503","https://search.clinicalgenome.org/kb/conditions/MONDO:0009503","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21350","Dosage Working Group","","","","","",""
"PDK3","HGNC:8811","https://search.clinicalgenome.org/kb/genes/HGNC:8811","Charcot-Marie-Tooth disease X-linked dominant 6","MONDO:0010479","https://search.clinicalgenome.org/kb/conditions/MONDO:0010479","X-linked inheritance","","","","","definitive evidence (03/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_508a1db7-0cf1-4c28-9203-89a3f4d7438d-2024-03-14T160000.000Z","Charcot-Marie-Tooth","","",""
"PDLIM3","HGNC:20767","https://search.clinicalgenome.org/kb/genes/HGNC:20767","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","limited evidence (02/23/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76cba060-8080-42b1-b9ea-2193fea658b0-2023-02-23T170000.000Z","Hereditary Cardiovascular Disease","","",""
"PDLIM3","HGNC:20767","https://search.clinicalgenome.org/kb/genes/HGNC:20767","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","disputing (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78f8d362-f690-4319-912f-1bdceceacccd-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"PDP1","HGNC:9279","https://search.clinicalgenome.org/kb/genes/HGNC:9279","pyruvate dehydrogenase phosphatase deficiency","MONDO:0012120","https://search.clinicalgenome.org/kb/conditions/MONDO:0012120","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9279","Dosage Working Group","","","","","",""
"PDSS1","HGNC:17759","https://search.clinicalgenome.org/kb/genes/HGNC:17759","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (07/31/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afd9c803-3a72-443a-9ab7-dcb048aa5c6c-2023-07-31T040000.000Z","Mitochondrial Diseases","","",""
"PDSS2","HGNC:23041","https://search.clinicalgenome.org/kb/genes/HGNC:23041","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23041","Dosage Working Group","moderate evidence (03/11/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e0928f3-2b7d-4622-bc96-68a4d0078826-2021-03-11T172336.036Z","Mitochondrial Diseases","","",""
"PDSS2","HGNC:23041","https://search.clinicalgenome.org/kb/genes/HGNC:23041","coenzyme Q10 deficiency, primary, 3","MONDO:0013838","https://search.clinicalgenome.org/kb/conditions/MONDO:0013838","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23041","Dosage Working Group","","","","","",""
"PDX1","HGNC:6107","https://search.clinicalgenome.org/kb/genes/HGNC:6107","pancreatic agenesis 1","MONDO:0024547","https://search.clinicalgenome.org/kb/conditions/MONDO:0024547","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6107","Dosage Working Group","definitive evidence (06/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76ea8c1e-88ba-436a-8eca-0de131027033-2022-06-16T160000.000Z","Monogenic Diabetes","","",""
"PDX1","HGNC:6107","https://search.clinicalgenome.org/kb/genes/HGNC:6107","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6107","Dosage Working Group","moderate evidence (06/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5487c912-a653-411d-b640-a51c60f51fa6-2022-06-16T160000.000Z","Monogenic Diabetes","","",""
"PDZD7","HGNC:26257","https://search.clinicalgenome.org/kb/genes/HGNC:26257","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","Autosomal recessive inheritance","","","","","definitive evidence (04/26/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8406","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"PDZD7","HGNC:26257","https://search.clinicalgenome.org/kb/genes/HGNC:26257","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"PDZD7","HGNC:26257","https://search.clinicalgenome.org/kb/genes/HGNC:26257","hearing loss, autosomal recessive 57","MONDO:0033201","https://search.clinicalgenome.org/kb/conditions/MONDO:0033201","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"PDZD7","HGNC:26257","https://search.clinicalgenome.org/kb/genes/HGNC:26257","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"PEPD","HGNC:8840","https://search.clinicalgenome.org/kb/genes/HGNC:8840","prolidase deficiency","MONDO:0008221","https://search.clinicalgenome.org/kb/conditions/MONDO:0008221","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8840","Dosage Working Group","definitive evidence (04/01/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39a8e0bd-61aa-4e65-bb98-473d00e4a62b-2025-04-01T100000.000Z","Primary Immune Regulatory Disorders","","",""
"PET100","HGNC:40038","https://search.clinicalgenome.org/kb/genes/HGNC:40038","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (05/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33c546f5-a285-424b-9ae2-9ca4fc718c67-2019-05-20T191347.510Z","Mitochondrial Diseases","","",""
"PET117","HGNC:40045","https://search.clinicalgenome.org/kb/genes/HGNC:40045","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (05/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69d9bbe0-ba3f-44f0-b340-d6d824cb969f-2019-05-20T191805.361Z","Mitochondrial Diseases","","",""
"PEX1","HGNC:8850","https://search.clinicalgenome.org/kb/genes/HGNC:8850","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8850","Dosage Working Group","definitive evidence (09/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a345ba65-9dcd-43dd-a1c2-1778c1a921ea-2023-09-06T160000.000Z","Peroxisomal Disorders","","",""
"PEX10","HGNC:8851","https://search.clinicalgenome.org/kb/genes/HGNC:8851","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","","","","","definitive evidence (12/06/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0f7f094-ac3b-4309-ad8f-8e604f006485-2019-12-06T050000.000Z","Peroxisomal Disorders","","",""
"PEX11A","HGNC:8852","https://search.clinicalgenome.org/kb/genes/HGNC:8852","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","","","","","no known disease relationship (07/17/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f83cdb0-7fca-4bc5-b896-3201000364f9-2020-07-17T040000.000Z","Peroxisomal Disorders","","",""
"PEX11B","HGNC:8853","https://search.clinicalgenome.org/kb/genes/HGNC:8853","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8853","Dosage Working Group","definitive evidence (01/17/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93eacb33-b099-485d-bf8a-782479dc0a3b-2020-01-17T170000.000Z","Peroxisomal Disorders","","",""
"PEX11B","HGNC:8853","https://search.clinicalgenome.org/kb/genes/HGNC:8853","peroxisome biogenesis disorder 14B","MONDO:0013967","https://search.clinicalgenome.org/kb/conditions/MONDO:0013967","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8853","Dosage Working Group","","","","","",""
"PEX11G","HGNC:20208","https://search.clinicalgenome.org/kb/genes/HGNC:20208","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","","","","","no known disease relationship (08/06/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_932d75de-89f1-4ba6-8a2a-05f53ecdf097-2020-08-06T040000.000Z","Peroxisomal Disorders","","",""
"PEX12","HGNC:8854","https://search.clinicalgenome.org/kb/genes/HGNC:8854","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","","","","","definitive evidence (12/06/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_124c97b0-92ed-4921-a0b9-2ff33135139d-2019-12-06T170000.000Z","Peroxisomal Disorders","","",""
"PEX13","HGNC:8855","https://search.clinicalgenome.org/kb/genes/HGNC:8855","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","","","","","definitive evidence (10/04/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c662669-4eb8-45e3-8540-c394ea40c1b2-2019-10-04T160000.000Z","Peroxisomal Disorders","","",""
"PEX14","HGNC:8856","https://search.clinicalgenome.org/kb/genes/HGNC:8856","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8856","Dosage Working Group","definitive evidence (09/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_846efcc3-5456-4db3-9bc2-e441acb768cd-2019-09-20T160000.000Z","Peroxisomal Disorders","","",""
"PEX14","HGNC:8856","https://search.clinicalgenome.org/kb/genes/HGNC:8856","peroxisome biogenesis disorder 13A (Zellweger)","MONDO:0013952","https://search.clinicalgenome.org/kb/conditions/MONDO:0013952","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8856","Dosage Working Group","","","","","",""
"PEX16","HGNC:8857","https://search.clinicalgenome.org/kb/genes/HGNC:8857","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8857","Dosage Working Group","definitive evidence (01/13/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7506d938-efb4-416c-aafd-221251d00e6e-2020-01-13T170000.000Z","Peroxisomal Disorders","","",""
"PEX19","HGNC:9713","https://search.clinicalgenome.org/kb/genes/HGNC:9713","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","","","","","definitive evidence (04/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa073c77-0623-4e82-b5b2-9fcd0eb0dc6e-2023-04-27T160000.000Z","Peroxisomal Disorders","","",""
"PEX2","HGNC:9717","https://search.clinicalgenome.org/kb/genes/HGNC:9717","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","","","","","definitive evidence (02/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17bf1c4a-1775-40c6-a499-774c93827343-2020-02-07T170000.000Z","Peroxisomal Disorders","","",""
"PEX26","HGNC:22965","https://search.clinicalgenome.org/kb/genes/HGNC:22965","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:22965","Dosage Working Group","definitive evidence (02/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf6af95e-6696-420c-8731-d2e37ca6e692-2020-02-07T170000.000Z","Peroxisomal Disorders","","",""
"PEX3","HGNC:8858","https://search.clinicalgenome.org/kb/genes/HGNC:8858","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8858","Dosage Working Group","definitive evidence (11/01/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d53df483-c31a-4672-8a11-04d33d6df336-2019-11-01T160000.000Z","Peroxisomal Disorders","","",""
"PEX3","HGNC:8858","https://search.clinicalgenome.org/kb/genes/HGNC:8858","peroxisome biogenesis disorder 10B","MONDO:0054549","https://search.clinicalgenome.org/kb/conditions/MONDO:0054549","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8858","Dosage Working Group","","","","","",""
"PEX5","HGNC:9719","https://search.clinicalgenome.org/kb/genes/HGNC:9719","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","","","","","definitive evidence (01/17/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b49d9cfd-0e51-4219-84bb-76b4c9b99fa9-2020-01-17T170000.000Z","Peroxisomal Disorders","","",""
"PEX6","HGNC:8859","https://search.clinicalgenome.org/kb/genes/HGNC:8859","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","","","","","definitive evidence (09/06/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54df6fb2-b692-4ece-a525-ae0cfe243826-2019-09-06T160000.000Z","Peroxisomal Disorders","","",""
"PEX7","HGNC:8860","https://search.clinicalgenome.org/kb/genes/HGNC:8860","peroxisome biogenesis disorder","MONDO:0019234","https://search.clinicalgenome.org/kb/conditions/MONDO:0019234","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8860","Dosage Working Group","definitive evidence (02/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0796d69-b304-4670-b4a2-8785ff6fd161-2020-02-14T170000.000Z","Peroxisomal Disorders","","",""
"PEX7","HGNC:8860","https://search.clinicalgenome.org/kb/genes/HGNC:8860","peroxisome biogenesis disorder 9B","MONDO:0013945","https://search.clinicalgenome.org/kb/conditions/MONDO:0013945","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8860","Dosage Working Group","","","","","",""
"PFN1","HGNC:8881","https://search.clinicalgenome.org/kb/genes/HGNC:8881","amyotrophic lateral sclerosis type 18","MONDO:0013891","https://search.clinicalgenome.org/kb/conditions/MONDO:0013891","Autosomal dominant inheritance","","","","","definitive evidence (04/22/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_948de40f-2cef-4235-ae87-491c01ffe803-2021-04-22T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"PGAP3","HGNC:23719","https://search.clinicalgenome.org/kb/genes/HGNC:23719","hyperphosphatasia with intellectual disability syndrome 4","MONDO:0014318","https://search.clinicalgenome.org/kb/conditions/MONDO:0014318","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23719","Dosage Working Group","definitive evidence (09/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c63978db-fe31-489a-985c-6b353f0d5243-2023-09-05T060000.000Z","Intellectual Disability and Autism","","",""
"PGK1","HGNC:8896","https://search.clinicalgenome.org/kb/genes/HGNC:8896","glycogen storage disease due to phosphoglycerate kinase 1 deficiency","MONDO:0010392","https://search.clinicalgenome.org/kb/conditions/MONDO:0010392","N/A","1 - Little Evidence for Haploinsufficiency (09/10/2024)","0 - No Evidence for Triplosensitivity (09/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8896","Dosage Working Group","","","","","",""
"PGM1","HGNC:8905","https://search.clinicalgenome.org/kb/genes/HGNC:8905","PGM1-congenital disorder of glycosylation","MONDO:0013968","https://search.clinicalgenome.org/kb/conditions/MONDO:0013968","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8905","Dosage Working Group","definitive evidence (08/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ae8da5f-7a0b-45f5-b60e-20af39cc41c1-2023-08-02T160000.000Z","Congenital Disorders of Glycosylation","","",""
"PGM3","HGNC:8907","https://search.clinicalgenome.org/kb/genes/HGNC:8907","immunodeficiency 23","MONDO:0014353","https://search.clinicalgenome.org/kb/conditions/MONDO:0014353","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8907","Dosage Working Group","definitive evidence (09/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14a28aff-a00b-4aa3-a0b8-36e63493617e-2023-09-20T160000.000Z","Congenital Disorders of Glycosylation","","",""
"PHC1","HGNC:3182","https://search.clinicalgenome.org/kb/genes/HGNC:3182","microcephaly 11, primary, autosomal recessive","MONDO:0014173","https://search.clinicalgenome.org/kb/conditions/MONDO:0014173","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3182","Dosage Working Group","","","","","",""
"PHEX","HGNC:8918","https://search.clinicalgenome.org/kb/genes/HGNC:8918","X-linked dominant hypophosphatemic rickets","MONDO:0010619","https://search.clinicalgenome.org/kb/conditions/MONDO:0010619","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/28/2012)","0 - No Evidence for Triplosensitivity (06/28/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8918","Dosage Working Group","definitive evidence (05/15/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7b966545-e9dc-4a75-8d6a-91b328bc4854-2025-05-15T060000.000Z","Tubulopathy","Assertion Pending (11/05/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC009",""
"PHEX","HGNC:8918","https://search.clinicalgenome.org/kb/genes/HGNC:8918","X-linked hypophosphatemic rickets","MONDO:0020720","https://search.clinicalgenome.org/kb/conditions/MONDO:0020720","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/28/2012)","0 - No Evidence for Triplosensitivity (06/28/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8918","Dosage Working Group","","","","Assertion Pending (11/05/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC009",""
"PHF12","HGNC:20816","https://search.clinicalgenome.org/kb/genes/HGNC:20816","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/01/2025)","0 - No Evidence for Triplosensitivity (04/01/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20816","Dosage Working Group","definitive evidence (02/19/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_329aa190-d20e-4f6b-9c85-58242a8a2d33-2025-02-19T110000.000Z","Intellectual Disability and Autism","","",""
"PHF21A","HGNC:24156","https://search.clinicalgenome.org/kb/genes/HGNC:24156","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/21/2023)","0 - No Evidence for Triplosensitivity (09/21/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24156","Dosage Working Group","definitive evidence (04/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1312f4b-fcc2-46ca-9132-7592e46ae05f-2022-04-06T160000.000Z","Intellectual Disability and Autism","","",""
"PHF3","HGNC:8921","https://search.clinicalgenome.org/kb/genes/HGNC:8921","autism spectrum disorder","MONDO:0005258","https://search.clinicalgenome.org/kb/conditions/MONDO:0005258","N/A","1 - Little Evidence for Haploinsufficiency (02/27/2019)","0 - No Evidence for Triplosensitivity (02/27/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8921","Dosage Working Group","","","","","",""
"PHF6","HGNC:18145","https://search.clinicalgenome.org/kb/genes/HGNC:18145","Borjeson-Forssman-Lehmann syndrome","MONDO:0010537","https://search.clinicalgenome.org/kb/conditions/MONDO:0010537","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/24/2021)","0 - No Evidence for Triplosensitivity (02/24/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18145","Dosage Working Group","definitive evidence (02/21/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94ea5014-0a83-49ea-b001-fc2a8c24c0d9-2018-02-21T110000.000Z","Intellectual Disability and Autism","","",""
"PHF8","HGNC:20672","https://search.clinicalgenome.org/kb/genes/HGNC:20672","syndromic X-linked intellectual disability Siderius type","MONDO:0010286","https://search.clinicalgenome.org/kb/conditions/MONDO:0010286","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","0 - No Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20672","Dosage Working Group","definitive evidence (11/07/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9e94640-1950-4438-bcda-4859545d83d1-2018-11-07T110000.000Z","Intellectual Disability and Autism","","",""
"PHGDH","HGNC:8923","https://search.clinicalgenome.org/kb/genes/HGNC:8923","neurometabolic disorder due to serine deficiency","MONDO:0018162","https://search.clinicalgenome.org/kb/conditions/MONDO:0018162","Autosomal recessive inheritance","","","","","definitive evidence (06/29/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1b4e8da-d6e7-4494-abb0-f2953548a722-2020-06-29T160000.000Z","Aminoacidopathy","","",""
"PHIP","HGNC:15673","https://search.clinicalgenome.org/kb/genes/HGNC:15673","PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome","MONDO:0035133","https://search.clinicalgenome.org/kb/conditions/MONDO:0035133","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/13/2022)","0 - No Evidence for Triplosensitivity (04/13/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15673","Dosage Working Group","definitive evidence (04/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0635f61b-d8aa-428a-b4d3-0b2d116ece39-2022-04-19T160000.000Z","Intellectual Disability and Autism","","",""
"PHKA1","HGNC:8925","https://search.clinicalgenome.org/kb/genes/HGNC:8925","glycogen storage disease IXd","MONDO:0010362","https://search.clinicalgenome.org/kb/conditions/MONDO:0010362","X-linked inheritance","","","","","definitive evidence (01/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_acc3fc43-7f42-481e-957a-b10fd10df3d5-2025-01-10T170000.000Z","General Inborn Errors of Metabolism","","",""
"PHKB","HGNC:8927","https://search.clinicalgenome.org/kb/genes/HGNC:8927","glycogen storage disease IXb","MONDO:0009868","https://search.clinicalgenome.org/kb/conditions/MONDO:0009868","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8927","Dosage Working Group","definitive evidence (03/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0bc221ef-fafa-41c6-9b59-fab2b34241c4-2024-03-17T070000.000Z","General Inborn Errors of Metabolism","","",""
"PHKG2","HGNC:8931","https://search.clinicalgenome.org/kb/genes/HGNC:8931","glycogen storage disease IXc","MONDO:0013091","https://search.clinicalgenome.org/kb/conditions/MONDO:0013091","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8931","Dosage Working Group","definitive evidence (08/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c598d3b3-2356-4404-ae5c-fa998c192bc4-2024-08-16T160000.000Z","General Inborn Errors of Metabolism","","",""
"PHOX2B","HGNC:9143","https://search.clinicalgenome.org/kb/genes/HGNC:9143","central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease","MONDO:0800026","https://search.clinicalgenome.org/kb/conditions/MONDO:0800026","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/10/2024)","0 - No Evidence for Triplosensitivity (07/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9143","Dosage Working Group","definitive evidence (12/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ed68efa-cafc-4e28-ab56-ab9b65666c15-2022-12-30T180000.000Z","Hereditary Cancer","","",""
"PHOX2B","HGNC:9143","https://search.clinicalgenome.org/kb/genes/HGNC:9143","Haddad syndrome","MONDO:0020493","https://search.clinicalgenome.org/kb/conditions/MONDO:0020493","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/10/2024)","0 - No Evidence for Triplosensitivity (07/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9143","Dosage Working Group","definitive evidence (06/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07133a39-00fb-43c4-a7e2-a465c3c0c4ca-2021-06-15T152906.892Z","Hereditary Cancer","","",""
"PHYH","HGNC:8940","https://search.clinicalgenome.org/kb/genes/HGNC:8940","phytanoyl-CoA hydroxylase deficiency","MONDO:0100258","https://search.clinicalgenome.org/kb/conditions/MONDO:0100258","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8940","Dosage Working Group","definitive evidence (02/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c50f8ab-65d8-493d-a800-52af1fa13339-2020-02-07T050000.000Z","Peroxisomal Disorders","","",""
"PHYH","HGNC:8940","https://search.clinicalgenome.org/kb/genes/HGNC:8940","adult Refsum disease","MONDO:0009958","https://search.clinicalgenome.org/kb/conditions/MONDO:0009958","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8940","Dosage Working Group","","","","Moderate Actionability (11/02/2020) | Moderate Actionability (11/02/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1015 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1015"," | "
"PHYKPL","HGNC:28249","https://search.clinicalgenome.org/kb/genes/HGNC:28249","phosphohydroxylysinuria","MONDO:0014008","https://search.clinicalgenome.org/kb/conditions/MONDO:0014008","Autosomal recessive inheritance","","","","","limited evidence (11/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82ba1358-e58c-4187-bbe7-0f1bf41267d0-2023-11-17T170000.000Z","Aminoacidopathy","","",""
"PIBF1","HGNC:23352","https://search.clinicalgenome.org/kb/genes/HGNC:23352","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","moderate evidence (09/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf72e5f0-a64d-4fb9-9a9b-07fef481bf56-2023-09-27T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"PIDD1","HGNC:16491","https://search.clinicalgenome.org/kb/genes/HGNC:16491","intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly","MONDO:0030785","https://search.clinicalgenome.org/kb/conditions/MONDO:0030785","Autosomal recessive inheritance","","","","","definitive evidence (06/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_021d5aa5-6447-4b49-a748-219c4dd356f4-2024-06-04T160000.000Z","Intellectual Disability and Autism","","",""
"PIEZO1","HGNC:28993","https://search.clinicalgenome.org/kb/genes/HGNC:28993","dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema","MONDO:0008689","https://search.clinicalgenome.org/kb/conditions/MONDO:0008689","Autosomal dominant inheritance","","","","","strong evidence (07/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a86cb1d-4eed-4c10-971f-4a9578cb12b1-2023-07-02T040000.000Z","Prenatal","","",""
"PIEZO1","HGNC:28993","https://search.clinicalgenome.org/kb/genes/HGNC:28993","obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis","MONDO:0035474","https://search.clinicalgenome.org/kb/conditions/MONDO:0035474","Autosomal recessive inheritance","","","","","definitive evidence (07/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d37d7a52-269b-4a45-b28e-c6cbdfd7d94e-2023-07-03T160000.000Z","Prenatal","","",""
"PIGA","HGNC:8957","https://search.clinicalgenome.org/kb/genes/HGNC:8957","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (04/10/2025)","0 - No Evidence for Triplosensitivity (04/10/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8957","Dosage Working Group","definitive evidence (04/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1fbb591b-eb34-4b73-a741-2f101886c896-2024-04-16T170000.000Z","Epilepsy","","",""
"PIGA","HGNC:8957","https://search.clinicalgenome.org/kb/genes/HGNC:8957","infertility disorder","MONDO:0005047","https://search.clinicalgenome.org/kb/conditions/MONDO:0005047","N/A","1 - Little Evidence for Haploinsufficiency (04/10/2025)","0 - No Evidence for Triplosensitivity (04/10/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8957","Dosage Working Group","","","","","",""
"PIGB","HGNC:8959","https://search.clinicalgenome.org/kb/genes/HGNC:8959","developmental and epileptic encephalopathy, 80","MONDO:0032822","https://search.clinicalgenome.org/kb/conditions/MONDO:0032822","Autosomal recessive inheritance","","","","","moderate evidence (12/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a524d8c-97d7-4d4e-8338-e993c72c2e9c-2024-12-13T170000.000Z","Congenital Disorders of Glycosylation","","",""
"PIGC","HGNC:8960","https://search.clinicalgenome.org/kb/genes/HGNC:8960","glycosylphosphatidylinositol biosynthesis defect 16","MONDO:0040500","https://search.clinicalgenome.org/kb/conditions/MONDO:0040500","Autosomal recessive inheritance","","","","","limited evidence (01/02/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f6b91a8-0806-4cb2-88a3-57b5bb4a9b88-2025-01-02T170000.000Z","Congenital Disorders of Glycosylation","","",""
"PIGF","HGNC:8962","https://search.clinicalgenome.org/kb/genes/HGNC:8962","onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome","MONDO:0859161","https://search.clinicalgenome.org/kb/conditions/MONDO:0859161","Autosomal recessive inheritance","","","","","limited evidence (11/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fee2ba7f-6e59-46a9-97b6-0d13c7513292-2024-11-07T170000.000Z","Congenital Disorders of Glycosylation","","",""
"PIGH","HGNC:8964","https://search.clinicalgenome.org/kb/genes/HGNC:8964","glycosylphosphatidylinositol biosynthesis defect 17","MONDO:0060724","https://search.clinicalgenome.org/kb/conditions/MONDO:0060724","Autosomal recessive inheritance","","","","","limited evidence (10/02/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef2829dc-c0a5-43f7-a633-36e828cbd4ae-2025-10-02T160000.000Z","Congenital Disorders of Glycosylation","","",""
"PIGL","HGNC:8966","https://search.clinicalgenome.org/kb/genes/HGNC:8966","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal recessive inheritance","","","","","definitive evidence (12/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c33f1e7-bad5-4f88-93e8-02d21e7e1850-2022-12-07T190000.000Z","Intellectual Disability and Autism","","",""
"PIGM","HGNC:18858","https://search.clinicalgenome.org/kb/genes/HGNC:18858","hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency","MONDO:0012465","https://search.clinicalgenome.org/kb/conditions/MONDO:0012465","Autosomal recessive inheritance","","","","","limited evidence (02/06/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2f014f3-0570-46b6-b03e-89fac0387882-2025-02-06T170000.000Z","Congenital Disorders of Glycosylation","","",""
"PIGN","HGNC:8967","https://search.clinicalgenome.org/kb/genes/HGNC:8967","multiple congenital anomalies-hypotonia-seizures syndrome 1","MONDO:0013563","https://search.clinicalgenome.org/kb/conditions/MONDO:0013563","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8967","Dosage Working Group","definitive evidence (04/28/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_252393aa-6a56-483e-a353-6dbe2cd99e84-2022-04-28T060000.000Z","Intellectual Disability and Autism","","",""
"PIGO","HGNC:23215","https://search.clinicalgenome.org/kb/genes/HGNC:23215","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23215","Dosage Working Group","definitive evidence (10/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_830b11ca-6ec1-4aa9-bb44-379f03f738c7-2021-10-21T004641.341Z","Epilepsy","","",""
"PIGO","HGNC:23215","https://search.clinicalgenome.org/kb/genes/HGNC:23215","hyperphosphatasia with intellectual disability syndrome 2","MONDO:0013882","https://search.clinicalgenome.org/kb/conditions/MONDO:0013882","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23215","Dosage Working Group","","","","","",""
"PIGP","HGNC:3046","https://search.clinicalgenome.org/kb/genes/HGNC:3046","developmental and epileptic encephalopathy, 55","MONDO:0033364","https://search.clinicalgenome.org/kb/conditions/MONDO:0033364","Autosomal recessive inheritance","","","","","moderate evidence (12/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1ec33e8-bb2c-4d75-9301-17fb602d2545-2024-12-05T170000.000Z","Congenital Disorders of Glycosylation","","",""
"PIGQ","HGNC:14135","https://search.clinicalgenome.org/kb/genes/HGNC:14135","developmental and epileptic encephalopathy, 77","MONDO:0032808","https://search.clinicalgenome.org/kb/conditions/MONDO:0032808","Autosomal recessive inheritance","","","","","definitive evidence (03/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_817e1fff-3af1-4be2-b834-0be47903c9a1-2025-03-28T160000.000Z","Congenital Disorders of Glycosylation","","",""
"PIGS","HGNC:14937","https://search.clinicalgenome.org/kb/genes/HGNC:14937","glycosylphosphatidylinositol biosynthesis defect 18","MONDO:0029140","https://search.clinicalgenome.org/kb/conditions/MONDO:0029140","Autosomal recessive inheritance","","","","","definitive evidence (06/06/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38cb0b29-5a46-44c4-a92b-67d69e3347c4-2025-06-06T160000.000Z","Congenital Disorders of Glycosylation","","",""
"PIGT","HGNC:14938","https://search.clinicalgenome.org/kb/genes/HGNC:14938","multiple congenital anomalies-hypotonia-seizures syndrome 3","MONDO:0014165","https://search.clinicalgenome.org/kb/conditions/MONDO:0014165","Autosomal recessive inheritance","","","","","definitive evidence (08/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_07ba32cf-e0ae-41ca-b49f-3559e43ad26d-2025-08-07T170000.000Z","Congenital Disorders of Glycosylation","","",""
"PIGU","HGNC:15791","https://search.clinicalgenome.org/kb/genes/HGNC:15791","glycosylphosphatidylinositol biosynthesis defect 21","MONDO:0032824","https://search.clinicalgenome.org/kb/conditions/MONDO:0032824","Autosomal recessive inheritance","","","","","limited evidence (06/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06c208ae-ed82-4b3e-88b6-a9a144ef7775-2025-06-30T160000.000Z","Syndromic Disorders","","",""
"PIGV","HGNC:26031","https://search.clinicalgenome.org/kb/genes/HGNC:26031","hyperphosphatasia with intellectual disability syndrome 1","MONDO:0009398","https://search.clinicalgenome.org/kb/conditions/MONDO:0009398","Autosomal recessive inheritance","","","","","moderate evidence (06/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ba42b0b-dace-44ef-acf4-59350de2199e-2025-06-18T170000.000Z","Congenital Disorders of Glycosylation","","",""
"PIGW","HGNC:23213","https://search.clinicalgenome.org/kb/genes/HGNC:23213","hyperphosphatasia with intellectual disability syndrome 5","MONDO:0014457","https://search.clinicalgenome.org/kb/conditions/MONDO:0014457","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23213","Dosage Working Group","limited evidence (02/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7e3ea0a-9e1b-4e4b-8c23-a9062a5535b7-2025-02-21T170000.000Z","Congenital Disorders of Glycosylation","","",""
"PIK3CA","HGNC:8975","https://search.clinicalgenome.org/kb/genes/HGNC:8975","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/13/2025)","0 - No Evidence for Triplosensitivity (03/13/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8975","Dosage Working Group","no known disease relationship (02/08/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8694","Breast/Ovarian Cancer","","",""
"PIK3CA","HGNC:8975","https://search.clinicalgenome.org/kb/genes/HGNC:8975","overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes","MONDO:0100283","https://search.clinicalgenome.org/kb/conditions/MONDO:0100283","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/13/2025)","0 - No Evidence for Triplosensitivity (03/13/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8975","Dosage Working Group","definitive evidence (07/29/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c670e6ce-97b6-4383-bea6-5c216ab2a4a0-2021-07-29T213157.366Z","Brain Malformations","","",""
"PIK3CA","HGNC:8975","https://search.clinicalgenome.org/kb/genes/HGNC:8975","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/13/2025)","0 - No Evidence for Triplosensitivity (03/13/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8975","Dosage Working Group","refuting evidence (12/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ce3540a-5a7f-4f47-aeb3-520767016539-2023-12-21T180000.000Z","Hereditary Cancer","","",""
"PIK3CD","HGNC:8977","https://search.clinicalgenome.org/kb/genes/HGNC:8977","immunodeficiency 14","MONDO:0014222","https://search.clinicalgenome.org/kb/conditions/MONDO:0014222","Autosomal dominant inheritance","","","","","definitive evidence (04/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c37954fd-7d7c-4ca9-9cd0-7681c1edf8d3-2022-04-19T150547.546Z","Antibody Deficiencies GCEP","","",""
"PIK3CD","HGNC:8977","https://search.clinicalgenome.org/kb/genes/HGNC:8977","immunodeficiency 14b, autosomal recessive","MONDO:0023655","https://search.clinicalgenome.org/kb/conditions/MONDO:0023655","Autosomal recessive inheritance","","","","","definitive evidence (04/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00e2cc94-311b-44d8-9c41-e41c12ebd8f2-2022-04-19T192558.184Z","Antibody Deficiencies GCEP","","",""
"PIK3CG","HGNC:8978","https://search.clinicalgenome.org/kb/genes/HGNC:8978","immunodeficiency 97 with autoinflammation","MONDO:0030717","https://search.clinicalgenome.org/kb/conditions/MONDO:0030717","Autosomal recessive inheritance","","","","","moderate evidence (07/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c042f849-508e-4125-be10-cfa6750408ef-2023-07-18T160000.000Z","Antibody Deficiencies GCEP","","",""
"PIK3R1","HGNC:8979","https://search.clinicalgenome.org/kb/genes/HGNC:8979","agammaglobulinemia 7, autosomal recessive","MONDO:0014083","https://search.clinicalgenome.org/kb/conditions/MONDO:0014083","Autosomal recessive inheritance","","","","","limited evidence (05/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e019aaad-09a8-44c4-9fc0-12a1d53e79db-2021-05-20T153438.351Z","Antibody Deficiencies GCEP","","",""
"PIK3R1","HGNC:8979","https://search.clinicalgenome.org/kb/genes/HGNC:8979","PIK3R1-related immunodeficiency and SHORT syndrome","MONDO:1060136","https://search.clinicalgenome.org/kb/conditions/MONDO:1060136","Autosomal dominant inheritance","","","","","definitive evidence (03/11/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40c5f722-d25e-46b1-8a52-c407d1c64e63-2025-03-11T040000.000Z","Antibody Deficiencies GCEP","","",""
"PIK3R1","HGNC:8979","https://search.clinicalgenome.org/kb/genes/HGNC:8979","SHORT syndrome","MONDO:0010026","https://search.clinicalgenome.org/kb/conditions/MONDO:0010026","N/A","","","","","","","","Moderate Actionability (10/12/2020) | Moderate Actionability (10/12/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1020 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1020"," | "
"PIK3R2","HGNC:8980","https://search.clinicalgenome.org/kb/genes/HGNC:8980","overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes","MONDO:0100283","https://search.clinicalgenome.org/kb/conditions/MONDO:0100283","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (06/25/2015)","0 - No Evidence for Triplosensitivity (06/25/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8980","Dosage Working Group","definitive evidence (07/29/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc9a451e-0e75-47d2-a090-a2409732c465-2021-07-29T213616.452Z","Brain Malformations","","",""
"PIK3R5","HGNC:30035","https://search.clinicalgenome.org/kb/genes/HGNC:30035","ataxia with oculomotor apraxia type 3","MONDO:0014084","https://search.clinicalgenome.org/kb/conditions/MONDO:0014084","Autosomal recessive inheritance","","","","","disputing (04/09/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9876210c-07d1-48c9-997f-da98db372e14-2025-04-09T160000.000Z","Cerebellar Ataxia","","",""
"PINK1","HGNC:14581","https://search.clinicalgenome.org/kb/genes/HGNC:14581","Parkinson disease","MONDO:0005180","https://search.clinicalgenome.org/kb/conditions/MONDO:0005180","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14581","Dosage Working Group","definitive evidence (01/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1999e6c4-eb15-438a-a4ea-98989112dcbb-2023-01-18T190000.000Z","Parkinson's Disease","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"PINK1","HGNC:14581","https://search.clinicalgenome.org/kb/genes/HGNC:14581","young-onset Parkinson disease","MONDO:0017279","https://search.clinicalgenome.org/kb/conditions/MONDO:0017279","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14581","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"PINK1","HGNC:14581","https://search.clinicalgenome.org/kb/genes/HGNC:14581","autosomal recessive early-onset Parkinson disease 6","MONDO:0011613","https://search.clinicalgenome.org/kb/conditions/MONDO:0011613","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14581","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"PIP5K1C","HGNC:8996","https://search.clinicalgenome.org/kb/genes/HGNC:8996","lethal congenital contracture syndrome 3","MONDO:0012656","https://search.clinicalgenome.org/kb/conditions/MONDO:0012656","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8996","Dosage Working Group","","","","","",""
"PISD","HGNC:8999","https://search.clinicalgenome.org/kb/genes/HGNC:8999","Liberfarb syndrome","MONDO:0030045","https://search.clinicalgenome.org/kb/conditions/MONDO:0030045","Autosomal recessive inheritance","","","","","moderate evidence (10/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c79d65c7-3c7b-42fa-a84b-894bc865316d-2024-10-02T160000.000Z","Syndromic Disorders","","",""
"PITX2","HGNC:9005","https://search.clinicalgenome.org/kb/genes/HGNC:9005","Axenfeld-Rieger syndrome","MONDO:0019187","https://search.clinicalgenome.org/kb/conditions/MONDO:0019187","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/24/2022)","0 - No Evidence for Triplosensitivity (10/24/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9005","Dosage Working Group","","","","","",""
"PJVK","HGNC:29502","https://search.clinicalgenome.org/kb/genes/HGNC:29502","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","definitive evidence (12/19/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3e304c3-33fd-41ec-81f9-1c0725a5549f-2017-12-19T050000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"PJVK","HGNC:29502","https://search.clinicalgenome.org/kb/genes/HGNC:29502","autosomal recessive nonsyndromic hearing loss 59","MONDO:0012445","https://search.clinicalgenome.org/kb/conditions/MONDO:0012445","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"PJVK","HGNC:29502","https://search.clinicalgenome.org/kb/genes/HGNC:29502","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"PJVK","HGNC:29502","https://search.clinicalgenome.org/kb/genes/HGNC:29502","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"PKD1","HGNC:9008","https://search.clinicalgenome.org/kb/genes/HGNC:9008","autosomal dominant polycystic kidney disease","MONDO:0004691","https://search.clinicalgenome.org/kb/conditions/MONDO:0004691","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/10/2020)","0 - No Evidence for Triplosensitivity (06/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9008","Dosage Working Group","definitive evidence (02/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09d61dec-314b-4c5f-af2e-f22fc5992c12-2021-02-26T151356.823Z","Kidney Cystic and Ciliopathy Disorders","Moderate Actionability (11/05/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC037",""
"PKD1","HGNC:9008","https://search.clinicalgenome.org/kb/genes/HGNC:9008","autosomal recessive polycystic kidney disease","MONDO:0009889","https://search.clinicalgenome.org/kb/conditions/MONDO:0009889","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/10/2020)","0 - No Evidence for Triplosensitivity (06/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9008","Dosage Working Group","definitive evidence (01/11/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d38c5bda-7182-403f-a99b-4f8492afb24f-2023-01-11T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"PKD1","HGNC:9008","https://search.clinicalgenome.org/kb/genes/HGNC:9008","polycystic kidney disease 1","MONDO:0008263","https://search.clinicalgenome.org/kb/conditions/MONDO:0008263","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/10/2020)","0 - No Evidence for Triplosensitivity (06/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9008","Dosage Working Group","","","","Moderate Actionability (11/05/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC037",""
"PKD2","HGNC:9009","https://search.clinicalgenome.org/kb/genes/HGNC:9009","autosomal dominant polycystic kidney disease","MONDO:0004691","https://search.clinicalgenome.org/kb/conditions/MONDO:0004691","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9009","Dosage Working Group","definitive evidence (12/08/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae0ae123-be04-4ba2-b685-594ca47a3467-2023-12-08T170000.000Z","Kidney Cystic and Ciliopathy Disorders","Moderate Actionability (11/05/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC037",""
"PKD2","HGNC:9009","https://search.clinicalgenome.org/kb/genes/HGNC:9009","polycystic kidney disease 2","MONDO:0013131","https://search.clinicalgenome.org/kb/conditions/MONDO:0013131","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9009","Dosage Working Group","","","","Moderate Actionability (11/05/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC037",""
"PKHD1","HGNC:9016","https://search.clinicalgenome.org/kb/genes/HGNC:9016","autosomal recessive polycystic kidney disease","MONDO:0009889","https://search.clinicalgenome.org/kb/conditions/MONDO:0009889","Autosomal recessive inheritance","","","","","definitive evidence (11/11/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06fb7576-e842-4e52-9284-0762bb7a05c6-2020-11-11T050000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"PKLR","HGNC:9020","https://search.clinicalgenome.org/kb/genes/HGNC:9020","pyruvate kinase deficiency of red cells","MONDO:0009950","https://search.clinicalgenome.org/kb/conditions/MONDO:0009950","Autosomal recessive inheritance","","","","","definitive evidence (02/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35a6386b-dc76-4382-b3a9-2e67c1407bc2-2024-02-21T170000.000Z","Prenatal","","",""
"PKP2","HGNC:9024","https://search.clinicalgenome.org/kb/genes/HGNC:9024","Brugada syndrome 1","MONDO:0011001","https://search.clinicalgenome.org/kb/conditions/MONDO:0011001","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9024","Dosage Working Group","disputing (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10156","Brugada Syndrome","","",""
"PKP2","HGNC:9024","https://search.clinicalgenome.org/kb/genes/HGNC:9024","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9024","Dosage Working Group","definitive evidence (03/08/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f97b6cd-5225-4076-b67a-2f609908e6fe-2018-03-08T170000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"PKP2","HGNC:9024","https://search.clinicalgenome.org/kb/genes/HGNC:9024","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9024","Dosage Working Group","disputing (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a8e26ad-c4ce-48d7-acab-1198d3b12ce5-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"PKP2","HGNC:9024","https://search.clinicalgenome.org/kb/genes/HGNC:9024","catecholaminergic polymorphic ventricular tachycardia","MONDO:0017990","https://search.clinicalgenome.org/kb/conditions/MONDO:0017990","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9024","Dosage Working Group","disputing (01/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1231ec3b-3570-48dd-bea4-f7cd7fc54811-2021-01-20T170000.000Z","Catecholaminergic Polymorphic Ventricular Tachycardia","","",""
"PKP2","HGNC:9024","https://search.clinicalgenome.org/kb/genes/HGNC:9024","familial isolated arrhythmogenic right ventricular dysplasia","MONDO:0016342","https://search.clinicalgenome.org/kb/conditions/MONDO:0016342","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9024","Dosage Working Group","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"PKP2","HGNC:9024","https://search.clinicalgenome.org/kb/genes/HGNC:9024","arrhythmogenic right ventricular dysplasia 9","MONDO:0012180","https://search.clinicalgenome.org/kb/conditions/MONDO:0012180","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9024","Dosage Working Group","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"PLA2G4A","HGNC:9035","https://search.clinicalgenome.org/kb/genes/HGNC:9035","cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder","MONDO:0018794","https://search.clinicalgenome.org/kb/conditions/MONDO:0018794","Autosomal recessive inheritance","","","","","moderate evidence (11/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff7f6f85-cca7-4eb2-9957-9023c94402f0-2024-11-04T170000.000Z","Hemostasis Thrombosis","","",""
"PLA2G6","HGNC:9039","https://search.clinicalgenome.org/kb/genes/HGNC:9039","PLA2G6-associated neurodegeneration","MONDO:0017998","https://search.clinicalgenome.org/kb/conditions/MONDO:0017998","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9039","Dosage Working Group","definitive evidence (03/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d183700f-e6cc-482f-a3ed-f18f8154f092-2024-03-21T160000.000Z","Lysosomal Diseases GCEP","","",""
"PLA2G6","HGNC:9039","https://search.clinicalgenome.org/kb/genes/HGNC:9039","neurodegeneration with brain iron accumulation","MONDO:0018307","https://search.clinicalgenome.org/kb/conditions/MONDO:0018307","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9039","Dosage Working Group","","","","","",""
"PLAT","HGNC:9051","https://search.clinicalgenome.org/kb/genes/HGNC:9051","thrombophilia, familial, due to decreased release of tissue plasminogen activator","MONDO:0012872","https://search.clinicalgenome.org/kb/conditions/MONDO:0012872","Autosomal dominant inheritance","","","","","disputing (06/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c280374c-5c63-46e4-b1a0-26cdd12e357d-2023-06-07T160000.000Z","Hemostasis Thrombosis","","",""
"PLAU","HGNC:9052","https://search.clinicalgenome.org/kb/genes/HGNC:9052","Quebec platelet disorder","MONDO:0011136","https://search.clinicalgenome.org/kb/conditions/MONDO:0011136","Autosomal dominant inheritance","","","","","moderate evidence (02/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ffd0133-1004-4a53-b38d-940c257e56c1-2024-02-05T170000.000Z","Hemostasis Thrombosis","","",""
"PLCB1","HGNC:15917","https://search.clinicalgenome.org/kb/genes/HGNC:15917","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15917","Dosage Working Group","definitive evidence (09/18/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7887c3b-332b-4586-93cf-4098796ab66f-2020-09-18T040000.000Z","Epilepsy","","",""
"PLCB1","HGNC:15917","https://search.clinicalgenome.org/kb/genes/HGNC:15917","developmental and epileptic encephalopathy, 12","MONDO:0013389","https://search.clinicalgenome.org/kb/conditions/MONDO:0013389","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15917","Dosage Working Group","","","","","",""
"PLCB4","HGNC:9059","https://search.clinicalgenome.org/kb/genes/HGNC:9059","auriculocondylar syndrome 2","MONDO:0013845","https://search.clinicalgenome.org/kb/conditions/MONDO:0013845","Autosomal recessive inheritance | Autosomal dominant inheritance","","","","","definitive evidence (06/30/2025) | definitive evidence (06/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ddf3bbb2-762c-4a36-90d1-b53ea6585070-2025-06-30T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b419754b-72d5-4565-8213-b40051e3e60e-2023-06-07T160000.000Z","Syndromic Disorders | Syndromic Disorders","","",""
"PLCE1","HGNC:17175","https://search.clinicalgenome.org/kb/genes/HGNC:17175","nephrotic syndrome, type 3","MONDO:0012546","https://search.clinicalgenome.org/kb/conditions/MONDO:0012546","Autosomal recessive inheritance","","","","","definitive evidence (04/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf5e85df-45a3-48dc-8b8d-27228d620412-2022-04-10T143000.000Z","Glomerulopathy","","",""
"PLD1","HGNC:9067","https://search.clinicalgenome.org/kb/genes/HGNC:9067","PLD1-related congenital heart disease","MONDO:1010144","https://search.clinicalgenome.org/kb/conditions/MONDO:1010144","Autosomal recessive inheritance","","","","","definitive evidence (12/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d37e1c81-cb59-45db-9481-338149fa5064-2024-12-02T170000.000Z","Congenital Heart Disease","","",""
"PLEC","HGNC:9069","https://search.clinicalgenome.org/kb/genes/HGNC:9069","PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder","MONDO:1060109","https://search.clinicalgenome.org/kb/conditions/MONDO:1060109","Autosomal recessive inheritance","","","","","definitive evidence (04/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67674d96-8b18-4139-8b88-317f63485a14-2025-04-08T160000.000Z","Muscular Dystrophies and Myopathies","","",""
"PLEKHG5","HGNC:29105","https://search.clinicalgenome.org/kb/genes/HGNC:29105","neuromuscular disease","MONDO:0019056","https://search.clinicalgenome.org/kb/conditions/MONDO:0019056","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29105","Dosage Working Group","definitive evidence (09/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f2f5a6d-3b4f-4f4c-b560-50944b4ab34f-2023-09-06T160000.000Z","Charcot-Marie-Tooth","","",""
"PLEKHG5","HGNC:29105","https://search.clinicalgenome.org/kb/genes/HGNC:29105","Charcot-Marie-Tooth disease recessive intermediate C","MONDO:0014154","https://search.clinicalgenome.org/kb/conditions/MONDO:0014154","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29105","Dosage Working Group","","","","","",""
"PLEKHM1","HGNC:29017","https://search.clinicalgenome.org/kb/genes/HGNC:29017","osteopetrosis, autosomal dominant 3","MONDO:0020848","https://search.clinicalgenome.org/kb/conditions/MONDO:0020848","Autosomal dominant inheritance","","","","","limited evidence (03/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_831aa283-9525-422c-8a73-14217d9222ad-2024-03-06T170000.000Z","Skeletal Disorders","","",""
"PLEKHM1","HGNC:29017","https://search.clinicalgenome.org/kb/genes/HGNC:29017","autosomal recessive osteopetrosis 6","MONDO:0012679","https://search.clinicalgenome.org/kb/conditions/MONDO:0012679","Autosomal recessive inheritance","","","","","moderate evidence (03/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1d3ccf3-6b4a-4182-ae30-0c68c907715a-2024-03-06T170000.000Z","Skeletal Disorders","","",""
"PLEKHM2","HGNC:29131","https://search.clinicalgenome.org/kb/genes/HGNC:29131","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","moderate evidence (11/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44c534b9-16d1-435b-9eca-fb7d1de6ea26-2024-11-15T170000.000Z","Dilated Cardiomyopathy","","",""
"PLG","HGNC:9071","https://search.clinicalgenome.org/kb/genes/HGNC:9071","hypoplasminogenemia","MONDO:0009009","https://search.clinicalgenome.org/kb/conditions/MONDO:0009009","Autosomal recessive inheritance","","","","","definitive evidence (10/23/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2c9320e7-9f02-4b54-beba-0ca781a442eb-2019-10-23T160000.000Z","Hemostasis Thrombosis","","",""
"PLIN1","HGNC:9076","https://search.clinicalgenome.org/kb/genes/HGNC:9076","PLIN1-related familial partial lipodystrophy","MONDO:0013478","https://search.clinicalgenome.org/kb/conditions/MONDO:0013478","Autosomal dominant inheritance","","","","","definitive evidence (09/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dcba327c-dc89-4e78-ae7b-84b23db5429e-2025-09-10T160000.000Z","Monogenic Diabetes","","",""
"PLN","HGNC:9080","https://search.clinicalgenome.org/kb/genes/HGNC:9080","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (08/29/2025)","0 - No Evidence for Triplosensitivity (08/29/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9080","Dosage Working Group","moderate evidence (12/17/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13027de9-c84a-4968-936b-6356265193a6-2020-12-17T213224.631Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"PLN","HGNC:9080","https://search.clinicalgenome.org/kb/genes/HGNC:9080","intrinsic cardiomyopathy","MONDO:0000591","https://search.clinicalgenome.org/kb/conditions/MONDO:0000591","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (08/29/2025)","0 - No Evidence for Triplosensitivity (08/29/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9080","Dosage Working Group","definitive evidence (02/12/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f49f65fb-a2df-4e86-9a89-da2325b207c8-2021-02-12T170000.000Z","Hypertrophic Cardiomyopathy","","",""
"PLOD1","HGNC:9081","https://search.clinicalgenome.org/kb/genes/HGNC:9081","Ehlers-Danlos syndrome, kyphoscoliotic type 1","MONDO:0016002","https://search.clinicalgenome.org/kb/conditions/MONDO:0016002","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9081","Dosage Working Group","","","","","",""
"PLOD2","HGNC:9082","https://search.clinicalgenome.org/kb/genes/HGNC:9082","Bruck syndrome 2","MONDO:0012217","https://search.clinicalgenome.org/kb/conditions/MONDO:0012217","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9082","Dosage Working Group","","","","","",""
"PLOD3","HGNC:9083","https://search.clinicalgenome.org/kb/genes/HGNC:9083","bone fragility with contractures, arterial rupture, and deafness","MONDO:0012892","https://search.clinicalgenome.org/kb/conditions/MONDO:0012892","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9083","Dosage Working Group","","","","","",""
"PLP1","HGNC:9086","https://search.clinicalgenome.org/kb/genes/HGNC:9086","Pelizeaus-Merzbacher spectrum disorder","MONDO:0010714","https://search.clinicalgenome.org/kb/conditions/MONDO:0010714","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/12/2021)","3 - Sufficient Evidence for Triplosensitivity (04/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9086","Dosage Working Group","definitive evidence (03/07/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1a44c5f-744e-4d02-a08f-e7c687531b21-2018-03-07T110000.000Z","Intellectual Disability and Autism","","",""
"PMM2","HGNC:9115","https://search.clinicalgenome.org/kb/genes/HGNC:9115","PMM2-congenital disorder of glycosylation","MONDO:0008907","https://search.clinicalgenome.org/kb/conditions/MONDO:0008907","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9115","Dosage Working Group","definitive evidence (12/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a70becbb-336f-4a30-966b-8db1c7832d87-2023-12-12T050000.000Z","Congenital Disorders of Glycosylation","","",""
"PMM2","HGNC:9115","https://search.clinicalgenome.org/kb/genes/HGNC:9115","hyperinsulinemic hypoglycemia with polycystic kidney disease","MONDO:1030000","https://search.clinicalgenome.org/kb/conditions/MONDO:1030000","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9115","Dosage Working Group","moderate evidence (02/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2325bc92-b994-4c5a-b2cb-e2b757d8acbd-2024-02-28T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"PMP2","HGNC:9117","https://search.clinicalgenome.org/kb/genes/HGNC:9117","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Autosomal dominant inheritance","","","","","moderate evidence (05/29/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa4c5730-f807-45d7-afe7-573a3960916f-2025-05-29T160000.000Z","Charcot-Marie-Tooth","","",""
"PMP22","HGNC:9118","https://search.clinicalgenome.org/kb/genes/HGNC:9118","Charcot-Marie-Tooth disease type 1A","MONDO:0007309","https://search.clinicalgenome.org/kb/conditions/MONDO:0007309","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/12/2012)","0 - No Evidence for Triplosensitivity (07/12/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9118","Dosage Working Group","definitive evidence (10/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_169edbc0-b942-43f1-885d-8d47ccdb6d90-2022-10-10T160000.000Z","Charcot-Marie-Tooth","Limited Actionability (03/19/2024) | Moderate Actionability (03/19/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC129 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC129"," | "
"PMP22","HGNC:9118","https://search.clinicalgenome.org/kb/genes/HGNC:9118","hereditary neuropathy with liability to pressure palsies","MONDO:0008087","https://search.clinicalgenome.org/kb/conditions/MONDO:0008087","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/12/2012)","0 - No Evidence for Triplosensitivity (07/12/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9118","Dosage Working Group","definitive evidence (07/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7502a7e-2a4e-4b85-8f7c-8d76fe94f294-2024-07-08T160000.000Z","Charcot-Marie-Tooth","Limited Actionability (07/08/2024) | Limited Actionability (07/15/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC063 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC063"," | "
"PMP22","HGNC:9118","https://search.clinicalgenome.org/kb/genes/HGNC:9118","Charcot-Marie-Tooth disease type 1E","MONDO:0007311","https://search.clinicalgenome.org/kb/conditions/MONDO:0007311","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/12/2012)","0 - No Evidence for Triplosensitivity (07/12/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9118","Dosage Working Group","","","","Limited Actionability (03/19/2024) | Moderate Actionability (03/19/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC129 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC129"," | "
"PMP22","HGNC:9118","https://search.clinicalgenome.org/kb/genes/HGNC:9118","Charcot-Marie-Tooth disease type 1","MONDO:0019011","https://search.clinicalgenome.org/kb/conditions/MONDO:0019011","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/12/2012)","0 - No Evidence for Triplosensitivity (07/12/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9118","Dosage Working Group","","","","Limited Actionability (03/19/2024) | Moderate Actionability (03/19/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC129 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC129"," | "
"PMPCA","HGNC:18667","https://search.clinicalgenome.org/kb/genes/HGNC:18667","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (12/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6020acad-80ce-430c-adfe-37ed65b0803d-2023-12-18T170000.000Z","Mitochondrial Diseases","","",""
"PMS1","HGNC:9121","https://search.clinicalgenome.org/kb/genes/HGNC:9121","Lynch syndrome","MONDO:0005835","https://search.clinicalgenome.org/kb/conditions/MONDO:0005835","Autosomal dominant inheritance","","","","","refuting evidence (12/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7aa5e58f-5778-4b62-9279-a3da77ca79c0-2023-12-20T180000.000Z","Hereditary Cancer","","",""
"PMS2","HGNC:9122","https://search.clinicalgenome.org/kb/genes/HGNC:9122","mismatch repair cancer syndrome 1","MONDO:0010159","https://search.clinicalgenome.org/kb/conditions/MONDO:0010159","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9122","Dosage Working Group","definitive evidence (12/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38bc9d1d-a436-4f21-9952-bd5e7790a797-2022-12-30T180000.000Z","Hereditary Cancer","","",""
"PMS2","HGNC:9122","https://search.clinicalgenome.org/kb/genes/HGNC:9122","Lynch syndrome","MONDO:0005835","https://search.clinicalgenome.org/kb/conditions/MONDO:0005835","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9122","Dosage Working Group","definitive evidence (12/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_213ba61e-a4a5-4e4f-945d-f0fef691a9ba-2022-12-30T180000.000Z","Hereditary Cancer","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021) | Strong Actionability (02/11/2015)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC069 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC069"," | "
"PMS2","HGNC:9122","https://search.clinicalgenome.org/kb/genes/HGNC:9122","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9122","Dosage Working Group","disputing (12/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_308d8362-7bd9-46a7-b2fa-ab8f671a44c9-2023-12-21T180000.000Z","Hereditary Cancer","","",""
"PMS2","HGNC:9122","https://search.clinicalgenome.org/kb/genes/HGNC:9122","Lynch syndrome 4","MONDO:0013699","https://search.clinicalgenome.org/kb/conditions/MONDO:0013699","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9122","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/15/2021) | Strong Actionability (02/11/2015)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC069 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC069"," | "
"PMS2","HGNC:9122","https://search.clinicalgenome.org/kb/genes/HGNC:9122","mismatch repair cancer syndrome 4","MONDO:0030843","https://search.clinicalgenome.org/kb/conditions/MONDO:0030843","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9122","Dosage Working Group","","","","Moderate Actionability (08/24/2022) | Strong Actionability (08/24/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1055 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1055"," | "
"PMS2","HGNC:9122","https://search.clinicalgenome.org/kb/genes/HGNC:9122","mismatch repair cancer syndrome","MONDO:0031219","https://search.clinicalgenome.org/kb/conditions/MONDO:0031219","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9122","Dosage Working Group","","","","Moderate Actionability (08/24/2022) | Strong Actionability (08/24/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1055 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1055"," | "
"PMS2","HGNC:9122","https://search.clinicalgenome.org/kb/genes/HGNC:9122","","614337","https://search.clinicalgenome.org/kb/conditions/614337","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9122","Dosage Working Group","","","","","",""
"PNKP","HGNC:9154","https://search.clinicalgenome.org/kb/genes/HGNC:9154","microcephaly, seizures, and developmental delay","MONDO:0013254","https://search.clinicalgenome.org/kb/conditions/MONDO:0013254","Autosomal recessive inheritance","","","","","definitive evidence (04/17/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_901a984a-c678-4f35-81c2-9436785d3698-2020-04-17T165304.309Z","Epilepsy","","",""
"PNP","HGNC:7892","https://search.clinicalgenome.org/kb/genes/HGNC:7892","purine nucleoside phosphorylase deficiency","MONDO:0013171","https://search.clinicalgenome.org/kb/conditions/MONDO:0013171","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7892","Dosage Working Group","definitive evidence (06/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_037da566-326a-4573-ab2b-43bee7c322ed-2025-06-20T170000.000Z","SCID-CID","","",""
"PNPLA2","HGNC:30802","https://search.clinicalgenome.org/kb/genes/HGNC:30802","neutral lipid storage myopathy","MONDO:0012545","https://search.clinicalgenome.org/kb/conditions/MONDO:0012545","Autosomal recessive inheritance","","","","","definitive evidence (07/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd21d68b-7688-4164-ba13-1ced669c4dfa-2022-07-21T160000.000Z","Lysosomal Diseases GCEP","","",""
"PNPLA6","HGNC:16268","https://search.clinicalgenome.org/kb/genes/HGNC:16268","retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome","MONDO:0100155","https://search.clinicalgenome.org/kb/conditions/MONDO:0100155","Autosomal recessive inheritance","","","","","definitive evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bcc502f3-e49f-4549-ba75-782235974d21-2023-05-30T160000.000Z","Syndromic Disorders","","",""
"PNPLA6","HGNC:16268","https://search.clinicalgenome.org/kb/genes/HGNC:16268","PNPLA6-related spastic paraplegia with or without ataxia","MONDO:0100149","https://search.clinicalgenome.org/kb/conditions/MONDO:0100149","Autosomal recessive inheritance","","","","","definitive evidence (11/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f05d3811-d318-4d8e-be25-8b9da90e6d23-2022-11-02T040000.000Z","Syndromic Disorders","","",""
"PNPO","HGNC:30260","https://search.clinicalgenome.org/kb/genes/HGNC:30260","pyridoxal phosphate-responsive seizures","MONDO:0012407","https://search.clinicalgenome.org/kb/conditions/MONDO:0012407","Autosomal recessive inheritance","","","","","definitive evidence (12/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3ff7b38-dd26-458a-afbb-4870785c42ec-2020-12-15T170000.000Z","Epilepsy","","",""
"PNPT1","HGNC:23166","https://search.clinicalgenome.org/kb/genes/HGNC:23166","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (03/19/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ed99943-2ab9-417d-b0ec-ddbfa11c8645-2020-03-19T191429.965Z","Mitochondrial Diseases","","",""
"POC1B","HGNC:30836","https://search.clinicalgenome.org/kb/genes/HGNC:30836","cone-rod dystrophy 20","MONDO:0014427","https://search.clinicalgenome.org/kb/conditions/MONDO:0014427","Autosomal recessive inheritance","","","","","definitive evidence (02/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29cfdbc1-0fdf-4b2e-971d-a8424c38f975-2025-02-18T170000.000Z","Retina","","",""
"POGLUT1","HGNC:22954","https://search.clinicalgenome.org/kb/genes/HGNC:22954","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","","","","","definitive evidence (08/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c3396945-a664-4ada-bb7f-c123ec50b849-2024-08-14T190000.000Z","Muscular Dystrophies and Myopathies","","",""
"POGZ","HGNC:18801","https://search.clinicalgenome.org/kb/genes/HGNC:18801","intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome","MONDO:0014606","https://search.clinicalgenome.org/kb/conditions/MONDO:0014606","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/27/2017)","0 - No Evidence for Triplosensitivity (12/27/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18801","Dosage Working Group","definitive evidence (03/08/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5742d94-0642-4598-9fbd-fd43a2c21559-2020-03-08T230000.000Z","Intellectual Disability and Autism","","",""
"POLA1","HGNC:9173","https://search.clinicalgenome.org/kb/genes/HGNC:9173","X-linked reticulate pigmentary disorder","MONDO:0010523","https://search.clinicalgenome.org/kb/conditions/MONDO:0010523","X-linked inheritance","","","","","moderate evidence (02/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_363bfc6f-748a-4310-8006-dea67415dee0-2025-02-20T120000.000Z","SCID-CID","","",""
"POLD1","HGNC:9175","https://search.clinicalgenome.org/kb/genes/HGNC:9175","non-severe combined immunodeficiency due to polymerase delta deficiency","MONDO:0800145","https://search.clinicalgenome.org/kb/conditions/MONDO:0800145","Autosomal recessive inheritance","1 - Little Evidence for Haploinsufficiency (06/05/2020)","0 - No Evidence for Triplosensitivity (06/05/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9175","Dosage Working Group","limited evidence (02/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73065a32-62bc-4cde-8131-f8f44c09a74f-2023-02-16T180000.000Z","SCID-CID","","",""
"POLD1","HGNC:9175","https://search.clinicalgenome.org/kb/genes/HGNC:9175","POLD1-related polyposis and colorectal cancer syndrome","MONDO:0100351","https://search.clinicalgenome.org/kb/conditions/MONDO:0100351","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (06/05/2020)","0 - No Evidence for Triplosensitivity (06/05/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9175","Dosage Working Group","definitive evidence (07/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c064a017-9158-4eb5-8ea4-036e53798d2c-2023-07-05T170000.000Z","Hereditary Cancer","","",""
"POLD1","HGNC:9175","https://search.clinicalgenome.org/kb/genes/HGNC:9175","mandibular hypoplasia-deafness-progeroid syndrome","MONDO:0014157","https://search.clinicalgenome.org/kb/conditions/MONDO:0014157","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (06/05/2020)","0 - No Evidence for Triplosensitivity (06/05/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9175","Dosage Working Group","definitive evidence (01/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f040fe17-b319-4230-bb3f-8dde1ca5e6e1-2025-01-20T170000.000Z","Monogenic Diabetes","","",""
"POLD1","HGNC:9175","https://search.clinicalgenome.org/kb/genes/HGNC:9175","colorectal cancer, susceptibility to, 10","MONDO:0012953","https://search.clinicalgenome.org/kb/conditions/MONDO:0012953","N/A","1 - Little Evidence for Haploinsufficiency (06/05/2020)","0 - No Evidence for Triplosensitivity (06/05/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9175","Dosage Working Group","","","","Strong Actionability (07/05/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC152",""
"POLD1","HGNC:9175","https://search.clinicalgenome.org/kb/genes/HGNC:9175","Polymerase proofreading-related adenomatous polyposis","MONDO:0018653","https://search.clinicalgenome.org/kb/conditions/MONDO:0018653","N/A","1 - Little Evidence for Haploinsufficiency (06/05/2020)","0 - No Evidence for Triplosensitivity (06/05/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9175","Dosage Working Group","","","","Strong Actionability (07/05/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC152",""
"POLD2","HGNC:9176","https://search.clinicalgenome.org/kb/genes/HGNC:9176","non-severe combined immunodeficiency due to polymerase delta deficiency","MONDO:0800145","https://search.clinicalgenome.org/kb/conditions/MONDO:0800145","Autosomal recessive inheritance","","","","","limited evidence (02/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dac83899-5bf3-4b5e-ba39-868b54cea34a-2023-02-16T180000.000Z","SCID-CID","","",""
"POLD3","HGNC:20932","https://search.clinicalgenome.org/kb/genes/HGNC:20932","immunodeficiency 122","MONDO:0971151","https://search.clinicalgenome.org/kb/conditions/MONDO:0971151","Autosomal recessive inheritance","","","","","limited evidence (06/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0541ce71-475d-408f-84ad-4fe966a101d6-2025-06-20T160000.000Z","SCID-CID","","",""
"POLE","HGNC:9177","https://search.clinicalgenome.org/kb/genes/HGNC:9177","POLE-related polyposis and colorectal cancer syndrome","MONDO:0100287","https://search.clinicalgenome.org/kb/conditions/MONDO:0100287","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (12/16/2019)","0 - No Evidence for Triplosensitivity (12/16/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9177","Dosage Working Group","definitive evidence (07/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b5306f4-0422-42fc-9f67-2d9b263e4e1e-2023-07-05T170000.000Z","Hereditary Cancer","","",""
"POLE","HGNC:9177","https://search.clinicalgenome.org/kb/genes/HGNC:9177","Polymerase proofreading-related adenomatous polyposis","MONDO:0018653","https://search.clinicalgenome.org/kb/conditions/MONDO:0018653","N/A","1 - Little Evidence for Haploinsufficiency (12/16/2019)","0 - No Evidence for Triplosensitivity (12/16/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9177","Dosage Working Group","","","","Strong Actionability (07/05/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC152",""
"POLE","HGNC:9177","https://search.clinicalgenome.org/kb/genes/HGNC:9177","colorectal cancer, susceptibility to, 12","MONDO:0014038","https://search.clinicalgenome.org/kb/conditions/MONDO:0014038","N/A","1 - Little Evidence for Haploinsufficiency (12/16/2019)","0 - No Evidence for Triplosensitivity (12/16/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9177","Dosage Working Group","","","","Strong Actionability (07/05/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC152",""
"POLG","HGNC:9179","https://search.clinicalgenome.org/kb/genes/HGNC:9179","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (06/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1212393e-b517-4430-a8d7-df7e32295aff-2021-06-30T144955.983Z","Mitochondrial Diseases","","",""
"POLH","HGNC:9181","https://search.clinicalgenome.org/kb/genes/HGNC:9181","xeroderma pigmentosum variant type","MONDO:0010214","https://search.clinicalgenome.org/kb/conditions/MONDO:0010214","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/13/2024)","0 - No Evidence for Triplosensitivity (11/13/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9181","Dosage Working Group","definitive evidence (11/02/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdb29404-0c05-4519-b6ee-8591368ad1ff-2018-11-02T215846.146Z","Hereditary Cancer","","",""
"POLL","HGNC:9184","https://search.clinicalgenome.org/kb/genes/HGNC:9184","split hand-foot malformation 3","MONDO:0009525","https://search.clinicalgenome.org/kb/conditions/MONDO:0009525","N/A","0 - No Evidence for Haploinsufficiency (12/21/2011)","0 - No Evidence for Triplosensitivity (12/21/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9184","Dosage Working Group","","","","","",""
"POLR1B","HGNC:20454","https://search.clinicalgenome.org/kb/genes/HGNC:20454","Treacher Collins syndrome 4","MONDO:0030067","https://search.clinicalgenome.org/kb/conditions/MONDO:0030067","Autosomal dominant inheritance","","","","","moderate evidence (02/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32b5efdc-cdc9-4331-9b36-f9d730070818-2023-02-16T170000.000Z","Craniofacial Malformations","","",""
"POLR1C","HGNC:20194","https://search.clinicalgenome.org/kb/genes/HGNC:20194","Treacher Collins syndrome 3","MONDO:0009558","https://search.clinicalgenome.org/kb/conditions/MONDO:0009558","Autosomal recessive inheritance","","","","","moderate evidence (07/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e4708b2e-ed95-481c-a1db-1eeb12f6c0b0-2023-07-20T040000.000Z","Craniofacial Malformations","","",""
"POLR1D","HGNC:20422","https://search.clinicalgenome.org/kb/genes/HGNC:20422","Treacher Collins syndrome 2","MONDO:0013385","https://search.clinicalgenome.org/kb/conditions/MONDO:0013385","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/23/2021)","0 - No Evidence for Triplosensitivity (06/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20422","Dosage Working Group","definitive evidence (12/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be9f1e40-dd42-40af-a429-6f4cfd74a7c2-2022-12-15T170000.000Z","Craniofacial Malformations","","",""
"POLR2A","HGNC:9187","https://search.clinicalgenome.org/kb/genes/HGNC:9187","neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities","MONDO:0032829","https://search.clinicalgenome.org/kb/conditions/MONDO:0032829","Autosomal dominant inheritance","","","","","definitive evidence (03/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_45cab675-1ca5-4c25-97a9-bfeeeb1e112a-2024-03-15T160000.000Z","Syndromic Disorders","","",""
"POLR3A","HGNC:30074","https://search.clinicalgenome.org/kb/genes/HGNC:30074","POLR3A-related disorder","MONDO:0700276","https://search.clinicalgenome.org/kb/conditions/MONDO:0700276","Autosomal recessive inheritance","","","","","definitive evidence (08/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae31bb4b-43af-4516-9f23-af2fd40a732d-2024-08-28T160000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"POLR3B","HGNC:30348","https://search.clinicalgenome.org/kb/genes/HGNC:30348","POLR3B-related disorder","MONDO:0700277","https://search.clinicalgenome.org/kb/conditions/MONDO:0700277","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","definitive evidence (09/03/2025) | definitive evidence (09/03/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d80e3331-c64b-4c98-a355-2571c42792da-2025-09-03T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37ac0331-b1f2-42d7-96fa-e70d6a701152-2025-09-03T160000.000Z","Leukodystrophy and Leukoencephalopathy | Leukodystrophy and Leukoencephalopathy","","",""
"POMGNT1","HGNC:19139","https://search.clinicalgenome.org/kb/genes/HGNC:19139","myopathy caused by variation in POMGNT1","MONDO:0700068","https://search.clinicalgenome.org/kb/conditions/MONDO:0700068","Autosomal recessive inheritance","","","","","definitive evidence (08/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03bb8479-2ed3-4b15-9e54-378ea0729ab2-2024-08-14T190000.000Z","Muscular Dystrophies and Myopathies","","",""
"POMGNT2","HGNC:25902","https://search.clinicalgenome.org/kb/genes/HGNC:25902","myopathy caused by variation in POMGNT2","MONDO:0700069","https://search.clinicalgenome.org/kb/conditions/MONDO:0700069","Autosomal recessive inheritance","","","","","definitive evidence (08/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_522f3d3f-8026-439f-9318-2e4df6097a2e-2024-08-14T190000.000Z","Muscular Dystrophies and Myopathies","","",""
"POMP","HGNC:20330","https://search.clinicalgenome.org/kb/genes/HGNC:20330","keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome","MONDO:0011169","https://search.clinicalgenome.org/kb/conditions/MONDO:0011169","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/27/2015)","0 - No Evidence for Triplosensitivity (08/27/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20330","Dosage Working Group","","","","","",""
"POMT1","HGNC:9202","https://search.clinicalgenome.org/kb/genes/HGNC:9202","myopathy caused by variation in POMT1","MONDO:0700070","https://search.clinicalgenome.org/kb/conditions/MONDO:0700070","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (07/25/2025)","0 - No Evidence for Triplosensitivity (07/25/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9202","Dosage Working Group","definitive evidence (07/26/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_146ee85f-a6c2-468f-aacb-a320767de36e-2024-07-26T063000.000Z","Muscular Dystrophies and Myopathies","","",""
"POMT2","HGNC:19743","https://search.clinicalgenome.org/kb/genes/HGNC:19743","myopathy caused by variation in POMT2","MONDO:0700071","https://search.clinicalgenome.org/kb/conditions/MONDO:0700071","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19743","Dosage Working Group","definitive evidence (07/26/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32427fb1-d583-47eb-a368-685ef56bad3d-2024-07-26T063000.000Z","Muscular Dystrophies and Myopathies","","",""
"POMT2","HGNC:19743","https://search.clinicalgenome.org/kb/genes/HGNC:19743","muscular dystrophy-dystroglycanopathy","MONDO:0018276","https://search.clinicalgenome.org/kb/conditions/MONDO:0018276","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19743","Dosage Working Group","","","","","",""
"POPDC1","HGNC:1152","https://search.clinicalgenome.org/kb/genes/HGNC:1152","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","","","","","definitive evidence (08/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31a0db34-cad3-4746-a40f-2912318dfbd2-2024-08-29T190000.000Z","Muscular Dystrophies and Myopathies","","",""
"POPDC3","HGNC:17649","https://search.clinicalgenome.org/kb/genes/HGNC:17649","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","","","","","moderate evidence (08/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb7755df-a1e3-4398-a771-cd6c2d112b68-2024-08-14T190000.000Z","Muscular Dystrophies and Myopathies","","",""
"POR","HGNC:9208","https://search.clinicalgenome.org/kb/genes/HGNC:9208","Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis","MONDO:0008726","https://search.clinicalgenome.org/kb/conditions/MONDO:0008726","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9208","Dosage Working Group","definitive evidence (03/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6275d46a-f005-45f8-b3ec-e9722f8dd39e-2022-03-23T193729.312Z","Craniofacial Malformations","","",""
"PORCN","HGNC:17652","https://search.clinicalgenome.org/kb/genes/HGNC:17652","focal dermal hypoplasia","MONDO:0010592","https://search.clinicalgenome.org/kb/conditions/MONDO:0010592","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/23/2012)","0 - No Evidence for Triplosensitivity (08/23/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17652","Dosage Working Group","definitive evidence (08/05/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20fc3afa-d10d-4239-885f-24e91cbb31a8-2020-08-05T124432.168Z","Intellectual Disability and Autism","","",""
"POT1","HGNC:17284","https://search.clinicalgenome.org/kb/genes/HGNC:17284","tumor predisposition syndrome 3","MONDO:0014368","https://search.clinicalgenome.org/kb/conditions/MONDO:0014368","N/A","2 - Emerging Evidence for Haploinsufficiency (05/30/2025)","0 - No Evidence for Triplosensitivity (05/30/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17284","Dosage Working Group","","","","","",""
"POU2AF1","HGNC:9211","https://search.clinicalgenome.org/kb/genes/HGNC:9211","agammaglobulinemia","MONDO:0015977","https://search.clinicalgenome.org/kb/conditions/MONDO:0015977","Autosomal recessive inheritance","","","","","limited evidence (09/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfebbac7-4e4e-4bd6-8977-1b490e915f45-2022-09-20T160000.000Z","Antibody Deficiencies GCEP","","",""
"POU3F3","HGNC:9216","https://search.clinicalgenome.org/kb/genes/HGNC:9216","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (01/14/2025)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9216","Dosage Working Group","definitive evidence (06/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47a5379c-d723-4b1f-aa3c-6b5398451f77-2024-06-13T180000.000Z","Intellectual Disability and Autism","","",""
"POU3F4","HGNC:9217","https://search.clinicalgenome.org/kb/genes/HGNC:9217","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/28/2025)","0 - No Evidence for Triplosensitivity (05/28/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9217","Dosage Working Group","definitive evidence (01/05/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ab4f4a3-757d-4de3-90e7-42a229c360a0-2018-01-05T170000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"POU3F4","HGNC:9217","https://search.clinicalgenome.org/kb/genes/HGNC:9217","X-linked deafness","MONDO:0020768","https://search.clinicalgenome.org/kb/conditions/MONDO:0020768","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/28/2025)","0 - No Evidence for Triplosensitivity (05/28/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9217","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"POU3F4","HGNC:9217","https://search.clinicalgenome.org/kb/genes/HGNC:9217","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/28/2025)","0 - No Evidence for Triplosensitivity (05/28/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9217","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"POU3F4","HGNC:9217","https://search.clinicalgenome.org/kb/genes/HGNC:9217","X-linked mixed hearing loss with perilymphatic gusher","MONDO:0010576","https://search.clinicalgenome.org/kb/conditions/MONDO:0010576","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/28/2025)","0 - No Evidence for Triplosensitivity (05/28/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9217","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"POU4F3","HGNC:9220","https://search.clinicalgenome.org/kb/genes/HGNC:9220","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/29/2023)","0 - No Evidence for Triplosensitivity (11/29/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9220","Dosage Working Group","definitive evidence (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1476f1d9-7538-40bd-b602-b76781630cee-2017-11-21T170000.000Z","Hearing Loss","","",""
"POU4F3","HGNC:9220","https://search.clinicalgenome.org/kb/genes/HGNC:9220","autosomal dominant nonsyndromic hearing loss 15","MONDO:0011226","https://search.clinicalgenome.org/kb/conditions/MONDO:0011226","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/29/2023)","0 - No Evidence for Triplosensitivity (11/29/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9220","Dosage Working Group","","","","","",""
"PPA2","HGNC:28883","https://search.clinicalgenome.org/kb/genes/HGNC:28883","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","strong evidence (05/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35b7716c-4c72-4ca2-b176-e732d136ed0d-2025-05-16T160000.000Z","Dilated Cardiomyopathy","","",""
"PPARG","HGNC:9236","https://search.clinicalgenome.org/kb/genes/HGNC:9236","lipodystrophy","MONDO:0006573","https://search.clinicalgenome.org/kb/conditions/MONDO:0006573","Semidominant inheritance","","","","","definitive evidence (08/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4c76c1c-7e8a-418f-ba62-b7eeb3c3d472-2024-08-14T160000.000Z","Monogenic Diabetes","","",""
"PPIB","HGNC:9255","https://search.clinicalgenome.org/kb/genes/HGNC:9255","osteogenesis imperfecta type 9","MONDO:0009805","https://search.clinicalgenome.org/kb/conditions/MONDO:0009805","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9255","Dosage Working Group","","","","","",""
"PPIP5K1","HGNC:29023","https://search.clinicalgenome.org/kb/genes/HGNC:29023","autosomal recessive nonsyndromic hearing loss 16","MONDO:0011364","https://search.clinicalgenome.org/kb/conditions/MONDO:0011364","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/27/2012)","0 - No Evidence for Triplosensitivity (08/27/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29023","Dosage Working Group","","","","","",""
"PPM1D","HGNC:9277","https://search.clinicalgenome.org/kb/genes/HGNC:9277","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/28/2023)","0 - No Evidence for Triplosensitivity (03/28/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9277","Dosage Working Group","definitive evidence (02/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a93ec2cb-1632-4439-bdd9-4bcae1bb779f-2022-02-15T170000.000Z","Intellectual Disability and Autism","","",""
"PPM1K","HGNC:25415","https://search.clinicalgenome.org/kb/genes/HGNC:25415","maple syrup urine disease, mild variant","MONDO:0014057","https://search.clinicalgenome.org/kb/conditions/MONDO:0014057","Autosomal recessive inheritance","","","","","moderate evidence (12/22/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2b1c4d4-ca12-4456-afe0-f727106afeaf-2023-12-22T170000.000Z","Aminoacidopathy","","",""
"PPOX","HGNC:9280","https://search.clinicalgenome.org/kb/genes/HGNC:9280","variegate porphyria","MONDO:0008297","https://search.clinicalgenome.org/kb/conditions/MONDO:0008297","Semidominant inheritance","","","","","strong evidence (06/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_640ca35e-1c12-4108-a6d7-93e0b7989f48-2024-06-02T190000.000Z","General Inborn Errors of Metabolism","","",""
"PPP1CB","HGNC:9282","https://search.clinicalgenome.org/kb/genes/HGNC:9282","Noonan syndrome-like disorder with loose anagen hair","MONDO:0011899","https://search.clinicalgenome.org/kb/conditions/MONDO:0011899","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (05/28/2025)","0 - No Evidence for Triplosensitivity (05/28/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9282","Dosage Working Group","definitive evidence (04/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_16bcb316-090f-420d-9c89-b7642d3dc725-2020-04-23T160000.000Z","RASopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/01/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/01/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1026 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1026"," | "
"PPP1CB","HGNC:9282","https://search.clinicalgenome.org/kb/genes/HGNC:9282","Noonan syndrome-like disorder with loose anagen hair 2","MONDO:0054588","https://search.clinicalgenome.org/kb/conditions/MONDO:0054588","N/A","0 - No Evidence for Haploinsufficiency (05/28/2025)","0 - No Evidence for Triplosensitivity (05/28/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9282","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/01/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/01/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1026 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1026"," | "
"PPP1R12A","HGNC:7618","https://search.clinicalgenome.org/kb/genes/HGNC:7618","genitourinary and/or brain malformation syndrome","MONDO:0032934","https://search.clinicalgenome.org/kb/conditions/MONDO:0032934","Autosomal dominant inheritance","","","","","strong evidence (07/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93fa5165-a907-4ca8-b0d3-bb174bf3fca9-2021-07-27T145458.008Z","Syndromic Disorders","","",""
"PPP1R13L","HGNC:18838","https://search.clinicalgenome.org/kb/genes/HGNC:18838","arrhythmogenic cardiomyopathy with variable ectodermal abnormalities","MONDO:0957795","https://search.clinicalgenome.org/kb/conditions/MONDO:0957795","Autosomal recessive inheritance","","","","","definitive evidence (10/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e5a39d8-c867-4dab-a296-1952fa66b7b0-2024-10-18T160000.000Z","Dilated Cardiomyopathy","","",""
"PPP1R21","HGNC:30595","https://search.clinicalgenome.org/kb/genes/HGNC:30595","neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities","MONDO:0859165","https://search.clinicalgenome.org/kb/conditions/MONDO:0859165","Autosomal recessive inheritance","","","","","strong evidence (10/24/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d8743574-2fe2-4819-a7bd-40e94d20065e-2023-10-24T160000.000Z","Syndromic Disorders","","",""
"PPP2R1A","HGNC:9302","https://search.clinicalgenome.org/kb/genes/HGNC:9302","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (12/06/2023)","0 - No Evidence for Triplosensitivity (12/06/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9302","Dosage Working Group","definitive evidence (11/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1aae8155-7cb1-44ee-9cee-17bb22e6a0ad-2022-11-16T170000.000Z","Intellectual Disability and Autism","","",""
"PPP2R5D","HGNC:9312","https://search.clinicalgenome.org/kb/genes/HGNC:9312","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (05/26/2021)","0 - No Evidence for Triplosensitivity (05/26/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9312","Dosage Working Group","definitive evidence (04/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4b43ff91-1ea4-475b-97d9-6fbda924ea16-2025-04-16T100000.000Z","Intellectual Disability and Autism","","",""
"PPP2R5D","HGNC:9312","https://search.clinicalgenome.org/kb/genes/HGNC:9312","Hogue-Janssens syndrome 1","MONDO:0014602","https://search.clinicalgenome.org/kb/conditions/MONDO:0014602","N/A","1 - Little Evidence for Haploinsufficiency (05/26/2021)","0 - No Evidence for Triplosensitivity (05/26/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9312","Dosage Working Group","","","","","",""
"PPT1","HGNC:9325","https://search.clinicalgenome.org/kb/genes/HGNC:9325","neuronal ceroid lipofuscinosis","MONDO:0016295","https://search.clinicalgenome.org/kb/conditions/MONDO:0016295","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9325","Dosage Working Group","definitive evidence (06/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae7ebc05-9401-4932-afe2-a80e0d31e12f-2024-06-10T190000.000Z","Epilepsy","","",""
"PPT1","HGNC:9325","https://search.clinicalgenome.org/kb/genes/HGNC:9325","neuronal ceroid lipofuscinosis 1","MONDO:0009744","https://search.clinicalgenome.org/kb/conditions/MONDO:0009744","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9325","Dosage Working Group","","","","","",""
"PQBP1","HGNC:9330","https://search.clinicalgenome.org/kb/genes/HGNC:9330","Renpenning syndrome","MONDO:0010653","https://search.clinicalgenome.org/kb/conditions/MONDO:0010653","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/09/2020)","0 - No Evidence for Triplosensitivity (04/09/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9330","Dosage Working Group","definitive evidence (11/07/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8128f36b-f273-49ee-bfd8-bee64b4df921-2018-11-07T110000.000Z","Intellectual Disability and Autism","","",""
"PRCD","HGNC:32528","https://search.clinicalgenome.org/kb/genes/HGNC:32528","retinitis pigmentosa 36","MONDO:0012523","https://search.clinicalgenome.org/kb/conditions/MONDO:0012523","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:32528","Dosage Working Group","","","","","",""
"PRDM16","HGNC:14000","https://search.clinicalgenome.org/kb/genes/HGNC:14000","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","strong evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0a3445a-5bb0-4d77-a4f0-5b7cfceb837f-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"PREPL","HGNC:30228","https://search.clinicalgenome.org/kb/genes/HGNC:30228","myasthenic syndrome, congenital, 22","MONDO:0044299","https://search.clinicalgenome.org/kb/conditions/MONDO:0044299","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/21/2012)","0 - No Evidence for Triplosensitivity (03/21/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30228","Dosage Working Group","","","","","",""
"PRF1","HGNC:9360","https://search.clinicalgenome.org/kb/genes/HGNC:9360","familial hemophagocytic lymphohistiocytosis 2","MONDO:0011337","https://search.clinicalgenome.org/kb/conditions/MONDO:0011337","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (07/09/2025)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9360","Dosage Working Group","definitive evidence (08/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6705dc54-6e7e-4d7f-8377-4e87bb093819-2023-08-15T110000.000Z","Primary Immune Regulatory Disorders","","",""
"PRG4","HGNC:9364","https://search.clinicalgenome.org/kb/genes/HGNC:9364","camptodactyly-arthropathy-coxa vara-pericarditis syndrome","MONDO:0008828","https://search.clinicalgenome.org/kb/conditions/MONDO:0008828","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9364","Dosage Working Group","definitive evidence (07/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b4be938-664c-421e-922b-dc6ac83e5dec-2021-07-30T130737.801Z","Syndromic Disorders","","",""
"PRICKLE1","HGNC:17019","https://search.clinicalgenome.org/kb/genes/HGNC:17019","progressive myoclonus epilepsy","MONDO:0020074","https://search.clinicalgenome.org/kb/conditions/MONDO:0020074","Autosomal recessive inheritance","","","","","limited evidence (07/01/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4e1195f-21ea-4721-b94b-99604e7c6554-2025-07-01T160000.000Z","Epilepsy","","",""
"PRICKLE1","HGNC:17019","https://search.clinicalgenome.org/kb/genes/HGNC:17019","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","","","","","disputing (09/01/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_71a3c632-fd63-4103-a069-5e9e413043e7-2020-09-01T160000.000Z","Epilepsy","","",""
"PRICKLE2","HGNC:20340","https://search.clinicalgenome.org/kb/genes/HGNC:20340","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","limited evidence (12/29/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1713884-4e19-4810-b73f-871645cfc0c3-2022-12-29T170000.000Z","Epilepsy","","",""
"PRIM1","HGNC:9369","https://search.clinicalgenome.org/kb/genes/HGNC:9369","primordial dwarfism-immunodeficiency-lipodystrophy syndrome","MONDO:0859276","https://search.clinicalgenome.org/kb/conditions/MONDO:0859276","Autosomal recessive inheritance","","","","","moderate evidence (03/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56859937-d536-48e8-915d-2f2b7ff07c74-2025-03-20T160000.000Z","SCID-CID","","",""
"PRIMA1","HGNC:18319","https://search.clinicalgenome.org/kb/genes/HGNC:18319","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal recessive inheritance","","","","","limited evidence (01/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2247fe32-492c-4a1b-8e1c-5ee13bae944a-2025-01-07T180000.000Z","Epilepsy","","",""
"PRKACG","HGNC:9382","https://search.clinicalgenome.org/kb/genes/HGNC:9382","platelet-type bleeding disorder 19","MONDO:0014518","https://search.clinicalgenome.org/kb/conditions/MONDO:0014518","Autosomal recessive inheritance","","","","","disputing (05/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d74cf9f-a082-4cca-9a70-d634c3d0078b-2024-05-03T170000.000Z","Hemostasis Thrombosis","","",""
"PRKAG2","HGNC:9386","https://search.clinicalgenome.org/kb/genes/HGNC:9386","PRKAG2-related cardiomyopathy","MONDO:0800484","https://search.clinicalgenome.org/kb/conditions/MONDO:0800484","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/05/2015)","0 - No Evidence for Triplosensitivity (11/05/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9386","Dosage Working Group","definitive evidence (06/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27297fe8-ceca-432f-bd0b-ffadf65c4c41-2022-06-14T160000.000Z","Hereditary Cardiovascular Disease","","",""
"PRKAG2","HGNC:9386","https://search.clinicalgenome.org/kb/genes/HGNC:9386","familial hypertrophic cardiomyopathy","MONDO:0024573","https://search.clinicalgenome.org/kb/conditions/MONDO:0024573","N/A","0 - No Evidence for Haploinsufficiency (11/05/2015)","0 - No Evidence for Triplosensitivity (11/05/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9386","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"PRKAG2","HGNC:9386","https://search.clinicalgenome.org/kb/genes/HGNC:9386","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","N/A","0 - No Evidence for Haploinsufficiency (11/05/2015)","0 - No Evidence for Triplosensitivity (11/05/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9386","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"PRKAG2","HGNC:9386","https://search.clinicalgenome.org/kb/genes/HGNC:9386","hypertrophic cardiomyopathy 6","MONDO:0010946","https://search.clinicalgenome.org/kb/conditions/MONDO:0010946","N/A","0 - No Evidence for Haploinsufficiency (11/05/2015)","0 - No Evidence for Triplosensitivity (11/05/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9386","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"PRKAR1A","HGNC:9388","https://search.clinicalgenome.org/kb/genes/HGNC:9388","Carney complex, type 1","MONDO:0008057","https://search.clinicalgenome.org/kb/conditions/MONDO:0008057","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/09/2024)","0 - No Evidence for Triplosensitivity (10/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9388","Dosage Working Group","definitive evidence (12/21/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc16b2a9-c8dc-4a04-a029-2f6af049404d-2018-12-21T154044.801Z","Hereditary Cancer","Moderate Actionability (08/06/2019) | Strong Actionability (08/06/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1004 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1004"," | "
"PRKAR1A","HGNC:9388","https://search.clinicalgenome.org/kb/genes/HGNC:9388","Carney complex","MONDO:0015285","https://search.clinicalgenome.org/kb/conditions/MONDO:0015285","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/09/2024)","0 - No Evidence for Triplosensitivity (10/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9388","Dosage Working Group","","","","Moderate Actionability (08/06/2019) | Strong Actionability (08/06/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1004 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1004"," | "
"PRKCD","HGNC:9399","https://search.clinicalgenome.org/kb/genes/HGNC:9399","systemic lupus erythematosus","MONDO:0007915","https://search.clinicalgenome.org/kb/conditions/MONDO:0007915","Autosomal recessive inheritance","","","","","definitive evidence (10/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_842fc2a6-9c37-47f1-8c38-bacb3880d31a-2024-10-11T190000.000Z","Monogenic Systemic and Incomplete Lupus Erythematosus","","",""
"PRKCSH","HGNC:9411","https://search.clinicalgenome.org/kb/genes/HGNC:9411","polycystic liver disease 1","MONDO:0008265","https://search.clinicalgenome.org/kb/conditions/MONDO:0008265","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/08/2025)","0 - No Evidence for Triplosensitivity (07/08/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9411","Dosage Working Group","definitive evidence (07/08/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83607ef3-6ec2-4d63-991a-4aeb3f7c2a25-2020-07-08T040000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"PRKD1","HGNC:9407","https://search.clinicalgenome.org/kb/genes/HGNC:9407","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance | Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (04/08/2025)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9407","Dosage Working Group","limited evidence (04/30/2024) | limited evidence (04/30/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1dc39882-3a53-46eb-aa2f-0d92ed03605b-2024-04-30T050000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_913dec3f-cd09-45c7-8cd4-3441ddb5dd77-2024-04-30T160000.000Z","Congenital Heart Disease | Congenital Heart Disease","","",""
"PRKDC","HGNC:9413","https://search.clinicalgenome.org/kb/genes/HGNC:9413","severe combined immunodeficiency due to DNA-PKcs deficiency","MONDO:0014423","https://search.clinicalgenome.org/kb/conditions/MONDO:0014423","Autosomal recessive inheritance","","","","","definitive evidence (02/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fff25ca1-bbe5-47d3-b672-4b675a9fa6f7-2022-02-01T151658.605Z","SCID-CID","","",""
"PRKG1","HGNC:9414","https://search.clinicalgenome.org/kb/genes/HGNC:9414","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","","","","","strong evidence (12/22/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8259","Heritable Thoracic Aortic Aneurysm and Dissection","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC134 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC134"," | "
"PRKN","HGNC:8607","https://search.clinicalgenome.org/kb/genes/HGNC:8607","Parkinson disease","MONDO:0005180","https://search.clinicalgenome.org/kb/conditions/MONDO:0005180","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/15/2018)","0 - No Evidence for Triplosensitivity (05/15/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8607","Dosage Working Group","definitive evidence (01/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b39c4a0-f6bd-4afc-b2a7-f234eab5a667-2023-01-18T190000.000Z","Parkinson's Disease","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"PRKN","HGNC:8607","https://search.clinicalgenome.org/kb/genes/HGNC:8607","young-onset Parkinson disease","MONDO:0017279","https://search.clinicalgenome.org/kb/conditions/MONDO:0017279","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (05/15/2018)","0 - No Evidence for Triplosensitivity (05/15/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8607","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"PRKN","HGNC:8607","https://search.clinicalgenome.org/kb/genes/HGNC:8607","autosomal recessive juvenile Parkinson disease 2","MONDO:0010820","https://search.clinicalgenome.org/kb/conditions/MONDO:0010820","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (05/15/2018)","0 - No Evidence for Triplosensitivity (05/15/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8607","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"PROC","HGNC:9451","https://search.clinicalgenome.org/kb/genes/HGNC:9451","hereditary thrombophilia due to congenital protein C deficiency","MONDO:0019145","https://search.clinicalgenome.org/kb/conditions/MONDO:0019145","Semidominant inheritance","","","","","definitive evidence (01/22/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6fe2f63-36ad-40c2-beb6-8804de17409d-2020-01-22T170000.000Z","Hemostasis Thrombosis","Limited Actionability (05/09/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC135",""
"PROC","HGNC:9451","https://search.clinicalgenome.org/kb/genes/HGNC:9451","thrombophilia due to protein C deficiency, autosomal dominant","MONDO:0008316","https://search.clinicalgenome.org/kb/conditions/MONDO:0008316","N/A","","","","","","","","Limited Actionability (05/09/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC135",""
"PRODH","HGNC:9453","https://search.clinicalgenome.org/kb/genes/HGNC:9453","hyperprolinemia type 1","MONDO:0009400","https://search.clinicalgenome.org/kb/conditions/MONDO:0009400","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/08/2022)","0 - No Evidence for Triplosensitivity (11/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9453","Dosage Working Group","definitive evidence (04/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f28c677-a9b4-4bb3-9aed-14af97ad9896-2021-04-27T160000.000Z","Aminoacidopathy","","",""
"PRODH2","HGNC:17325","https://search.clinicalgenome.org/kb/genes/HGNC:17325","hydroxyprolinemia","MONDO:0009374","https://search.clinicalgenome.org/kb/conditions/MONDO:0009374","Autosomal recessive inheritance","","","","","limited evidence (12/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9101c67-2635-4595-b9a8-8e749bba58d1-2022-12-12T170000.000Z","Aminoacidopathy","","",""
"PROK2","HGNC:18455","https://search.clinicalgenome.org/kb/genes/HGNC:18455","hypogonadotropic hypogonadism 4 with or without anosmia","MONDO:0012528","https://search.clinicalgenome.org/kb/conditions/MONDO:0012528","Semidominant inheritance","","","","","definitive evidence (03/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2305ec95-325d-4ebe-9401-121705e49660-2022-03-22T160000.000Z","Brain Malformations","","",""
"PROKR2","HGNC:15836","https://search.clinicalgenome.org/kb/genes/HGNC:15836","hypogonadotropic hypogonadism 3 with or without anosmia","MONDO:0009482","https://search.clinicalgenome.org/kb/conditions/MONDO:0009482","Autosomal dominant inheritance","","","","","definitive evidence (04/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ed279e5-f1a6-4f02-818e-e34aaf8c9947-2022-04-26T160000.000Z","Brain Malformations","","",""
"PROM1","HGNC:9454","https://search.clinicalgenome.org/kb/genes/HGNC:9454","PROM1-related recessive retinopathy","MONDO:1040052","https://search.clinicalgenome.org/kb/conditions/MONDO:1040052","Autosomal recessive inheritance","","","","","definitive evidence (04/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc5e9aa6-cfc9-4d12-bf28-319c2a272497-2024-04-04T160000.000Z","Retina","","",""
"PROM1","HGNC:9454","https://search.clinicalgenome.org/kb/genes/HGNC:9454","PROM1-related dominant retinopathy","MONDO:1040053","https://search.clinicalgenome.org/kb/conditions/MONDO:1040053","Autosomal dominant inheritance","","","","","definitive evidence (10/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b728d068-262a-4d66-b615-75a539005c82-2024-10-03T160000.000Z","Retina","","",""
"PROP1","HGNC:9455","https://search.clinicalgenome.org/kb/genes/HGNC:9455","pituitary hormone deficiency, combined, 2","MONDO:0009878","https://search.clinicalgenome.org/kb/conditions/MONDO:0009878","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9455","Dosage Working Group","","","","","",""
"PRORP","HGNC:19958","https://search.clinicalgenome.org/kb/genes/HGNC:19958","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (04/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3745add8-6f0f-4385-9422-afe1f3a80097-2024-04-15T040000.000Z","Mitochondrial Diseases","","",""
"PROS1","HGNC:9456","https://search.clinicalgenome.org/kb/genes/HGNC:9456","protein S deficiency","MONDO:0002304","https://search.clinicalgenome.org/kb/conditions/MONDO:0002304","Semidominant inheritance","","","","","definitive evidence (01/22/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10e3af9d-80aa-4934-b592-594b1bd1cd92-2020-01-22T170000.000Z","Hemostasis Thrombosis","","",""
"PROS1","HGNC:9456","https://search.clinicalgenome.org/kb/genes/HGNC:9456","hereditary thrombophilia due to congenital protein S deficiency","MONDO:0019144","https://search.clinicalgenome.org/kb/conditions/MONDO:0019144","N/A","","","","","","","","Limited Actionability (06/12/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC137",""
"PROS1","HGNC:9456","https://search.clinicalgenome.org/kb/genes/HGNC:9456","thrombophilia due to protein S deficiency, autosomal dominant","MONDO:0012868","https://search.clinicalgenome.org/kb/conditions/MONDO:0012868","N/A","","","","","","","","Limited Actionability (06/12/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC137",""
"PROX1","HGNC:9459","https://search.clinicalgenome.org/kb/genes/HGNC:9459","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (08/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13302ea4-4b24-44eb-95fd-d7f72bb0a16a-2024-08-12T170000.000Z","Congenital Heart Disease","","",""
"PRPF3","HGNC:17348","https://search.clinicalgenome.org/kb/genes/HGNC:17348","retinitis pigmentosa 18","MONDO:0011075","https://search.clinicalgenome.org/kb/conditions/MONDO:0011075","Autosomal dominant inheritance","","","","","definitive evidence (03/26/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ac00edf-2909-49b1-a859-6307f022a13e-2025-03-26T160000.000Z","Retina","","",""
"PRPF31","HGNC:15446","https://search.clinicalgenome.org/kb/genes/HGNC:15446","PRPF31-related retinopathy","MONDO:0800395","https://search.clinicalgenome.org/kb/conditions/MONDO:0800395","Autosomal dominant inheritance","","","","","definitive evidence (07/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81f354cf-29c2-4955-a09d-735463f16a35-2022-07-07T160000.000Z","Retina","","",""
"PRPF4","HGNC:17349","https://search.clinicalgenome.org/kb/genes/HGNC:17349","inherited retinal dystrophy","MONDO:0019118","https://search.clinicalgenome.org/kb/conditions/MONDO:0019118","Autosomal dominant inheritance","","","","","moderate evidence (08/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8db34ddb-4693-4efe-b62a-a2238f5696c8-2024-08-01T160000.000Z","Retina","","",""
"PRPF8","HGNC:17340","https://search.clinicalgenome.org/kb/genes/HGNC:17340","PRPF8-related retinopathy","MONDO:0700234","https://search.clinicalgenome.org/kb/conditions/MONDO:0700234","Autosomal dominant inheritance","","","","","definitive evidence (04/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9efbbc3-6ce1-4f92-8472-627c2060dd88-2023-04-06T160000.000Z","Retina","","",""
"PRPH","HGNC:9461","https://search.clinicalgenome.org/kb/genes/HGNC:9461","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","","","","","limited evidence (12/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d11b04d-508a-4f91-9d9a-b5016fd0b940-2022-12-13T170000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"PRPH2","HGNC:9942","https://search.clinicalgenome.org/kb/genes/HGNC:9942","PRPH2-related retinopathy","MONDO:1040055","https://search.clinicalgenome.org/kb/conditions/MONDO:1040055","Semidominant inheritance","","","","","definitive evidence (02/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f069086-b0fb-4aaa-9921-aec158b938b5-2024-02-01T170000.000Z","Retina","","",""
"PRPS1","HGNC:9462","https://search.clinicalgenome.org/kb/genes/HGNC:9462","phosphoribosylpyrophosphate synthetase superactivity","MONDO:0010395","https://search.clinicalgenome.org/kb/conditions/MONDO:0010395","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/17/2012)","0 - No Evidence for Triplosensitivity (05/17/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9462","Dosage Working Group","limited evidence (02/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76dc3f8d-e1c9-4506-9381-d2b5ab3df300-2020-02-14T170000.000Z","Hearing Loss","","",""
"PRPS1","HGNC:9462","https://search.clinicalgenome.org/kb/genes/HGNC:9462","PRPS1 deficiency disorder","MONDO:0100061","https://search.clinicalgenome.org/kb/conditions/MONDO:0100061","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/17/2012)","0 - No Evidence for Triplosensitivity (05/17/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9462","Dosage Working Group","definitive evidence (02/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9416f6e2-8de3-48b0-9a1c-9bd11a59315c-2020-02-14T170000.000Z","Hearing Loss","","",""
"PRR12","HGNC:29217","https://search.clinicalgenome.org/kb/genes/HGNC:29217","neuroocular syndrome","MONDO:0859193","https://search.clinicalgenome.org/kb/conditions/MONDO:0859193","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/29/2023)","0 - No Evidence for Triplosensitivity (11/29/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29217","Dosage Working Group","definitive evidence (01/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d645c7ed-51f7-4695-a47d-ec3172ab3833-2024-01-19T170000.000Z","Syndromic Disorders","","",""
"PRRT2","HGNC:30500","https://search.clinicalgenome.org/kb/genes/HGNC:30500","infantile convulsions and choreoathetosis","MONDO:0011178","https://search.clinicalgenome.org/kb/conditions/MONDO:0011178","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/28/2025)","0 - No Evidence for Triplosensitivity (10/28/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30500","Dosage Working Group","definitive evidence (01/21/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_62af25b8-b9a4-421f-b897-4fc222569618-2020-01-21T213814.191Z","Epilepsy","","",""
"PRRT2","HGNC:30500","https://search.clinicalgenome.org/kb/genes/HGNC:30500","self-limited familial infantile epilepsy","MONDO:0100024","https://search.clinicalgenome.org/kb/conditions/MONDO:0100024","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/28/2025)","0 - No Evidence for Triplosensitivity (10/28/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30500","Dosage Working Group","","","","","",""
"PRSS1","HGNC:9475","https://search.clinicalgenome.org/kb/genes/HGNC:9475","hereditary chronic pancreatitis","MONDO:0008185","https://search.clinicalgenome.org/kb/conditions/MONDO:0008185","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/29/2012)","0 - No Evidence for Triplosensitivity (10/29/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9475","Dosage Working Group","definitive evidence (07/30/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d271c52b-b0bb-4e9b-a745-ea03dc716fa0-2020-07-30T205014.833Z","Hereditary Cancer","","",""
"PRSS12","HGNC:9477","https://search.clinicalgenome.org/kb/genes/HGNC:9477","non-syndromic intellectual disability","MONDO:0000509","https://search.clinicalgenome.org/kb/conditions/MONDO:0000509","Autosomal recessive inheritance","","","","","limited evidence (08/04/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d98f99d6-b1df-4cad-a53b-c94cfb532167-2021-08-04T060000.000Z","Intellectual Disability and Autism","","",""
"PRX","HGNC:13797","https://search.clinicalgenome.org/kb/genes/HGNC:13797","Charcot-Marie-Tooth disease type 4","MONDO:0018995","https://search.clinicalgenome.org/kb/conditions/MONDO:0018995","Autosomal recessive inheritance","","","","","definitive evidence (01/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_471d2fcc-f9d4-49d7-92b9-d16f5f751d83-2023-01-10T170000.000Z","Charcot-Marie-Tooth","","",""
"PSAP","HGNC:9498","https://search.clinicalgenome.org/kb/genes/HGNC:9498","Gaucher disease due to saposin C deficiency","MONDO:0012517","https://search.clinicalgenome.org/kb/conditions/MONDO:0012517","Autosomal recessive inheritance","","","","","definitive evidence (06/26/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e949cb92-7d76-471e-9e37-44fd7f00964b-2023-06-26T160000.000Z","Lysosomal Diseases GCEP","","",""
"PSAP","HGNC:9498","https://search.clinicalgenome.org/kb/genes/HGNC:9498","combined PSAP deficiency","MONDO:0012719","https://search.clinicalgenome.org/kb/conditions/MONDO:0012719","Autosomal recessive inheritance","","","","","definitive evidence (07/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb727feb-42ad-4035-868c-7a217da8e31f-2023-07-20T160000.000Z","Lysosomal Diseases GCEP","","",""
"PSAP","HGNC:9498","https://search.clinicalgenome.org/kb/genes/HGNC:9498","metachromatic leukodystrophy due to saposin B deficiency","MONDO:0009590","https://search.clinicalgenome.org/kb/conditions/MONDO:0009590","Autosomal recessive inheritance","","","","","definitive evidence (07/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e24c4e4-a97d-4d08-abd9-e190fb001b9d-2023-07-20T160000.000Z","Lysosomal Diseases GCEP","","",""
"PSAP","HGNC:9498","https://search.clinicalgenome.org/kb/genes/HGNC:9498","Krabbe disease due to saposin A deficiency","MONDO:0012720","https://search.clinicalgenome.org/kb/conditions/MONDO:0012720","Autosomal recessive inheritance","","","","","moderate evidence (09/12/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d3b621df-e104-4d9e-bd9b-f60dd6a40182-2025-09-12T160000.000Z","Lysosomal Diseases GCEP","","",""
"PSAT1","HGNC:19129","https://search.clinicalgenome.org/kb/genes/HGNC:19129","neurometabolic disorder due to serine deficiency","MONDO:0018162","https://search.clinicalgenome.org/kb/conditions/MONDO:0018162","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19129","Dosage Working Group","definitive evidence (06/29/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca702099-7dc9-4434-b661-a6f9b8c72d5c-2020-06-29T165656.452Z","Aminoacidopathy","","",""
"PSD3","HGNC:19093","https://search.clinicalgenome.org/kb/genes/HGNC:19093","antecubital pterygium syndrome","MONDO:0008339","https://search.clinicalgenome.org/kb/conditions/MONDO:0008339","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (12/07/2016)","0 - No Evidence for Triplosensitivity (12/07/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19093","Dosage Working Group","limited evidence (11/24/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_4845","General Gene Curation","","",""
"PSEN1","HGNC:9508","https://search.clinicalgenome.org/kb/genes/HGNC:9508","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","disputing (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d71e8591-dece-4855-ae6c-d43e20cbf836-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"PSEN2","HGNC:9509","https://search.clinicalgenome.org/kb/genes/HGNC:9509","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","no known disease relationship (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e20579f-efc7-4ccd-8653-85c0aafe788f-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"PSMB10","HGNC:9538","https://search.clinicalgenome.org/kb/genes/HGNC:9538","immunodeficiency 121 with autoinflammation","MONDO:0971001","https://search.clinicalgenome.org/kb/conditions/MONDO:0971001","Autosomal dominant inheritance","","","","","limited evidence (07/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28d652d5-6bd7-443b-92dd-051740e2c3dc-2025-07-21T170000.000Z","SCID-CID","","",""
"PSMD12","HGNC:9557","https://search.clinicalgenome.org/kb/genes/HGNC:9557","Stankiewicz-Isidor syndrome","MONDO:0054591","https://search.clinicalgenome.org/kb/conditions/MONDO:0054591","Autosomal dominant inheritance","","","","","definitive evidence (03/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ca4eea6-b6b2-41dd-8420-84f886e6d849-2024-03-05T070000.000Z","Intellectual Disability and Autism","","",""
"PSPH","HGNC:9577","https://search.clinicalgenome.org/kb/genes/HGNC:9577","neurometabolic disorder due to serine deficiency","MONDO:0018162","https://search.clinicalgenome.org/kb/conditions/MONDO:0018162","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9577","Dosage Working Group","moderate evidence (12/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa832956-c4e9-4620-a2e7-3d6d6e9eea8c-2024-12-13T170000.000Z","Aminoacidopathy","","",""
"PSPH","HGNC:9577","https://search.clinicalgenome.org/kb/genes/HGNC:9577","PSPH deficiency","MONDO:0013531","https://search.clinicalgenome.org/kb/conditions/MONDO:0013531","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9577","Dosage Working Group","","","","","",""
"PTCD3","HGNC:24717","https://search.clinicalgenome.org/kb/genes/HGNC:24717","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (06/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac3d1e08-56f0-43b6-a2fa-0d06571ba121-2019-06-20T164419.242Z","Mitochondrial Diseases","","",""
"PTCH1","HGNC:9585","https://search.clinicalgenome.org/kb/genes/HGNC:9585","nevoid basal cell carcinoma syndrome","MONDO:0007187","https://search.clinicalgenome.org/kb/conditions/MONDO:0007187","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/01/2020)","0 - No Evidence for Triplosensitivity (07/01/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9585","Dosage Working Group","definitive evidence (06/04/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a3f55f5-e39b-4571-a41f-e46ddb8e298d-2018-06-04T170000.000Z","Hereditary Cancer","Moderate Actionability (11/07/2022) | Limited Actionability (11/07/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC087 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC087"," | "
"PTCH2","HGNC:9586","https://search.clinicalgenome.org/kb/genes/HGNC:9586","nevoid basal cell carcinoma syndrome","MONDO:0007187","https://search.clinicalgenome.org/kb/conditions/MONDO:0007187","Autosomal dominant inheritance","","","","","limited evidence (10/12/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d189ca00-ba80-49af-9b2e-8523c8d29a44-2018-10-12T213908.660Z","Hereditary Cancer","","",""
"PTCHD1","HGNC:26392","https://search.clinicalgenome.org/kb/genes/HGNC:26392","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/28/2018)","0 - No Evidence for Triplosensitivity (02/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26392","Dosage Working Group","definitive evidence (08/14/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_05d36fe2-0026-4bbc-af4b-6d952490969b-2018-08-14T220000.000Z","Intellectual Disability and Autism","","",""
"PTCHD1","HGNC:26392","https://search.clinicalgenome.org/kb/genes/HGNC:26392","autism, susceptibility to, X-linked 4","MONDO:0010440","https://search.clinicalgenome.org/kb/conditions/MONDO:0010440","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/28/2018)","0 - No Evidence for Triplosensitivity (02/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26392","Dosage Working Group","","","","","",""
"PTEN","HGNC:9588","https://search.clinicalgenome.org/kb/genes/HGNC:9588","PTEN hamartoma tumor syndrome","MONDO:0017623","https://search.clinicalgenome.org/kb/conditions/MONDO:0017623","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/24/2020)","0 - No Evidence for Triplosensitivity (06/24/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9588","Dosage Working Group","definitive evidence (04/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e9e89c0-8d1b-4276-bd6f-90c7b7190ffb-2024-04-05T170000.000Z","Hereditary Cancer","Strong Actionability (03/11/2019) | Moderate Actionability (09/09/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC025 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC025"," | "
"PTEN","HGNC:9588","https://search.clinicalgenome.org/kb/genes/HGNC:9588","multiple exostoses with spastic tetraparesis","MONDO:0008020","https://search.clinicalgenome.org/kb/conditions/MONDO:0008020","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/24/2020)","0 - No Evidence for Triplosensitivity (06/24/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9588","Dosage Working Group","","","","Strong Actionability (03/11/2019) | Moderate Actionability (09/09/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC025 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC025"," | "
"PTGS1","HGNC:9604","https://search.clinicalgenome.org/kb/genes/HGNC:9604","platelet-type bleeding disorder 12","MONDO:0011588","https://search.clinicalgenome.org/kb/conditions/MONDO:0011588","Semidominant inheritance","","","","","limited evidence (02/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d979e26e-bf9b-4f6a-a37c-2df0f2d35129-2023-02-01T170000.000Z","Hemostasis Thrombosis","","",""
"PTH1R","HGNC:9608","https://search.clinicalgenome.org/kb/genes/HGNC:9608","primary failure of tooth eruption","MONDO:0007434","https://search.clinicalgenome.org/kb/conditions/MONDO:0007434","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/28/2024)","0 - No Evidence for Triplosensitivity (06/28/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9608","Dosage Working Group","","","","","",""
"PTHLH","HGNC:9607","https://search.clinicalgenome.org/kb/genes/HGNC:9607","brachydactyly type E2","MONDO:0013244","https://search.clinicalgenome.org/kb/conditions/MONDO:0013244","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/25/2023)","1 - Little Evidence for Triplosensitivity (01/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9607","Dosage Working Group","","","","","",""
"PTHLH","HGNC:9607","https://search.clinicalgenome.org/kb/genes/HGNC:9607","mesomelic dysplasia","MONDO:0023599","https://search.clinicalgenome.org/kb/conditions/MONDO:0023599","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/25/2023)","1 - Little Evidence for Triplosensitivity (01/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9607","Dosage Working Group","","","","","",""
"PTPN11","HGNC:9644","https://search.clinicalgenome.org/kb/genes/HGNC:9644","Noonan syndrome with multiple lentigines","MONDO:0007893","https://search.clinicalgenome.org/kb/conditions/MONDO:0007893","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/08/2020)","0 - No Evidence for Triplosensitivity (09/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9644","Dosage Working Group","definitive evidence (07/25/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e6c41f3b-c2d1-4d66-a1a3-a5beaa304578-2018-07-25T160000.000Z","RASopathy","Limited Actionability (03/02/2021) | Limited Actionability (03/02/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1023 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1023"," | "
"PTPN11","HGNC:9644","https://search.clinicalgenome.org/kb/genes/HGNC:9644","cardiofaciocutaneous syndrome","MONDO:0015280","https://search.clinicalgenome.org/kb/conditions/MONDO:0015280","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/08/2020)","0 - No Evidence for Triplosensitivity (09/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9644","Dosage Working Group","disputing (05/30/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1a2133e-4ce8-45b7-87da-1c52990d3890-2018-05-30T160000.000Z","RASopathy","","",""
"PTPN11","HGNC:9644","https://search.clinicalgenome.org/kb/genes/HGNC:9644","Costello syndrome","MONDO:0009026","https://search.clinicalgenome.org/kb/conditions/MONDO:0009026","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/08/2020)","0 - No Evidence for Triplosensitivity (09/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9644","Dosage Working Group","disputing (05/31/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72fca24b-243b-49de-9ceb-ae76e12f60a8-2018-05-31T160000.000Z","RASopathy","","",""
"PTPN11","HGNC:9644","https://search.clinicalgenome.org/kb/genes/HGNC:9644","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/08/2020)","0 - No Evidence for Triplosensitivity (09/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9644","Dosage Working Group","definitive evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2bb08565-4669-4633-b6ed-c04e2a431cf9-2018-07-24T160000.000Z","RASopathy","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"PTPN11","HGNC:9644","https://search.clinicalgenome.org/kb/genes/HGNC:9644","LEOPARD syndrome 2","MONDO:0012691","https://search.clinicalgenome.org/kb/conditions/MONDO:0012691","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/08/2020)","0 - No Evidence for Triplosensitivity (09/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9644","Dosage Working Group","","","","Limited Actionability (03/02/2021) | Limited Actionability (03/02/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1023 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1023"," | "
"PTPN11","HGNC:9644","https://search.clinicalgenome.org/kb/genes/HGNC:9644","LEOPARD syndrome 3","MONDO:0013380","https://search.clinicalgenome.org/kb/conditions/MONDO:0013380","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/08/2020)","0 - No Evidence for Triplosensitivity (09/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9644","Dosage Working Group","","","","Limited Actionability (03/02/2021) | Limited Actionability (03/02/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1023 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1023"," | "
"PTPN11","HGNC:9644","https://search.clinicalgenome.org/kb/genes/HGNC:9644","LEOPARD syndrome 1","MONDO:0100082","https://search.clinicalgenome.org/kb/conditions/MONDO:0100082","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/08/2020)","0 - No Evidence for Triplosensitivity (09/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9644","Dosage Working Group","","","","Limited Actionability (03/02/2021) | Limited Actionability (03/02/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1023 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1023"," | "
"PTPN11","HGNC:9644","https://search.clinicalgenome.org/kb/genes/HGNC:9644","Noonan syndrome 1","MONDO:0008104","https://search.clinicalgenome.org/kb/conditions/MONDO:0008104","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/08/2020)","0 - No Evidence for Triplosensitivity (09/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9644","Dosage Working Group","","","","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"PTPN11","HGNC:9644","https://search.clinicalgenome.org/kb/genes/HGNC:9644","metachondromatosis","MONDO:0007979","https://search.clinicalgenome.org/kb/conditions/MONDO:0007979","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/08/2020)","0 - No Evidence for Triplosensitivity (09/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9644","Dosage Working Group","","","","","",""
"PTPRC","HGNC:9666","https://search.clinicalgenome.org/kb/genes/HGNC:9666","immunodeficiency 104","MONDO:0012163","https://search.clinicalgenome.org/kb/conditions/MONDO:0012163","Autosomal recessive inheritance","","","","","definitive evidence (12/22/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4b09bbc-c749-45be-9f2a-1a54813b2906-2021-12-22T205504.201Z","SCID-CID","","",""
"PTPRJ","HGNC:9673","https://search.clinicalgenome.org/kb/genes/HGNC:9673","hereditary nonpolyposis colon cancer","MONDO:0018630","https://search.clinicalgenome.org/kb/conditions/MONDO:0018630","Autosomal dominant inheritance","","","","","limited evidence (10/12/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_051bd795-fea1-4d6d-8947-348b7f0be80a-2018-10-12T210742.630Z","Hereditary Cancer","","",""
"PTPRJ","HGNC:9673","https://search.clinicalgenome.org/kb/genes/HGNC:9673","thrombocytopenia 10","MONDO:0957578","https://search.clinicalgenome.org/kb/conditions/MONDO:0957578","Autosomal recessive inheritance","","","","","limited evidence (12/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40b80e00-6e72-405a-af07-f050dae7dac9-2024-12-18T170000.000Z","Hemostasis Thrombosis","","",""
"PTPRQ","HGNC:9679","https://search.clinicalgenome.org/kb/genes/HGNC:9679","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9679","Dosage Working Group","definitive evidence (02/23/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8404","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"PTPRQ","HGNC:9679","https://search.clinicalgenome.org/kb/genes/HGNC:9679","autosomal recessive nonsyndromic hearing loss 84A","MONDO:0013249","https://search.clinicalgenome.org/kb/conditions/MONDO:0013249","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9679","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"PTPRQ","HGNC:9679","https://search.clinicalgenome.org/kb/genes/HGNC:9679","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9679","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"PTPRQ","HGNC:9679","https://search.clinicalgenome.org/kb/genes/HGNC:9679","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9679","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"PTS","HGNC:9689","https://search.clinicalgenome.org/kb/genes/HGNC:9689","BH4-deficient hyperphenylalaninemia A","MONDO:0009863","https://search.clinicalgenome.org/kb/conditions/MONDO:0009863","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9689","Dosage Working Group","definitive evidence (12/22/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3f9b683-bd6b-4566-9341-ddd7195b5108-2017-12-22T170000.000Z","Aminoacidopathy","","",""
"PUF60","HGNC:17042","https://search.clinicalgenome.org/kb/genes/HGNC:17042","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/09/2024)","0 - No Evidence for Triplosensitivity (01/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17042","Dosage Working Group","definitive evidence (12/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_661c140f-11a3-46f8-b001-14a2314582e4-2021-12-15T170000.000Z","Intellectual Disability and Autism","","",""
"PURA","HGNC:9701","https://search.clinicalgenome.org/kb/genes/HGNC:9701","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/26/2025)","0 - No Evidence for Triplosensitivity (03/26/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9701","Dosage Working Group","definitive evidence (12/18/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6819633c-e488-4856-8dec-3981cd14db9b-2018-12-18T170000.000Z","Epilepsy","","",""
"PUS1","HGNC:15508","https://search.clinicalgenome.org/kb/genes/HGNC:15508","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (08/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_821f6d18-025f-477b-8ba2-b4aad502670c-2022-08-01T160000.000Z","Mitochondrial Diseases","","",""
"PXDN","HGNC:14966","https://search.clinicalgenome.org/kb/genes/HGNC:14966","anterior segment dysgenesis 7","MONDO:0010015","https://search.clinicalgenome.org/kb/conditions/MONDO:0010015","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14966","Dosage Working Group","definitive evidence (06/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_905b07f8-ed15-4c25-9579-edac5521c699-2023-06-15T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"PYCR1","HGNC:9721","https://search.clinicalgenome.org/kb/genes/HGNC:9721","autosomal recessive cutis laxa type 2B","MONDO:0013051","https://search.clinicalgenome.org/kb/conditions/MONDO:0013051","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9721","Dosage Working Group","definitive evidence (05/21/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca242cd8-1f57-4c7b-ba97-5ec0c97b425b-2020-05-21T191607.864Z","Aminoacidopathy","","",""
"PYGL","HGNC:9725","https://search.clinicalgenome.org/kb/genes/HGNC:9725","glycogen storage disease VI","MONDO:0009294","https://search.clinicalgenome.org/kb/conditions/MONDO:0009294","Autosomal recessive inheritance","","","","","definitive evidence (09/27/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_268f120a-bd36-4de2-9f85-871a307f44af-2024-09-27T160000.000Z","General Inborn Errors of Metabolism","","",""
"PYGM","HGNC:9726","https://search.clinicalgenome.org/kb/genes/HGNC:9726","glycogen storage disease V","MONDO:0009293","https://search.clinicalgenome.org/kb/conditions/MONDO:0009293","Autosomal recessive inheritance","","","","","definitive evidence (02/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_768b5cdf-cceb-4789-bd07-f96eab0c7b1a-2025-02-28T170000.000Z","General Inborn Errors of Metabolism","Moderate Actionability (03/06/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC121",""
"PYROXD1","HGNC:26162","https://search.clinicalgenome.org/kb/genes/HGNC:26162","myofibrillar myopathy 8","MONDO:0014993","https://search.clinicalgenome.org/kb/conditions/MONDO:0014993","Autosomal recessive inheritance","","","","","definitive evidence (11/05/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44f4197c-2004-4d10-81dc-e61190eba909-2019-11-05T134731.947Z","Congenital Myopathies","","",""
"QARS1","HGNC:9751","https://search.clinicalgenome.org/kb/genes/HGNC:9751","diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome","MONDO:0014335","https://search.clinicalgenome.org/kb/conditions/MONDO:0014335","Autosomal recessive inheritance","","","","","definitive evidence (05/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6b0cbc0e-c97c-4f6d-a351-0ac23a4ba8a5-2020-05-26T150033.131Z","Brain Malformations","","",""
"QDPR","HGNC:9752","https://search.clinicalgenome.org/kb/genes/HGNC:9752","dihydropteridine reductase deficiency","MONDO:0009862","https://search.clinicalgenome.org/kb/conditions/MONDO:0009862","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9752","Dosage Working Group","definitive evidence (06/18/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3cd45f13-9412-4439-9b68-cf2e3d02a646-2018-06-18T160000.000Z","Aminoacidopathy","","",""
"QRICH1","HGNC:24713","https://search.clinicalgenome.org/kb/genes/HGNC:24713","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/15/2023)","0 - No Evidence for Triplosensitivity (11/15/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24713","Dosage Working Group","definitive evidence (06/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ccc6c6f-da19-4e86-88a8-5e7a1794efae-2022-06-15T100000.000Z","Intellectual Disability and Autism","","",""
"QRICH1","HGNC:24713","https://search.clinicalgenome.org/kb/genes/HGNC:24713","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/15/2023)","0 - No Evidence for Triplosensitivity (11/15/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24713","Dosage Working Group","","","","","",""
"RAB18","HGNC:14244","https://search.clinicalgenome.org/kb/genes/HGNC:14244","Warburg micro syndrome","MONDO:0016649","https://search.clinicalgenome.org/kb/conditions/MONDO:0016649","Autosomal recessive inheritance","","","","","moderate evidence (09/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4f09a474-8789-4f05-8f7e-611698d30936-2023-09-30T160000.000Z","Brain Malformations","","",""
"RAB23","HGNC:14263","https://search.clinicalgenome.org/kb/genes/HGNC:14263","RAB23-related Carpenter syndrome","MONDO:0008710","https://search.clinicalgenome.org/kb/conditions/MONDO:0008710","Autosomal recessive inheritance","","","","","definitive evidence (04/22/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_46756b21-4bb5-4384-a42c-cf10c76e98c8-2021-04-22T160000.000Z","Craniofacial Malformations","","",""
"RAB27A","HGNC:9766","https://search.clinicalgenome.org/kb/genes/HGNC:9766","Griscelli syndrome type 2","MONDO:0011872","https://search.clinicalgenome.org/kb/conditions/MONDO:0011872","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9766","Dosage Working Group","definitive evidence (10/31/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_85b7d8d2-1d22-44f3-9b24-580b42d69300-2023-10-31T040000.000Z","Syndromic Disorders","","",""
"RAB28","HGNC:9768","https://search.clinicalgenome.org/kb/genes/HGNC:9768","RAB28-related retinopathy","MONDO:0100448","https://search.clinicalgenome.org/kb/conditions/MONDO:0100448","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9768","Dosage Working Group","definitive evidence (11/04/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8e3c7bd-3ee5-404d-98b0-75af6ec257d1-2021-11-04T160000.000Z","Retina","","",""
"RAB28","HGNC:9768","https://search.clinicalgenome.org/kb/genes/HGNC:9768","cone-rod dystrophy 18","MONDO:0014153","https://search.clinicalgenome.org/kb/conditions/MONDO:0014153","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9768","Dosage Working Group","","","","","",""
"RAB39B","HGNC:16499","https://search.clinicalgenome.org/kb/genes/HGNC:16499","early-onset parkinsonism-intellectual disability syndrome","MONDO:0010709","https://search.clinicalgenome.org/kb/conditions/MONDO:0010709","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/29/2020)","0 - No Evidence for Triplosensitivity (05/29/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16499","Dosage Working Group","definitive evidence (06/04/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01dc73a8-fbd2-4081-95cd-ab7cb59236d7-2018-06-04T100000.000Z","Intellectual Disability and Autism","","",""
"RAB39B","HGNC:16499","https://search.clinicalgenome.org/kb/genes/HGNC:16499","intellectual disability, X-linked 72","MONDO:0010289","https://search.clinicalgenome.org/kb/conditions/MONDO:0010289","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/29/2020)","0 - No Evidence for Triplosensitivity (05/29/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16499","Dosage Working Group","","","","","",""
"RAB3GAP1","HGNC:17063","https://search.clinicalgenome.org/kb/genes/HGNC:17063","Warburg micro syndrome","MONDO:0016649","https://search.clinicalgenome.org/kb/conditions/MONDO:0016649","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17063","Dosage Working Group","definitive evidence (05/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1e4a47e-757a-442f-b82f-2ddfd69d0854-2020-05-26T160000.000Z","Brain Malformations","","",""
"RAB3GAP1","HGNC:17063","https://search.clinicalgenome.org/kb/genes/HGNC:17063","Warburg micro syndrome 1","MONDO:0010822","https://search.clinicalgenome.org/kb/conditions/MONDO:0010822","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17063","Dosage Working Group","","","","","",""
"RAB3GAP2","HGNC:17168","https://search.clinicalgenome.org/kb/genes/HGNC:17168","Warburg micro syndrome","MONDO:0016649","https://search.clinicalgenome.org/kb/conditions/MONDO:0016649","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17168","Dosage Working Group","definitive evidence (11/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a322fa3e-2985-4f60-9b4b-87f333cf9431-2023-11-28T200000.000Z","Brain Malformations","","",""
"RAB3GAP2","HGNC:17168","https://search.clinicalgenome.org/kb/genes/HGNC:17168","multiple congenital anomalies/dysmorphic syndrome-intellectual disability","MONDO:0015159","https://search.clinicalgenome.org/kb/conditions/MONDO:0015159","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17168","Dosage Working Group","","","","","",""
"RAB40AL","HGNC:25410","https://search.clinicalgenome.org/kb/genes/HGNC:25410","X-linked syndromic intellectual disability","MONDO:0020119","https://search.clinicalgenome.org/kb/conditions/MONDO:0020119","X-linked inheritance","","","","","refuting evidence (06/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_126405bb-ecf5-49a3-b7d5-bb1b45a65e26-2021-06-15T160000.000Z","Intellectual Disability and Autism","","",""
"RAB7A","HGNC:9788","https://search.clinicalgenome.org/kb/genes/HGNC:9788","Charcot-Marie-Tooth disease type 2","MONDO:0018993","https://search.clinicalgenome.org/kb/conditions/MONDO:0018993","Autosomal dominant inheritance","","","","","definitive evidence (02/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_222dbfa6-db75-42a0-bab6-338b46a316c3-2022-02-10T021034.172Z","Charcot-Marie-Tooth","","",""
"RAC1","HGNC:9801","https://search.clinicalgenome.org/kb/genes/HGNC:9801","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","","","","","definitive evidence (09/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da151217-aee4-4a00-9ae1-d8b610eb216e-2023-09-20T160000.000Z","Intellectual Disability and Autism","","",""
"RAC2","HGNC:9802","https://search.clinicalgenome.org/kb/genes/HGNC:9802","immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia","MONDO:0033555","https://search.clinicalgenome.org/kb/conditions/MONDO:0033555","Autosomal recessive inheritance","","","","","moderate evidence (10/19/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8191c879-cc6a-4c5e-9ceb-7101aa7cbc15-2021-10-19T154613.500Z","Antibody Deficiencies GCEP","","",""
"RAC2","HGNC:9802","https://search.clinicalgenome.org/kb/genes/HGNC:9802","immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia","MONDO:0033554","https://search.clinicalgenome.org/kb/conditions/MONDO:0033554","Autosomal dominant inheritance","","","","","strong evidence (10/19/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6c1e0b1-de02-4899-9825-acc950bedcc3-2021-10-19T155522.241Z","Antibody Deficiencies GCEP","","",""
"RAC2","HGNC:9802","https://search.clinicalgenome.org/kb/genes/HGNC:9802","neutrophil immunodeficiency syndrome","MONDO:0011988","https://search.clinicalgenome.org/kb/conditions/MONDO:0011988","Autosomal dominant inheritance","","","","","moderate evidence (12/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f415e195-889f-4812-becd-5b3e7fe6b84f-2021-12-21T135017.284Z","Antibody Deficiencies GCEP","","",""
"RAD21","HGNC:9811","https://search.clinicalgenome.org/kb/genes/HGNC:9811","Cornelia de Lange syndrome","MONDO:0016033","https://search.clinicalgenome.org/kb/conditions/MONDO:0016033","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/08/2022)","0 - No Evidence for Triplosensitivity (03/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9811","Dosage Working Group","definitive evidence (01/08/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30ad5023-6c68-42ab-b8ea-a601a134eaf6-2020-01-08T170000.000Z","Intellectual Disability and Autism","","",""
"RAD50","HGNC:9816","https://search.clinicalgenome.org/kb/genes/HGNC:9816","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (03/12/2025)","0 - No Evidence for Triplosensitivity (03/12/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9816","Dosage Working Group","refuting evidence (03/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f16b58f-c6b5-45ef-bb4a-a9fa5fe8ac35-2023-03-14T170000.000Z","Hereditary Cancer","","",""
"RAD50","HGNC:9816","https://search.clinicalgenome.org/kb/genes/HGNC:9816","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (03/12/2025)","0 - No Evidence for Triplosensitivity (03/12/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9816","Dosage Working Group","refuting evidence (02/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef809b24-cdc2-4d5c-a1ab-5a9c2f35da54-2024-02-23T180000.000Z","Hereditary Cancer","","",""
"RAD51B","HGNC:9822","https://search.clinicalgenome.org/kb/genes/HGNC:9822","breast-ovarian cancer, familial, susceptibility to, 4","MONDO:0013669","https://search.clinicalgenome.org/kb/conditions/MONDO:0013669","N/A","1 - Little Evidence for Haploinsufficiency (06/19/2025)","0 - No Evidence for Triplosensitivity (06/19/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9822","Dosage Working Group","","","","","",""
"RAD51C","HGNC:9820","https://search.clinicalgenome.org/kb/genes/HGNC:9820","RAD51C-related cancer predisposition","MONDO:0700273","https://search.clinicalgenome.org/kb/conditions/MONDO:0700273","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/08/2020)","0 - No Evidence for Triplosensitivity (07/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9820","Dosage Working Group","definitive evidence (08/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31cb27be-dd32-4bb7-86bd-43c4b1eabaf5-2024-08-29T170000.000Z","Hereditary Cancer","","",""
"RAD51C","HGNC:9820","https://search.clinicalgenome.org/kb/genes/HGNC:9820","Fanconi anemia complementation group O","MONDO:0013248","https://search.clinicalgenome.org/kb/conditions/MONDO:0013248","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/08/2020)","0 - No Evidence for Triplosensitivity (07/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9820","Dosage Working Group","limited evidence (12/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea7ea36f-955c-4478-b5f6-12ff0a0dbf0b-2023-12-20T180000.000Z","Hereditary Cancer","","",""
"RAD51C","HGNC:9820","https://search.clinicalgenome.org/kb/genes/HGNC:9820","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/08/2020)","0 - No Evidence for Triplosensitivity (07/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9820","Dosage Working Group","","","","Assertion Pending (03/17/2017) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/04/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC136 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC136"," | "
"RAD51C","HGNC:9820","https://search.clinicalgenome.org/kb/genes/HGNC:9820","breast-ovarian cancer, familial, susceptibility to, 3","MONDO:0013253","https://search.clinicalgenome.org/kb/conditions/MONDO:0013253","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/08/2020)","0 - No Evidence for Triplosensitivity (07/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9820","Dosage Working Group","","","","Assertion Pending (03/17/2017) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/04/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC136 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC136"," | "
"RAD51D","HGNC:9823","https://search.clinicalgenome.org/kb/genes/HGNC:9823","RAD51D-related cancer predisposition","MONDO:0700274","https://search.clinicalgenome.org/kb/conditions/MONDO:0700274","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/09/2024)","0 - No Evidence for Triplosensitivity (01/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9823","Dosage Working Group","definitive evidence (08/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d2e5a83-03cb-4483-915d-6ac32a84dc0a-2024-08-29T170000.000Z","Hereditary Cancer","","",""
"RAD51D","HGNC:9823","https://search.clinicalgenome.org/kb/genes/HGNC:9823","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/09/2024)","0 - No Evidence for Triplosensitivity (01/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9823","Dosage Working Group","","","","Assertion Pending (03/17/2017) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/04/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC136 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC136"," | "
"RAD51D","HGNC:9823","https://search.clinicalgenome.org/kb/genes/HGNC:9823","breast-ovarian cancer, familial, susceptibility to, 4","MONDO:0013669","https://search.clinicalgenome.org/kb/conditions/MONDO:0013669","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/09/2024)","0 - No Evidence for Triplosensitivity (01/09/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9823","Dosage Working Group","","","","Assertion Pending (03/17/2017) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/04/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC136 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC136"," | "
"RAF1","HGNC:9829","https://search.clinicalgenome.org/kb/genes/HGNC:9829","Noonan syndrome with multiple lentigines","MONDO:0007893","https://search.clinicalgenome.org/kb/conditions/MONDO:0007893","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/13/2018)","0 - No Evidence for Triplosensitivity (09/13/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9829","Dosage Working Group","limited evidence (07/25/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cda0bf05-836b-40bb-99f5-e1dbfd0f6741-2018-07-25T160000.000Z","RASopathy","","",""
"RAF1","HGNC:9829","https://search.clinicalgenome.org/kb/genes/HGNC:9829","Costello syndrome","MONDO:0009026","https://search.clinicalgenome.org/kb/conditions/MONDO:0009026","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/13/2018)","0 - No Evidence for Triplosensitivity (09/13/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9829","Dosage Working Group","disputing (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67081421-a4a3-4b62-88e0-4a78d19859ba-2018-07-24T160000.000Z","RASopathy","","",""
"RAF1","HGNC:9829","https://search.clinicalgenome.org/kb/genes/HGNC:9829","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/13/2018)","0 - No Evidence for Triplosensitivity (09/13/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9829","Dosage Working Group","definitive evidence (10/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_85645d27-2056-4ad3-9593-8d7739aa4121-2024-10-23T160000.000Z","RASopathy","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"RAF1","HGNC:9829","https://search.clinicalgenome.org/kb/genes/HGNC:9829","cardiofaciocutaneous syndrome","MONDO:0015280","https://search.clinicalgenome.org/kb/conditions/MONDO:0015280","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/13/2018)","0 - No Evidence for Triplosensitivity (09/13/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9829","Dosage Working Group","disputing (05/31/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1e7c802-14d7-435c-b396-637b728a3ae2-2018-05-31T160000.000Z","RASopathy","","",""
"RAF1","HGNC:9829","https://search.clinicalgenome.org/kb/genes/HGNC:9829","Noonan syndrome 5","MONDO:0012690","https://search.clinicalgenome.org/kb/conditions/MONDO:0012690","N/A","0 - No Evidence for Haploinsufficiency (09/13/2018)","0 - No Evidence for Triplosensitivity (09/13/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9829","Dosage Working Group","","","","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"RAG1","HGNC:9831","https://search.clinicalgenome.org/kb/genes/HGNC:9831","recombinase activating gene 1 deficiency","MONDO:0000572","https://search.clinicalgenome.org/kb/conditions/MONDO:0000572","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9831","Dosage Working Group","definitive evidence (06/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f08ada81-650b-4764-99e4-f3156f67cbc9-2021-06-17T160000.000Z","SCID-CID","","",""
"RAG2","HGNC:9832","https://search.clinicalgenome.org/kb/genes/HGNC:9832","recombinase activating gene 2 deficiency","MONDO:0000573","https://search.clinicalgenome.org/kb/conditions/MONDO:0000573","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9832","Dosage Working Group","definitive evidence (08/19/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4e9918ba-b94a-4526-bd99-09abef894225-2021-08-19T140520.555Z","SCID-CID","","",""
"RAG2","HGNC:9832","https://search.clinicalgenome.org/kb/genes/HGNC:9832","Omenn syndrome","MONDO:0011338","https://search.clinicalgenome.org/kb/conditions/MONDO:0011338","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9832","Dosage Working Group","","","","","",""
"RAI1","HGNC:9834","https://search.clinicalgenome.org/kb/genes/HGNC:9834","Smith-Magenis syndrome","MONDO:0008434","https://search.clinicalgenome.org/kb/conditions/MONDO:0008434","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2020)","0 - No Evidence for Triplosensitivity (10/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9834","Dosage Working Group","definitive evidence (09/04/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e576e58-debf-49c6-a86d-c599806180ff-2018-09-04T220000.000Z","Intellectual Disability and Autism","","",""
"RAI2","HGNC:9835","https://search.clinicalgenome.org/kb/genes/HGNC:9835","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (04/30/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2fca4adc-f617-4a9d-8419-957adfcb88e6-2024-04-30T160000.000Z","Congenital Heart Disease","","",""
"RALA","HGNC:9839","https://search.clinicalgenome.org/kb/genes/HGNC:9839","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (07/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ead7886-1be4-404c-977c-0f352a6906f9-2024-07-03T190000.000Z","Intellectual Disability and Autism","","",""
"RALGAPB","HGNC:29221","https://search.clinicalgenome.org/kb/genes/HGNC:29221","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (02/27/2019)","0 - No Evidence for Triplosensitivity (02/27/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29221","Dosage Working Group","","","","","",""
"RANBP2","HGNC:9848","https://search.clinicalgenome.org/kb/genes/HGNC:9848","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal dominant inheritance","","","","","limited evidence (06/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_183be314-face-471f-9643-9cc1a302636f-2021-06-30T145342.020Z","Mitochondrial Diseases","","",""
"RANBP2","HGNC:9848","https://search.clinicalgenome.org/kb/genes/HGNC:9848","familial acute necrotizing encephalopathy","MONDO:0011953","https://search.clinicalgenome.org/kb/conditions/MONDO:0011953","Autosomal dominant inheritance","","","","","moderate evidence (04/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e375774-fce0-48a2-b83d-c7814c9de23f-2024-04-02T160000.000Z","Epilepsy","","",""
"RANGRF","HGNC:17679","https://search.clinicalgenome.org/kb/genes/HGNC:17679","Brugada syndrome","MONDO:0015263","https://search.clinicalgenome.org/kb/conditions/MONDO:0015263","Autosomal dominant inheritance | Autosomal dominant inheritance","","","","","disputing (11/21/2017) | refuting evidence (10/31/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10157 | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4787123-60f0-4d54-b9f3-3e9660f029b8-2025-10-31T010000.000Z","Brugada Syndrome | Hereditary Cardiovascular Disease","","",""
"RAP1B","HGNC:9857","https://search.clinicalgenome.org/kb/genes/HGNC:9857","syndromic constitutional thrombocytopenia","MONDO:0018795","https://search.clinicalgenome.org/kb/conditions/MONDO:0018795","Autosomal dominant inheritance","","","","","limited evidence (09/28/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6140482f-8f93-47b2-9915-597da34a5975-2022-09-28T160000.000Z","Hemostasis Thrombosis","","",""
"RARB","HGNC:9865","https://search.clinicalgenome.org/kb/genes/HGNC:9865","microphthalmia, syndromic 12","MONDO:0014229","https://search.clinicalgenome.org/kb/conditions/MONDO:0014229","Autosomal dominant inheritance","","","","","definitive evidence (04/25/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8fde1ee7-8deb-49e3-a335-0c47c5e77e52-2023-04-25T160000.000Z","Syndromic Disorders","","",""
"RARS2","HGNC:21406","https://search.clinicalgenome.org/kb/genes/HGNC:21406","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/09/2015)","0 - No Evidence for Triplosensitivity (04/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21406","Dosage Working Group","definitive evidence (05/04/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1bdeaf04-f6ce-42f1-9ee0-037f1ead77fb-2022-05-04T160000.000Z","Mitochondrial Diseases","","",""
"RARS2","HGNC:21406","https://search.clinicalgenome.org/kb/genes/HGNC:21406","pontocerebellar hypoplasia type 6","MONDO:0012683","https://search.clinicalgenome.org/kb/conditions/MONDO:0012683","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (04/09/2015)","0 - No Evidence for Triplosensitivity (04/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21406","Dosage Working Group","","","","","",""
"RASA1","HGNC:9871","https://search.clinicalgenome.org/kb/genes/HGNC:9871","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/22/2020)","0 - No Evidence for Triplosensitivity (04/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9871","Dosage Working Group","disputing (06/07/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a957c2df-eeec-4bdf-b423-6f1667f66abd-2018-06-07T160000.000Z","RASopathy","","",""
"RASA1","HGNC:9871","https://search.clinicalgenome.org/kb/genes/HGNC:9871","capillary malformation-arteriovenous malformation 1","MONDO:0020783","https://search.clinicalgenome.org/kb/conditions/MONDO:0020783","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/22/2020)","0 - No Evidence for Triplosensitivity (04/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9871","Dosage Working Group","","","","","",""
"RASA2","HGNC:9872","https://search.clinicalgenome.org/kb/genes/HGNC:9872","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","","","","","limited evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9635e391-79b6-4054-824e-1c607a02cd07-2018-07-24T160000.000Z","RASopathy","","",""
"RASGRP1","HGNC:9878","https://search.clinicalgenome.org/kb/genes/HGNC:9878","immunodeficiency 64","MONDO:0032803","https://search.clinicalgenome.org/kb/conditions/MONDO:0032803","Autosomal recessive inheritance","","","","","definitive evidence (05/05/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_584ab4e0-6b83-4d91-8a7a-7d04646cd8be-2025-05-05T170000.000Z","Primary Immune Regulatory Disorders","","",""
"RASGRP2","HGNC:9879","https://search.clinicalgenome.org/kb/genes/HGNC:9879","platelet-type bleeding disorder 18","MONDO:0014386","https://search.clinicalgenome.org/kb/conditions/MONDO:0014386","Autosomal recessive inheritance","","","","","definitive evidence (09/27/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4401e99-145a-4b93-aa73-6854b8037895-2019-09-27T135300.165Z","Hemostasis Thrombosis","","",""
"RAX","HGNC:18662","https://search.clinicalgenome.org/kb/genes/HGNC:18662","isolated microphthalmia 3","MONDO:0012604","https://search.clinicalgenome.org/kb/conditions/MONDO:0012604","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18662","Dosage Working Group","","","","","",""
"RB1","HGNC:9884","https://search.clinicalgenome.org/kb/genes/HGNC:9884","retinoblastoma","MONDO:0008380","https://search.clinicalgenome.org/kb/conditions/MONDO:0008380","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/09/2021)","0 - No Evidence for Triplosensitivity (03/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9884","Dosage Working Group","definitive evidence (07/30/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8c79621-7ace-4c0c-874e-a315a2e6c872-2020-07-30T213929.219Z","Hereditary Cancer","Has Insufficient Evidence for Actionability Based on Early Rule-out (04/30/2018) | Strong Actionability (04/30/2018)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC001 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC001"," | "
"RBBP8","HGNC:9891","https://search.clinicalgenome.org/kb/genes/HGNC:9891","Seckel syndrome 2","MONDO:0011715","https://search.clinicalgenome.org/kb/conditions/MONDO:0011715","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9891","Dosage Working Group","","","","","",""
"RBFOX2","HGNC:9906","https://search.clinicalgenome.org/kb/genes/HGNC:9906","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","strong evidence (05/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed2c6ea3-402b-482d-ba7e-24e8cf2fb681-2024-05-14T160000.000Z","Congenital Heart Disease","","",""
"RBFOX3","HGNC:27097","https://search.clinicalgenome.org/kb/genes/HGNC:27097","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","","","","","disputing (11/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_010465d0-daa4-40b7-a5df-ca91113db47e-2024-11-19T170000.000Z","Epilepsy","","",""
"RBM20","HGNC:27424","https://search.clinicalgenome.org/kb/genes/HGNC:27424","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","definitive evidence (08/20/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e123751-078a-4d30-9f83-847119982342-2020-08-20T160000.000Z","Dilated Cardiomyopathy","","",""
"RBM20","HGNC:27424","https://search.clinicalgenome.org/kb/genes/HGNC:27424","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","limited evidence (10/26/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_35dd9f5a-7575-4899-aadf-3e1234a44f2d-2023-10-26T160000.000Z","Hereditary Cardiovascular Disease","","",""
"RBM8A","HGNC:9905","https://search.clinicalgenome.org/kb/genes/HGNC:9905","thrombocytopenia-absent radius syndrome","MONDO:0010121","https://search.clinicalgenome.org/kb/conditions/MONDO:0010121","Autosomal recessive inheritance","","","","","definitive evidence (05/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_56c276a7-3068-48db-9baa-6f178eb9c3a7-2020-05-15T160000.000Z","Hemostasis Thrombosis","","",""
"RBP3","HGNC:9921","https://search.clinicalgenome.org/kb/genes/HGNC:9921","retinitis pigmentosa 66","MONDO:0014093","https://search.clinicalgenome.org/kb/conditions/MONDO:0014093","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9921","Dosage Working Group","","","","","",""
"RCBTB1","HGNC:18243","https://search.clinicalgenome.org/kb/genes/HGNC:18243","RCBTB1-related retinopathy","MONDO:0014955","https://search.clinicalgenome.org/kb/conditions/MONDO:0014955","Autosomal recessive inheritance","","","","","definitive evidence (06/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f356649e-e6d6-4ab6-9e78-3774404794ff-2022-06-02T160000.000Z","Retina","","",""
"RD3","HGNC:19689","https://search.clinicalgenome.org/kb/genes/HGNC:19689","RD3-related retinopathy","MONDO:0700235","https://search.clinicalgenome.org/kb/conditions/MONDO:0700235","Autosomal recessive inheritance","","","","","definitive evidence (01/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67c894eb-2c16-4598-8e92-8345e562d91c-2022-01-06T050000.000Z","Retina","","",""
"RDH12","HGNC:19977","https://search.clinicalgenome.org/kb/genes/HGNC:19977","RDH12-related recessive retinopathy","MONDO:0800099","https://search.clinicalgenome.org/kb/conditions/MONDO:0800099","Autosomal recessive inheritance","","","","","definitive evidence (03/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd51db77-53c3-4f89-9a4c-c92bbe182d7e-2022-03-03T170000.000Z","Retina","","",""
"RDH12","HGNC:19977","https://search.clinicalgenome.org/kb/genes/HGNC:19977","RDH12-related dominant retinopathy","MONDO:0800100","https://search.clinicalgenome.org/kb/conditions/MONDO:0800100","Autosomal dominant inheritance","","","","","moderate evidence (03/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_958d5e41-ea0c-4497-af02-56d6ed3cd341-2023-03-02T170000.000Z","Retina","","",""
"RDH5","HGNC:9940","https://search.clinicalgenome.org/kb/genes/HGNC:9940","RDH5-related retinopathy","MONDO:0100443","https://search.clinicalgenome.org/kb/conditions/MONDO:0100443","Autosomal recessive inheritance","","","","","definitive evidence (09/02/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5399fd62-ca69-4665-b3ba-c15ceefbf6d9-2021-09-02T160000.000Z","Retina","","",""
"RDX","HGNC:9944","https://search.clinicalgenome.org/kb/genes/HGNC:9944","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9944","Dosage Working Group","definitive evidence (01/02/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2cf494e5-7335-4e2a-8b50-75cf8412a9d0-2018-01-02T170000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"RDX","HGNC:9944","https://search.clinicalgenome.org/kb/genes/HGNC:9944","autosomal recessive nonsyndromic hearing loss 24","MONDO:0012602","https://search.clinicalgenome.org/kb/conditions/MONDO:0012602","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9944","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"RDX","HGNC:9944","https://search.clinicalgenome.org/kb/genes/HGNC:9944","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9944","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"RDX","HGNC:9944","https://search.clinicalgenome.org/kb/genes/HGNC:9944","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9944","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"RECQL","HGNC:9948","https://search.clinicalgenome.org/kb/genes/HGNC:9948","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/11/2024)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9948","Dosage Working Group","no known disease relationship (09/14/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8701","Breast/Ovarian Cancer","","",""
"RECQL","HGNC:9948","https://search.clinicalgenome.org/kb/genes/HGNC:9948","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/11/2024)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9948","Dosage Working Group","disputing (03/13/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_777b2a5c-459f-4eee-8a6d-e8bf15b88aca-2023-03-13T170000.000Z","Hereditary Cancer","","",""
"RECQL4","HGNC:9949","https://search.clinicalgenome.org/kb/genes/HGNC:9949","Rothmund-Thomson syndrome","MONDO:0010002","https://search.clinicalgenome.org/kb/conditions/MONDO:0010002","Autosomal recessive inheritance","","","","","definitive evidence (10/11/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbf00cfa-ac36-4eb0-94c4-69b05014e0f6-2018-10-11T170000.000Z","Hereditary Cancer","","",""
"RECQL4","HGNC:9949","https://search.clinicalgenome.org/kb/genes/HGNC:9949","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","no known disease relationship (02/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_542917be-3b90-477b-a427-3f8ee0550dea-2025-02-10T170000.000Z","Congenital Heart Disease","","",""
"REEP6","HGNC:30078","https://search.clinicalgenome.org/kb/genes/HGNC:30078","inherited retinal dystrophy","MONDO:0019118","https://search.clinicalgenome.org/kb/conditions/MONDO:0019118","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/04/2025)","0 - No Evidence for Triplosensitivity (08/04/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30078","Dosage Working Group","definitive evidence (07/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b46e1df4-e37a-4b59-af69-d388c6dbc6a1-2024-07-11T160000.000Z","Retina","","",""
"REL","HGNC:9954","https://search.clinicalgenome.org/kb/genes/HGNC:9954","immunodeficiency 92","MONDO:0030498","https://search.clinicalgenome.org/kb/conditions/MONDO:0030498","Autosomal recessive inheritance","","","","","moderate evidence (03/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed422cfb-0cf3-44ec-8f36-5faace1a577d-2023-03-16T160000.000Z","SCID-CID","","",""
"RELA","HGNC:9955","https://search.clinicalgenome.org/kb/genes/HGNC:9955","combined immunodeficiency due to RELA haploinsufficiency","MONDO:0035694","https://search.clinicalgenome.org/kb/conditions/MONDO:0035694","Autosomal dominant inheritance","","","","","definitive evidence (09/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e0145f5-c001-420c-9591-c6583862a7ca-2023-09-21T160000.000Z","SCID-CID","","",""
"RELB","HGNC:9956","https://search.clinicalgenome.org/kb/genes/HGNC:9956","immunodeficiency 53","MONDO:0054696","https://search.clinicalgenome.org/kb/conditions/MONDO:0054696","Autosomal recessive inheritance","","","","","limited evidence (03/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eb3415ab-4fa5-4f53-8ae4-7b4c620a3391-2023-03-30T170000.000Z","SCID-CID","","",""
"RELN","HGNC:9957","https://search.clinicalgenome.org/kb/genes/HGNC:9957","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (12/14/2023)","0 - No Evidence for Triplosensitivity (12/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9957","Dosage Working Group","disputing (07/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c654081c-5abd-4f86-a3f7-90d7f117b93d-2023-07-19T060000.000Z","Intellectual Disability and Autism","","",""
"RELN","HGNC:9957","https://search.clinicalgenome.org/kb/genes/HGNC:9957","lissencephaly with cerebellar hypoplasia","MONDO:0019450","https://search.clinicalgenome.org/kb/conditions/MONDO:0019450","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (12/14/2023)","0 - No Evidence for Triplosensitivity (12/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9957","Dosage Working Group","definitive evidence (12/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28da7e7d-fa9c-4f7a-8962-ece6f572adc7-2023-12-04T200000.000Z","Brain Malformations","","",""
"REN","HGNC:9958","https://search.clinicalgenome.org/kb/genes/HGNC:9958","renal tubular dysgenesis of genetic origin","MONDO:0009970","https://search.clinicalgenome.org/kb/conditions/MONDO:0009970","Autosomal recessive inheritance","","","","","definitive evidence (10/28/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9a9a43c4-771a-4a73-b66f-dd99ab76aeec-2020-10-28T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"REN","HGNC:9958","https://search.clinicalgenome.org/kb/genes/HGNC:9958","familial juvenile hyperuricemic nephropathy type 2","MONDO:0013128","https://search.clinicalgenome.org/kb/conditions/MONDO:0013128","Autosomal dominant inheritance","","","","","definitive evidence (10/28/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cae92b57-f5b9-4000-9a42-72161f2d7dd3-2020-10-28T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"RERE","HGNC:9965","https://search.clinicalgenome.org/kb/genes/HGNC:9965","complex neurodevelopmental disorder with or without congenital anomalies","MONDO:0100465","https://search.clinicalgenome.org/kb/conditions/MONDO:0100465","Autosomal dominant inheritance","","","","","definitive evidence (03/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdf18409-7db7-4934-9bc7-99eea21d9058-2023-03-21T160000.000Z","Intellectual Disability and Autism","","",""
"RET","HGNC:9967","https://search.clinicalgenome.org/kb/genes/HGNC:9967","multiple endocrine neoplasia type 2A","MONDO:0008234","https://search.clinicalgenome.org/kb/conditions/MONDO:0008234","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","0 - No Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9967","Dosage Working Group","definitive evidence (05/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5f3c875-2438-4bfe-b785-b86d7d3e6507-2020-05-14T005952.060Z","Hereditary Cancer","Strong Actionability (03/06/2019) | Strong Actionability (03/06/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC080 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC080"," | "
"RET","HGNC:9967","https://search.clinicalgenome.org/kb/genes/HGNC:9967","multiple endocrine neoplasia type 2B","MONDO:0008082","https://search.clinicalgenome.org/kb/conditions/MONDO:0008082","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","0 - No Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9967","Dosage Working Group","definitive evidence (05/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e4425f0-0900-43c3-aac4-5b37554be386-2020-05-14T010345.543Z","Hereditary Cancer","Strong Actionability (03/06/2019) | Has Insufficient Evidence for Actionability Based on Early Rule-out (03/06/2019)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC081 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC081"," | "
"RET","HGNC:9967","https://search.clinicalgenome.org/kb/genes/HGNC:9967","familial medullary thyroid carcinoma","MONDO:0007958","https://search.clinicalgenome.org/kb/conditions/MONDO:0007958","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","0 - No Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9967","Dosage Working Group","","","","Strong Actionability (03/06/2019) | Strong Actionability (03/06/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC080 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC080"," | "
"RET","HGNC:9967","https://search.clinicalgenome.org/kb/genes/HGNC:9967","Hirschsprung disease, susceptibility to, 1","MONDO:0007723","https://search.clinicalgenome.org/kb/conditions/MONDO:0007723","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/26/2020)","0 - No Evidence for Triplosensitivity (08/26/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9967","Dosage Working Group","","","","","",""
"RETREG1","HGNC:25964","https://search.clinicalgenome.org/kb/genes/HGNC:25964","hereditary sensory and autonomic neuropathy","MONDO:0015364","https://search.clinicalgenome.org/kb/conditions/MONDO:0015364","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25964","Dosage Working Group","definitive evidence (07/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e0b9041f-06f2-47c8-b070-5d4cfaaeb2db-2024-07-08T160000.000Z","Charcot-Marie-Tooth","","",""
"RETREG1","HGNC:25964","https://search.clinicalgenome.org/kb/genes/HGNC:25964","neuropathy, hereditary sensory and autonomic, type 2B","MONDO:0013142","https://search.clinicalgenome.org/kb/conditions/MONDO:0013142","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25964","Dosage Working Group","","","","","",""
"RFC1","HGNC:9969","https://search.clinicalgenome.org/kb/genes/HGNC:9969","cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome","MONDO:0044720","https://search.clinicalgenome.org/kb/conditions/MONDO:0044720","Autosomal recessive inheritance","","","","","definitive evidence (10/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca97da22-8a5e-47d8-837c-46433ee398a9-2024-10-09T160000.000Z","Cerebellar Ataxia","","",""
"RFT1","HGNC:30220","https://search.clinicalgenome.org/kb/genes/HGNC:30220","RFT1-congenital disorder of glycosylation","MONDO:0012783","https://search.clinicalgenome.org/kb/conditions/MONDO:0012783","Autosomal recessive inheritance","","","","","moderate evidence (09/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_850304c8-4ac4-4d58-aaee-1ffa577cccf7-2023-09-05T160000.000Z","Congenital Disorders of Glycosylation","","",""
"RFX3","HGNC:9984","https://search.clinicalgenome.org/kb/genes/HGNC:9984","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (04/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_645576b3-2538-445d-a39e-d52c198db9f5-2024-04-03T160000.000Z","Intellectual Disability and Autism","","",""
"RFX5","HGNC:9986","https://search.clinicalgenome.org/kb/genes/HGNC:9986","MHC class II deficiency","MONDO:0008855","https://search.clinicalgenome.org/kb/conditions/MONDO:0008855","Autosomal recessive inheritance","","","","","definitive evidence (06/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_430c4041-5e07-45d8-bea5-eaa925a18a72-2023-06-15T170000.000Z","SCID-CID","","",""
"RFX6","HGNC:21478","https://search.clinicalgenome.org/kb/genes/HGNC:21478","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/18/2015)","0 - No Evidence for Triplosensitivity (09/18/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21478","Dosage Working Group","definitive evidence (05/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0636b0f-5a63-4905-86c9-92ef57eb77d3-2024-05-10T160000.000Z","Monogenic Diabetes","","",""
"RFX6","HGNC:21478","https://search.clinicalgenome.org/kb/genes/HGNC:21478","hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome","MONDO:0017400","https://search.clinicalgenome.org/kb/conditions/MONDO:0017400","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (09/18/2015)","0 - No Evidence for Triplosensitivity (09/18/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21478","Dosage Working Group","","","","","",""
"RFX7","HGNC:25777","https://search.clinicalgenome.org/kb/genes/HGNC:25777","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (05/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe25e617-3e55-42cb-be09-d5d3ac49cc76-2024-05-15T160000.000Z","Intellectual Disability and Autism","","",""
"RFXANK","HGNC:9987","https://search.clinicalgenome.org/kb/genes/HGNC:9987","MHC class II deficiency","MONDO:0008855","https://search.clinicalgenome.org/kb/conditions/MONDO:0008855","Autosomal recessive inheritance","","","","","definitive evidence (11/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbfd1148-ab31-4ab2-97bb-9b95387e9313-2022-11-17T180000.000Z","SCID-CID","","",""
"RFXAP","HGNC:9988","https://search.clinicalgenome.org/kb/genes/HGNC:9988","MHC class II deficiency","MONDO:0008855","https://search.clinicalgenome.org/kb/conditions/MONDO:0008855","Autosomal recessive inheritance","","","","","definitive evidence (06/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53b17c5d-ccea-4674-8746-a2bc39ad95f0-2023-06-15T170000.000Z","SCID-CID","","",""
"RGS9","HGNC:10004","https://search.clinicalgenome.org/kb/genes/HGNC:10004","bradyopsia","MONDO:0012033","https://search.clinicalgenome.org/kb/conditions/MONDO:0012033","Autosomal recessive inheritance","","","","","moderate evidence (09/08/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f90aa6cd-9e08-4fab-b6c3-570beb8232dd-2021-09-08T160000.000Z","Retina","","",""
"RHBDF2","HGNC:20788","https://search.clinicalgenome.org/kb/genes/HGNC:20788","palmoplantar keratoderma-esophageal carcinoma syndrome","MONDO:0007856","https://search.clinicalgenome.org/kb/conditions/MONDO:0007856","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/10/2025)","0 - No Evidence for Triplosensitivity (09/10/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20788","Dosage Working Group","definitive evidence (07/30/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7e72765-1a53-44fb-bfee-9e5923507bbe-2020-07-30T212232.808Z","Hereditary Cancer","","",""
"RHO","HGNC:10012","https://search.clinicalgenome.org/kb/genes/HGNC:10012","inherited retinal dystrophy","MONDO:0019118","https://search.clinicalgenome.org/kb/conditions/MONDO:0019118","Semidominant inheritance","","","","","definitive evidence (02/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29542633-051c-4b06-af52-d2c5a2a8ee90-2025-02-20T170000.000Z","Retina","","",""
"RHOBTB2","HGNC:18756","https://search.clinicalgenome.org/kb/genes/HGNC:18756","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","definitive evidence (01/16/2024) | definitive evidence (01/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cdb97806-9f55-42d1-ab27-b6222faef8ce-2024-01-16T200000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd041c1e-57d9-452d-ba92-f0bb297f067e-2024-01-16T200000.000Z","Epilepsy | Epilepsy","","",""
"RHOG","HGNC:672","https://search.clinicalgenome.org/kb/genes/HGNC:672","hemophagocytic lymphohistiocytosis due to RhoG deficiency","MONDO:0800147","https://search.clinicalgenome.org/kb/conditions/MONDO:0800147","Autosomal recessive inheritance","","","","","moderate evidence (02/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_589fa88c-acff-4f50-8b44-55798f83cc93-2024-02-20T180000.000Z","Primary Immune Regulatory Disorders","","",""
"RHOH","HGNC:686","https://search.clinicalgenome.org/kb/genes/HGNC:686","epidermodysplasia verruciformis, susceptibility to, 4","MONDO:0032666","https://search.clinicalgenome.org/kb/conditions/MONDO:0032666","Autosomal recessive inheritance","","","","","limited evidence (03/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6b27fc4-bd58-429f-bf1e-326786667f96-2023-03-02T060000.000Z","SCID-CID","","",""
"RIMS1","HGNC:17282","https://search.clinicalgenome.org/kb/genes/HGNC:17282","autism spectrum disorder","MONDO:0005258","https://search.clinicalgenome.org/kb/conditions/MONDO:0005258","N/A","1 - Little Evidence for Haploinsufficiency (01/24/2018)","0 - No Evidence for Triplosensitivity (01/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17282","Dosage Working Group","","","","","",""
"RIN2","HGNC:18750","https://search.clinicalgenome.org/kb/genes/HGNC:18750","RIN2 syndrome","MONDO:0013115","https://search.clinicalgenome.org/kb/conditions/MONDO:0013115","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18750","Dosage Working Group","definitive evidence (12/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7427a25e-68a1-4e1b-b951-f1a1d7b1e52b-2023-12-04T170000.000Z","Lysosomal Diseases GCEP","","",""
"RINT1","HGNC:21876","https://search.clinicalgenome.org/kb/genes/HGNC:21876","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/10/2024)","0 - No Evidence for Triplosensitivity (07/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21876","Dosage Working Group","no known disease relationship (09/14/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8703","Breast/Ovarian Cancer","","",""
"RINT1","HGNC:21876","https://search.clinicalgenome.org/kb/genes/HGNC:21876","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/10/2024)","0 - No Evidence for Triplosensitivity (07/10/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21876","Dosage Working Group","refuting evidence (03/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d523910c-67e4-4cec-82a2-d7803957ec02-2023-03-14T170000.000Z","Hereditary Cancer","","",""
"RIPK1","HGNC:10019","https://search.clinicalgenome.org/kb/genes/HGNC:10019","immunodeficiency 57","MONDO:0020849","https://search.clinicalgenome.org/kb/conditions/MONDO:0020849","Autosomal recessive inheritance","","","","","definitive evidence (09/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f6ca2fb-f7dc-42e8-b1bf-40ec8a47ea31-2025-09-16T160000.000Z","Primary Immune Regulatory Disorders","","",""
"RIPK4","HGNC:496","https://search.clinicalgenome.org/kb/genes/HGNC:496","Bartsocas-Papas syndrome 1","MONDO:0009901","https://search.clinicalgenome.org/kb/conditions/MONDO:0009901","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:496","Dosage Working Group","","","","","",""
"RIPOR2","HGNC:13872","https://search.clinicalgenome.org/kb/genes/HGNC:13872","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","strong evidence (05/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed7e0813-4e94-40a9-b3ef-ef90d5c4dce4-2024-05-15T160000.000Z","Hearing Loss","","",""
"RIPOR2","HGNC:13872","https://search.clinicalgenome.org/kb/genes/HGNC:13872","autosomal dominant nonsyndromic hearing loss","MONDO:0019587","https://search.clinicalgenome.org/kb/conditions/MONDO:0019587","Autosomal dominant inheritance","","","","","limited evidence (05/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64425d70-9de8-4b24-946d-338d86cecf48-2024-05-15T160000.000Z","Hearing Loss","","",""
"RIT1","HGNC:10023","https://search.clinicalgenome.org/kb/genes/HGNC:10023","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/24/2025)","0 - No Evidence for Triplosensitivity (09/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10023","Dosage Working Group","definitive evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_240565fc-61b9-4ff8-9f5a-85938f17cdd9-2018-07-24T160000.000Z","RASopathy","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"RIT1","HGNC:10023","https://search.clinicalgenome.org/kb/genes/HGNC:10023","Noonan syndrome 8","MONDO:0014143","https://search.clinicalgenome.org/kb/conditions/MONDO:0014143","N/A","0 - No Evidence for Haploinsufficiency (09/24/2025)","0 - No Evidence for Triplosensitivity (09/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10023","Dosage Working Group","","","","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"RLBP1","HGNC:10024","https://search.clinicalgenome.org/kb/genes/HGNC:10024","RLBP1-related retinopathy","MONDO:0100444","https://search.clinicalgenome.org/kb/conditions/MONDO:0100444","Autosomal recessive inheritance","","","","","definitive evidence (06/03/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d8c69db5-8d29-40af-85f0-59471ce0c62c-2021-06-03T160000.000Z","Retina","","",""
"RMND1","HGNC:21176","https://search.clinicalgenome.org/kb/genes/HGNC:21176","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21176","Dosage Working Group","definitive evidence (09/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e709765-beac-4f19-bcc0-181d0ce36f1b-2022-09-07T160000.000Z","Mitochondrial Diseases","","",""
"RMND1","HGNC:21176","https://search.clinicalgenome.org/kb/genes/HGNC:21176","combined oxidative phosphorylation defect type 11","MONDO:0013969","https://search.clinicalgenome.org/kb/conditions/MONDO:0013969","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21176","Dosage Working Group","","","","","",""
"RMRP","HGNC:10031","https://search.clinicalgenome.org/kb/genes/HGNC:10031","cartilage-hair hypoplasia","MONDO:0009595","https://search.clinicalgenome.org/kb/conditions/MONDO:0009595","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10031","Dosage Working Group","definitive evidence (07/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7328b31-364b-4a7c-aaed-731b582cb716-2021-07-27T155213.681Z","SCID-CID","","",""
"RNASEH1","HGNC:18466","https://search.clinicalgenome.org/kb/genes/HGNC:18466","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (01/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcf8b7a4-7bd5-45fe-824c-6a90825620f7-2021-01-14T213824.328Z","Mitochondrial Diseases","","",""
"RNASEH2A","HGNC:18518","https://search.clinicalgenome.org/kb/genes/HGNC:18518","RNASEH2A-related type 1 interferonopathy","MONDO:0700259","https://search.clinicalgenome.org/kb/conditions/MONDO:0700259","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18518","Dosage Working Group","definitive evidence (08/26/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dca1f8e4-e678-4c72-9698-6e56381cfa7b-2024-08-26T160000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"RNASEH2A","HGNC:18518","https://search.clinicalgenome.org/kb/genes/HGNC:18518","Aicardi-Goutieres syndrome 4","MONDO:0012472","https://search.clinicalgenome.org/kb/conditions/MONDO:0012472","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18518","Dosage Working Group","","","","","",""
"RNASEH2B","HGNC:25671","https://search.clinicalgenome.org/kb/genes/HGNC:25671","RNASEH2B-related type 1 interferonopathy","MONDO:0700257","https://search.clinicalgenome.org/kb/conditions/MONDO:0700257","Autosomal recessive inheritance","","","","","definitive evidence (01/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf20855e-de5b-4298-b709-bce27fdfd75b-2025-01-10T180000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"RNASEH2C","HGNC:24116","https://search.clinicalgenome.org/kb/genes/HGNC:24116","RNASEH2C-related type 1 interferonopathy","MONDO:0700258","https://search.clinicalgenome.org/kb/conditions/MONDO:0700258","Autosomal recessive inheritance","","","","","definitive evidence (08/26/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9f65b554-f11e-41ff-8a6f-dcb5d8484122-2024-08-26T160000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"RNF168","HGNC:26661","https://search.clinicalgenome.org/kb/genes/HGNC:26661","RIDDLE syndrome","MONDO:0012764","https://search.clinicalgenome.org/kb/conditions/MONDO:0012764","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26661","Dosage Working Group","definitive evidence (08/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2eab353f-d7ed-4f22-883e-0b62c7bc4f9b-2022-08-08T170000.000Z","SCID-CID","","",""
"RNF31","HGNC:16031","https://search.clinicalgenome.org/kb/genes/HGNC:16031","immunodeficiency 115 with autoinflammation","MONDO:0957981","https://search.clinicalgenome.org/kb/conditions/MONDO:0957981","Autosomal recessive inheritance","","","","","moderate evidence (01/06/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_432d521f-5d7b-47e7-9f4f-26466e04a4fa-2025-01-06T170000.000Z","SCID-CID","","",""
"RNF40","HGNC:16867","https://search.clinicalgenome.org/kb/genes/HGNC:16867","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (04/30/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e47b7b7-e23d-4314-8019-468134c318d0-2024-04-30T160000.000Z","Congenital Heart Disease","","",""
"RNF43","HGNC:18505","https://search.clinicalgenome.org/kb/genes/HGNC:18505","sessile serrated polyposis cancer syndrome","MONDO:0014919","https://search.clinicalgenome.org/kb/conditions/MONDO:0014919","Autosomal dominant inheritance","","","","","definitive evidence (12/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9abf2a1d-21a7-4ef7-99c7-b0b37d5acf38-2022-12-30T180000.000Z","Hereditary Cancer","","",""
"RNU4ATAC","HGNC:34016","https://search.clinicalgenome.org/kb/genes/HGNC:34016","RNU4ATAC spectrum disorder","MONDO:0100558","https://search.clinicalgenome.org/kb/conditions/MONDO:0100558","Autosomal recessive inheritance","","","","","definitive evidence (08/27/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a4030c4-048a-4bc3-8101-3ecf28747f96-2024-08-27T160000.000Z","Skeletal Disorders","","",""
"ROBO1","HGNC:10249","https://search.clinicalgenome.org/kb/genes/HGNC:10249","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance | Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (09/25/2018)","0 - No Evidence for Triplosensitivity (09/25/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10249","Dosage Working Group","limited evidence (09/03/2024) | limited evidence (09/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef3f81f4-4b3b-40ee-af2c-8235e92e7cfb-2024-09-03T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0d0c93c-abf7-4bf2-8b0f-e47cfce87656-2024-09-03T160000.000Z","Congenital Heart Disease | Congenital Heart Disease","","",""
"ROBO3","HGNC:13433","https://search.clinicalgenome.org/kb/genes/HGNC:13433","gaze palsy, familial horizontal, with progressive scoliosis 1","MONDO:0020790","https://search.clinicalgenome.org/kb/conditions/MONDO:0020790","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13433","Dosage Working Group","definitive evidence (07/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_257a59f3-1f00-4bd8-b255-793bc692bc9c-2022-07-12T170000.000Z","Brain Malformations","","",""
"ROCK2","HGNC:10252","https://search.clinicalgenome.org/kb/genes/HGNC:10252","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (09/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09e6b7ea-62e5-497a-8112-b09234dd99d1-2024-09-03T160000.000Z","Congenital Heart Disease","","",""
"ROGDI","HGNC:29478","https://search.clinicalgenome.org/kb/genes/HGNC:29478","amelocerebrohypohidrotic syndrome","MONDO:0009185","https://search.clinicalgenome.org/kb/conditions/MONDO:0009185","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/12/2015)","0 - No Evidence for Triplosensitivity (02/12/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29478","Dosage Working Group","definitive evidence (06/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dc4132b5-fd80-440b-b7ae-65f4d28f33f1-2022-06-21T160000.000Z","Epilepsy","","",""
"ROR1","HGNC:10256","https://search.clinicalgenome.org/kb/genes/HGNC:10256","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","limited evidence (06/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fdee1ffc-d8bd-4188-acb6-5fad8f5902a6-2022-06-15T040000.000Z","Hearing Loss","","",""
"RORB","HGNC:10259","https://search.clinicalgenome.org/kb/genes/HGNC:10259","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/14/2025)","0 - No Evidence for Triplosensitivity (01/14/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10259","Dosage Working Group","definitive evidence (05/21/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_88c55f22-3f6f-467a-b38b-267f93d6cc9a-2024-05-21T160000.000Z","Epilepsy","","",""
"RP1","HGNC:10263","https://search.clinicalgenome.org/kb/genes/HGNC:10263","RP1-related recessive retinopathy","MONDO:0800399","https://search.clinicalgenome.org/kb/conditions/MONDO:0800399","Autosomal recessive inheritance","","","","","definitive evidence (07/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cbd531f-7c23-4745-a3da-38a2db421fc3-2022-07-07T160000.000Z","Retina","","",""
"RP1","HGNC:10263","https://search.clinicalgenome.org/kb/genes/HGNC:10263","RP1-related dominant retinopathy","MONDO:0800400","https://search.clinicalgenome.org/kb/conditions/MONDO:0800400","Semidominant inheritance","","","","","definitive evidence (09/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12feacf6-5c08-4cf7-9879-0ed6c134bf81-2022-09-01T160000.000Z","Retina","","",""
"RP2","HGNC:10274","https://search.clinicalgenome.org/kb/genes/HGNC:10274","RP2-related retinopathy","MONDO:0100442","https://search.clinicalgenome.org/kb/conditions/MONDO:0100442","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/04/2012)","0 - No Evidence for Triplosensitivity (10/04/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10274","Dosage Working Group","definitive evidence (03/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_75e3203d-3841-49eb-84d4-e6238eda55ea-2022-03-02T214941.540Z","Retina","","",""
"RP2","HGNC:10274","https://search.clinicalgenome.org/kb/genes/HGNC:10274","retinitis pigmentosa 2","MONDO:0010723","https://search.clinicalgenome.org/kb/conditions/MONDO:0010723","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/04/2012)","0 - No Evidence for Triplosensitivity (10/04/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10274","Dosage Working Group","","","","","",""
"RP9","HGNC:10288","https://search.clinicalgenome.org/kb/genes/HGNC:10288","retinitis pigmentosa 9","MONDO:0008378","https://search.clinicalgenome.org/kb/conditions/MONDO:0008378","Autosomal dominant inheritance","","","","","limited evidence (02/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d204f15c-8ffe-4bd8-a47a-4969ba5cd3ba-2025-02-18T170000.000Z","Retina","","",""
"RPE65","HGNC:10294","https://search.clinicalgenome.org/kb/genes/HGNC:10294","RPE65-related recessive retinopathy","MONDO:0100368","https://search.clinicalgenome.org/kb/conditions/MONDO:0100368","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/27/2025)","0 - No Evidence for Triplosensitivity (02/27/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10294","Dosage Working Group","definitive evidence (05/24/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_375ffa04-a8d9-427e-8948-f913bc8ff68d-2022-05-24T214158.160Z","Retina","Strong Actionability (02/25/2019) | Moderate Actionability (02/25/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC012 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC012"," | "
"RPE65","HGNC:10294","https://search.clinicalgenome.org/kb/genes/HGNC:10294","RPE65-related dominant retinopathy","MONDO:0100452","https://search.clinicalgenome.org/kb/conditions/MONDO:0100452","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/27/2025)","0 - No Evidence for Triplosensitivity (02/27/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10294","Dosage Working Group","strong evidence (02/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a45f0ada-a32b-406e-b714-790a0cd4a6a2-2022-02-07T024303.928Z","Retina","","",""
"RPGR","HGNC:10295","https://search.clinicalgenome.org/kb/genes/HGNC:10295","RPGR-related retinopathy","MONDO:0100437","https://search.clinicalgenome.org/kb/conditions/MONDO:0100437","X-linked inheritance","","","","","definitive evidence (08/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57ad94c7-d914-4a84-ab33-597c8d4bafdd-2022-08-05T160000.000Z","Retina","","",""
"RPGRIP1","HGNC:13436","https://search.clinicalgenome.org/kb/genes/HGNC:13436","Leber congenital amaurosis 6","MONDO:0013446","https://search.clinicalgenome.org/kb/conditions/MONDO:0013446","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13436","Dosage Working Group","","","","","",""
"RPGRIP1L","HGNC:29168","https://search.clinicalgenome.org/kb/genes/HGNC:29168","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","definitive evidence (04/24/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab4cfcff-be99-4c82-ab33-8451b5ed5b0c-2024-04-24T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"RPL10","HGNC:10298","https://search.clinicalgenome.org/kb/genes/HGNC:10298","X-linked syndromic intellectual disability","MONDO:0020119","https://search.clinicalgenome.org/kb/conditions/MONDO:0020119","X-linked inheritance","0 - No Evidence for Haploinsufficiency (10/24/2018)","0 - No Evidence for Triplosensitivity (10/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10298","Dosage Working Group","definitive evidence (11/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_974ac8bb-f7b1-4480-869a-e9ef4b8b3fa3-2024-11-28T170000.000Z","Intellectual Disability and Autism","","",""
"RPL10","HGNC:10298","https://search.clinicalgenome.org/kb/genes/HGNC:10298","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","0 - No Evidence for Haploinsufficiency (10/24/2018)","0 - No Evidence for Triplosensitivity (10/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10298","Dosage Working Group","","","","","",""
"RPL3L","HGNC:10351","https://search.clinicalgenome.org/kb/genes/HGNC:10351","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","moderate evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1dae12df-f703-4e4d-99b6-b38f6ed65fa0-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"RPL5","HGNC:10360","https://search.clinicalgenome.org/kb/genes/HGNC:10360","Diamond-Blackfan anemia 6","MONDO:0012937","https://search.clinicalgenome.org/kb/conditions/MONDO:0012937","Autosomal dominant inheritance","","","","","definitive evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_edb6a96b-92d7-4c57-8613-e055d1bdd678-2023-05-30T160000.000Z","Syndromic Disorders","","",""
"RPS10","HGNC:10383","https://search.clinicalgenome.org/kb/genes/HGNC:10383","Diamond-Blackfan anemia","MONDO:0015253","https://search.clinicalgenome.org/kb/conditions/MONDO:0015253","Autosomal dominant inheritance","","","","","definitive evidence (01/19/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3205","General Gene Curation","","",""
"RPS10","HGNC:10383","https://search.clinicalgenome.org/kb/genes/HGNC:10383","Diamond-Blackfan anemia 9","MONDO:0013216","https://search.clinicalgenome.org/kb/conditions/MONDO:0013216","N/A","","","","","","","","Strong Actionability (03/10/2022) | Has Insufficient Evidence for Actionability Based on Early Rule-out (03/10/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1045 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1045"," | "
"RPS17","HGNC:10397","https://search.clinicalgenome.org/kb/genes/HGNC:10397","Diamond-Blackfan anemia 4","MONDO:0012924","https://search.clinicalgenome.org/kb/conditions/MONDO:0012924","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/10/2015)","0 - No Evidence for Triplosensitivity (12/10/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10397","Dosage Working Group","","","","","",""
"RPS19","HGNC:10402","https://search.clinicalgenome.org/kb/genes/HGNC:10402","Diamond-Blackfan anemia","MONDO:0015253","https://search.clinicalgenome.org/kb/conditions/MONDO:0015253","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/24/2021)","0 - No Evidence for Triplosensitivity (03/24/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10402","Dosage Working Group","definitive evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bceef5ee-7596-4a90-91ce-b36385f9669b-2023-05-30T160000.000Z","Syndromic Disorders","","",""
"RPS19","HGNC:10402","https://search.clinicalgenome.org/kb/genes/HGNC:10402","Diamond-Blackfan anemia 1","MONDO:0007110","https://search.clinicalgenome.org/kb/conditions/MONDO:0007110","N/A","3 - Sufficient Evidence for Haploinsufficiency (03/24/2021)","0 - No Evidence for Triplosensitivity (03/24/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10402","Dosage Working Group","","","","Strong Actionability (03/10/2022) | Has Insufficient Evidence for Actionability Based on Early Rule-out (03/10/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1045 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1045"," | "
"RPS20","HGNC:10405","https://search.clinicalgenome.org/kb/genes/HGNC:10405","Lynch syndrome","MONDO:0005835","https://search.clinicalgenome.org/kb/conditions/MONDO:0005835","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (12/12/2024)","0 - No Evidence for Triplosensitivity (12/12/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10405","Dosage Working Group","limited evidence (03/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_258ec9c5-12bb-4d8b-9bc2-d5747b52660c-2024-03-22T170000.000Z","Hereditary Cancer","","",""
"RPS24","HGNC:10411","https://search.clinicalgenome.org/kb/genes/HGNC:10411","Diamond-Blackfan anemia","MONDO:0015253","https://search.clinicalgenome.org/kb/conditions/MONDO:0015253","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/09/2025)","0 - No Evidence for Triplosensitivity (04/09/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10411","Dosage Working Group","definitive evidence (01/19/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3206","General Gene Curation","","",""
"RPS24","HGNC:10411","https://search.clinicalgenome.org/kb/genes/HGNC:10411","Diamond-Blackfan anemia 3","MONDO:0012529","https://search.clinicalgenome.org/kb/conditions/MONDO:0012529","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/09/2025)","0 - No Evidence for Triplosensitivity (04/09/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10411","Dosage Working Group","","","","Strong Actionability (03/10/2022) | Has Insufficient Evidence for Actionability Based on Early Rule-out (03/10/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1045 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1045"," | "
"RPS26","HGNC:10414","https://search.clinicalgenome.org/kb/genes/HGNC:10414","Diamond-Blackfan anemia 10","MONDO:0013217","https://search.clinicalgenome.org/kb/conditions/MONDO:0013217","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/23/2019)","0 - No Evidence for Triplosensitivity (10/23/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10414","Dosage Working Group","","","","","",""
"RPS6KA3","HGNC:10432","https://search.clinicalgenome.org/kb/genes/HGNC:10432","Coffin-Lowry syndrome","MONDO:0010561","https://search.clinicalgenome.org/kb/conditions/MONDO:0010561","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/14/2022)","0 - No Evidence for Triplosensitivity (06/14/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10432","Dosage Working Group","definitive evidence (05/28/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af32a931-1d55-432f-82cf-ce87f6c26580-2019-05-28T040000.000Z","Intellectual Disability and Autism","","",""
"RPS6KB1","HGNC:10436","https://search.clinicalgenome.org/kb/genes/HGNC:10436","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","limited evidence (09/13/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2e24747c-18e6-4db0-8ee7-1259bc74c4da-2023-09-13T160000.000Z","Hereditary Cardiovascular Disease","","",""
"RRAS","HGNC:10447","https://search.clinicalgenome.org/kb/genes/HGNC:10447","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","","","","","limited evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96280a14-d8cd-4c9b-b3e0-d5fcd8bf9ef6-2018-07-24T160000.000Z","RASopathy","","",""
"RRAS2","HGNC:17271","https://search.clinicalgenome.org/kb/genes/HGNC:17271","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","","","","","definitive evidence (12/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c5742615-3820-41dd-a523-e660a498f9e8-2022-12-14T170000.000Z","RASopathy","","",""
"RS1","HGNC:10457","https://search.clinicalgenome.org/kb/genes/HGNC:10457","X-linked retinoschisis","MONDO:0010725","https://search.clinicalgenome.org/kb/conditions/MONDO:0010725","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/02/2021)","0 - No Evidence for Triplosensitivity (08/02/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10457","Dosage Working Group","definitive evidence (12/18/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_061adaaf-8b09-42e4-ae31-9b9c03d6e944-2020-12-18T165803.135Z","Retina","","",""
"RSPH1","HGNC:12371","https://search.clinicalgenome.org/kb/genes/HGNC:12371","primary ciliary dyskinesia 24","MONDO:0014202","https://search.clinicalgenome.org/kb/conditions/MONDO:0014202","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12371","Dosage Working Group","definitive evidence (06/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f2bdb2e5-9659-46af-b306-e01207f31174-2022-06-07T110000.000Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"RSPH3","HGNC:21054","https://search.clinicalgenome.org/kb/genes/HGNC:21054","primary ciliary dyskinesia 32","MONDO:0014657","https://search.clinicalgenome.org/kb/conditions/MONDO:0014657","Autosomal recessive inheritance","","","","","definitive evidence (08/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_988a074a-14e9-41e3-a1a6-fff72dda3936-2024-08-08T160000.000Z","Motile Ciliopathy GCEP","","",""
"RSPH4A","HGNC:21558","https://search.clinicalgenome.org/kb/genes/HGNC:21558","primary ciliary dyskinesia 11","MONDO:0012978","https://search.clinicalgenome.org/kb/conditions/MONDO:0012978","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21558","Dosage Working Group","definitive evidence (04/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f876804-e14a-4c7e-a826-232c7f445c7f-2022-04-05T150444.668Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"RSPH9","HGNC:21057","https://search.clinicalgenome.org/kb/genes/HGNC:21057","primary ciliary dyskinesia 12","MONDO:0012979","https://search.clinicalgenome.org/kb/conditions/MONDO:0012979","Autosomal recessive inheritance","","","","","definitive evidence (10/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_25b8ea38-8de2-45b7-95a1-51b33affb747-2023-10-12T160000.000Z","Motile Ciliopathy GCEP","","",""
"RSPO4","HGNC:16175","https://search.clinicalgenome.org/kb/genes/HGNC:16175","nonsyndromic congenital nail disorder 4","MONDO:0008798","https://search.clinicalgenome.org/kb/conditions/MONDO:0008798","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16175","Dosage Working Group","","","","","",""
"RTKN2","HGNC:19364","https://search.clinicalgenome.org/kb/genes/HGNC:19364","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","no known disease relationship (08/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5457584-d9b3-4bde-87d5-26a4574f19fb-2025-08-21T160000.000Z","Dilated Cardiomyopathy","","",""
"RTTN","HGNC:18654","https://search.clinicalgenome.org/kb/genes/HGNC:18654","microcephalic primordial dwarfism due to RTTN deficiency","MONDO:0018764","https://search.clinicalgenome.org/kb/conditions/MONDO:0018764","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18654","Dosage Working Group","definitive evidence (10/24/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebfb3367-c465-4e77-9256-ab34683c8ba7-2024-10-24T160000.000Z","Brain Malformations","","",""
"RTTN","HGNC:18654","https://search.clinicalgenome.org/kb/genes/HGNC:18654","bilateral generalized polymicrogyria","MONDO:0013907","https://search.clinicalgenome.org/kb/conditions/MONDO:0013907","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18654","Dosage Working Group","","","","","",""
"RUNX1","HGNC:10471","https://search.clinicalgenome.org/kb/genes/HGNC:10471","hereditary thrombocytopenia and hematologic cancer predisposition syndrome","MONDO:0011071","https://search.clinicalgenome.org/kb/conditions/MONDO:0011071","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/14/2023)","0 - No Evidence for Triplosensitivity (06/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10471","Dosage Working Group","definitive evidence (06/04/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06aed341-58db-459b-a750-7142e29b420b-2018-06-04T170000.000Z","Hereditary Cancer","","",""
"RUNX1","HGNC:10471","https://search.clinicalgenome.org/kb/genes/HGNC:10471","hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1","MONDO:0100083","https://search.clinicalgenome.org/kb/conditions/MONDO:0100083","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/14/2023)","0 - No Evidence for Triplosensitivity (06/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10471","Dosage Working Group","","","","Moderate Actionability (09/02/2021) | Moderate Actionability (09/02/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1042"," | "
"RUNX1","HGNC:10471","https://search.clinicalgenome.org/kb/genes/HGNC:10471","microcephaly, corpus callosum dysgenesis, and cleft lip/palate","MONDO:0011077","https://search.clinicalgenome.org/kb/conditions/MONDO:0011077","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/14/2023)","0 - No Evidence for Triplosensitivity (06/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10471","Dosage Working Group","","","","Moderate Actionability (09/02/2021) | Moderate Actionability (09/02/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1042"," | "
"RXRA","HGNC:10477","https://search.clinicalgenome.org/kb/genes/HGNC:10477","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Mode of inheritance","","","","","no known disease relationship (10/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64fcc8f7-81ba-41df-9b28-8b60aa82b41a-2024-10-01T160000.000Z","Congenital Heart Disease","","",""
"RXYLT1","HGNC:13530","https://search.clinicalgenome.org/kb/genes/HGNC:13530","muscle-eye-brain disease","MONDO:0018939","https://search.clinicalgenome.org/kb/conditions/MONDO:0018939","Autosomal recessive inheritance","","","","","definitive evidence (07/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_31f6e2b9-8355-4631-8f6b-dadad24dabc4-2023-07-28T160000.000Z","Brain Malformations","","",""
"RYR1","HGNC:10483","https://search.clinicalgenome.org/kb/genes/HGNC:10483","RYR1-related myopathy","MONDO:0100150","https://search.clinicalgenome.org/kb/conditions/MONDO:0100150","Autosomal recessive inheritance | Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/12/2015)","0 - No Evidence for Triplosensitivity (11/12/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10483","Dosage Working Group","definitive evidence (07/27/2020) | definitive evidence (10/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d5e4ff9a-94ad-453f-b2de-76deb98fe4ca-2020-07-27T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbd82373-705c-4b60-8b73-147ed461d357-2020-10-26T160000.000Z","Congenital Myopathies | Congenital Myopathies","","",""
"RYR1","HGNC:10483","https://search.clinicalgenome.org/kb/genes/HGNC:10483","malignant hyperthermia, susceptibility to, 1","MONDO:0007783","https://search.clinicalgenome.org/kb/conditions/MONDO:0007783","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/12/2015)","0 - No Evidence for Triplosensitivity (11/12/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10483","Dosage Working Group","definitive evidence (11/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bcd5e6ba-ef77-434c-9ec6-47f72f597bfe-2020-11-25T170000.000Z","General Gene Curation","Strong Actionability (01/12/2021) | Strong Actionability (01/12/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC076 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC076"," | "
"RYR1","HGNC:10483","https://search.clinicalgenome.org/kb/genes/HGNC:10483","malignant hyperthermia of anesthesia","MONDO:0018493","https://search.clinicalgenome.org/kb/conditions/MONDO:0018493","N/A","0 - No Evidence for Haploinsufficiency (11/12/2015)","0 - No Evidence for Triplosensitivity (11/12/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10483","Dosage Working Group","","","","Strong Actionability (01/12/2021) | Strong Actionability (01/12/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC076 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC076"," | "
"RYR2","HGNC:10484","https://search.clinicalgenome.org/kb/genes/HGNC:10484","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/06/2015)","0 - No Evidence for Triplosensitivity (11/06/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10484","Dosage Working Group","refuting evidence (07/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52fa7dee-4daa-4685-9461-f39c57a22f05-2019-07-19T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"RYR2","HGNC:10484","https://search.clinicalgenome.org/kb/genes/HGNC:10484","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/06/2015)","0 - No Evidence for Triplosensitivity (11/06/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10484","Dosage Working Group","limited evidence (12/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ac9dd09-674f-4d67-94da-234ffb4e5070-2022-12-14T170000.000Z","Hereditary Cardiovascular Disease","","",""
"RYR2","HGNC:10484","https://search.clinicalgenome.org/kb/genes/HGNC:10484","catecholaminergic polymorphic ventricular tachycardia","MONDO:0017990","https://search.clinicalgenome.org/kb/conditions/MONDO:0017990","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/06/2015)","0 - No Evidence for Triplosensitivity (11/06/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10484","Dosage Working Group","definitive evidence (01/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1da07a67-9d04-448b-843b-39dac372cb59-2021-01-20T050000.000Z","Catecholaminergic Polymorphic Ventricular Tachycardia","Strong Actionability (03/11/2021) | Strong Actionability (03/11/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC042"," | "
"RYR2","HGNC:10484","https://search.clinicalgenome.org/kb/genes/HGNC:10484","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/06/2015)","0 - No Evidence for Triplosensitivity (11/06/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10484","Dosage Working Group","limited evidence (01/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b35e4dc8-c7d6-4c20-995f-0b1f4508ee3d-2025-01-10T170000.000Z","Dilated Cardiomyopathy","","",""
"RYR2","HGNC:10484","https://search.clinicalgenome.org/kb/genes/HGNC:10484","catecholaminergic polymorphic ventricular tachycardia 1","MONDO:0011484","https://search.clinicalgenome.org/kb/conditions/MONDO:0011484","N/A","0 - No Evidence for Haploinsufficiency (11/06/2015)","0 - No Evidence for Triplosensitivity (11/06/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10484","Dosage Working Group","","","","Strong Actionability (03/11/2021) | Strong Actionability (03/11/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC042"," | "
"RYR3","HGNC:10485","https://search.clinicalgenome.org/kb/genes/HGNC:10485","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","","","","","limited evidence (10/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a277276e-7efa-45c9-ad01-74e9aa2dea63-2023-10-03T190000.000Z","Epilepsy","","",""
"RYR3","HGNC:10485","https://search.clinicalgenome.org/kb/genes/HGNC:10485","congenital myopathy","MONDO:0019952","https://search.clinicalgenome.org/kb/conditions/MONDO:0019952","Autosomal recessive inheritance","","","","","disputing (08/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f234219f-23fd-449f-9d7e-4c1731af3309-2023-08-28T160000.000Z","Congenital Myopathies","","",""
"S1PR2","HGNC:3169","https://search.clinicalgenome.org/kb/genes/HGNC:3169","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","strong evidence (03/02/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8405","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"S1PR2","HGNC:3169","https://search.clinicalgenome.org/kb/genes/HGNC:3169","autosomal recessive nonsyndromic hearing loss 68","MONDO:0012485","https://search.clinicalgenome.org/kb/conditions/MONDO:0012485","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"S1PR2","HGNC:3169","https://search.clinicalgenome.org/kb/genes/HGNC:3169","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"S1PR2","HGNC:3169","https://search.clinicalgenome.org/kb/genes/HGNC:3169","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"SACS","HGNC:10519","https://search.clinicalgenome.org/kb/genes/HGNC:10519","Charlevoix-Saguenay spastic ataxia","MONDO:0010041","https://search.clinicalgenome.org/kb/conditions/MONDO:0010041","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10519","Dosage Working Group","","","","","",""
"SALL1","HGNC:10524","https://search.clinicalgenome.org/kb/genes/HGNC:10524","Townes-Brocks syndrome 1","MONDO:0054581","https://search.clinicalgenome.org/kb/conditions/MONDO:0054581","N/A","1 - Little Evidence for Haploinsufficiency (01/27/2021)","0 - No Evidence for Triplosensitivity (01/27/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10524","Dosage Working Group","","","","","",""
"SALL4","HGNC:15924","https://search.clinicalgenome.org/kb/genes/HGNC:15924","Duane-radial ray syndrome","MONDO:0011812","https://search.clinicalgenome.org/kb/conditions/MONDO:0011812","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/11/2021)","0 - No Evidence for Triplosensitivity (01/11/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15924","Dosage Working Group","","","","","",""
"SAMD9","HGNC:1348","https://search.clinicalgenome.org/kb/genes/HGNC:1348","normophosphatemic familial tumoral calcinosis","MONDO:0012502","https://search.clinicalgenome.org/kb/conditions/MONDO:0012502","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (05/14/2024)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1348","Dosage Working Group","limited evidence (02/11/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ac34dc9-b3df-4ac7-83e1-af4e4fcee384-2025-02-11T170000.000Z","Childhood, Adolescent and Young Adult Cancer Predisposition","","",""
"SAMD9","HGNC:1348","https://search.clinicalgenome.org/kb/genes/HGNC:1348","SAMD9-related spectrum and myeloid neoplasm risk","MONDO:0100628","https://search.clinicalgenome.org/kb/conditions/MONDO:0100628","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (05/14/2024)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1348","Dosage Working Group","definitive evidence (12/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_217808da-14ba-4447-944c-ed1cd64d4b7e-2024-12-10T170000.000Z","Childhood, Adolescent and Young Adult Cancer Predisposition","","",""
"SAMD9L","HGNC:1349","https://search.clinicalgenome.org/kb/genes/HGNC:1349","SAMD9L-related spectrum and myeloid neoplasm risk","MONDO:1060111","https://search.clinicalgenome.org/kb/conditions/MONDO:1060111","Autosomal dominant inheritance","","","","","definitive evidence (01/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b553726-ca22-4116-bb50-373089ac4cb6-2025-01-14T170000.000Z","Childhood, Adolescent and Young Adult Cancer Predisposition","","",""
"SAMHD1","HGNC:15925","https://search.clinicalgenome.org/kb/genes/HGNC:15925","SAMHD1-related type 1 interferonopathy","MONDO:0700260","https://search.clinicalgenome.org/kb/conditions/MONDO:0700260","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/28/2025)","0 - No Evidence for Triplosensitivity (03/28/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15925","Dosage Working Group","definitive evidence (07/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fdb550bf-9374-440d-b5cd-29ba7c64c49d-2024-07-01T180000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"SARDH","HGNC:10536","https://search.clinicalgenome.org/kb/genes/HGNC:10536","sarcosinemia","MONDO:0010008","https://search.clinicalgenome.org/kb/conditions/MONDO:0010008","Autosomal recessive inheritance","","","","","limited evidence (12/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b994b6f-f296-45af-9d52-c1d0b211ef74-2022-12-12T170000.000Z","Aminoacidopathy","","",""
"SARS1","HGNC:10537","https://search.clinicalgenome.org/kb/genes/HGNC:10537","neurodevelopmental disorder with microcephaly, ataxia, and seizures","MONDO:0060577","https://search.clinicalgenome.org/kb/conditions/MONDO:0060577","Autosomal recessive inheritance","","","","","limited evidence (07/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ad14a75e-47ae-44c8-b122-f6ce95439143-2023-07-18T180000.000Z","Intellectual Disability and Autism","","",""
"SARS2","HGNC:17697","https://search.clinicalgenome.org/kb/genes/HGNC:17697","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (06/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d49e2a27-bd5f-4bc5-8d41-e3f0b4b043ad-2022-06-06T160000.000Z","Mitochondrial Diseases","","",""
"SASH3","HGNC:15975","https://search.clinicalgenome.org/kb/genes/HGNC:15975","combined immunodeficiency, X-linked","MONDO:0010730","https://search.clinicalgenome.org/kb/conditions/MONDO:0010730","X-linked inheritance","","","","","definitive evidence (12/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f112c27-e610-425d-bbc5-a6d1d0de4da1-2024-12-20T100000.000Z","Antibody Deficiencies GCEP","","",""
"SAT1","HGNC:10540","https://search.clinicalgenome.org/kb/genes/HGNC:10540","pediatric systemic lupus erythematosus","MONDO:0019725","https://search.clinicalgenome.org/kb/conditions/MONDO:0019725","X-linked inheritance","","","","","limited evidence (06/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51dc331c-64d2-4d0d-885a-54f1a4dab232-2024-06-14T190000.000Z","Monogenic Systemic and Incomplete Lupus Erythematosus","","",""
"SATB1","HGNC:10541","https://search.clinicalgenome.org/kb/genes/HGNC:10541","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (09/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08d76b58-f875-484e-986c-ac0dd559977c-2024-09-17T160000.000Z","Intellectual Disability and Autism","","",""
"SATB2","HGNC:21637","https://search.clinicalgenome.org/kb/genes/HGNC:21637","SATB2 associated disorder","MONDO:0100147","https://search.clinicalgenome.org/kb/conditions/MONDO:0100147","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/15/2020)","0 - No Evidence for Triplosensitivity (07/15/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21637","Dosage Working Group","definitive evidence (09/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44d14081-fa32-4159-9049-35f510d2351a-2020-09-15T160000.000Z","Intellectual Disability and Autism","","",""
"SBDS","HGNC:19440","https://search.clinicalgenome.org/kb/genes/HGNC:19440","Shwachman-Diamond syndrome","MONDO:0009833","https://search.clinicalgenome.org/kb/conditions/MONDO:0009833","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/08/2024)","0 - No Evidence for Triplosensitivity (05/08/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19440","Dosage Working Group","definitive evidence (07/30/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c2a84f0-e42d-487f-a2af-5b536a30d30c-2020-07-30T210401.699Z","Hereditary Cancer","","",""
"SBF1","HGNC:10542","https://search.clinicalgenome.org/kb/genes/HGNC:10542","Charcot-Marie-Tooth disease type 4B3","MONDO:0014117","https://search.clinicalgenome.org/kb/conditions/MONDO:0014117","Autosomal recessive inheritance","","","","","moderate evidence (12/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0f814d9-02db-4c0c-8e1c-20a7759d993f-2024-12-02T170000.000Z","Charcot-Marie-Tooth","","",""
"SBF2","HGNC:2135","https://search.clinicalgenome.org/kb/genes/HGNC:2135","Charcot-Marie-Tooth disease type 4B2","MONDO:0011475","https://search.clinicalgenome.org/kb/conditions/MONDO:0011475","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2135","Dosage Working Group","definitive evidence (03/22/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01893bf4-e95d-4206-9d2e-e3822f778b7a-2021-03-22T201309.257Z","Charcot-Marie-Tooth","","",""
"SCAF4","HGNC:19304","https://search.clinicalgenome.org/kb/genes/HGNC:19304","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (01/07/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa0ea325-5ca0-45f3-93c6-0cda1554be4f-2025-01-07T170000.000Z","Intellectual Disability and Autism","","",""
"SCARB2","HGNC:1665","https://search.clinicalgenome.org/kb/genes/HGNC:1665","progressive myoclonus epilepsy","MONDO:0020074","https://search.clinicalgenome.org/kb/conditions/MONDO:0020074","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1665","Dosage Working Group","definitive evidence (08/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dc556613-cf24-44ee-8354-98ce91f78d7d-2020-08-23T190000.000Z","Epilepsy","","",""
"SCARF2","HGNC:19869","https://search.clinicalgenome.org/kb/genes/HGNC:19869","van den Ende-Gupta syndrome","MONDO:0010959","https://search.clinicalgenome.org/kb/conditions/MONDO:0010959","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19869","Dosage Working Group","","","","","",""
"SCN10A","HGNC:10582","https://search.clinicalgenome.org/kb/genes/HGNC:10582","Brugada syndrome","MONDO:0015263","https://search.clinicalgenome.org/kb/conditions/MONDO:0015263","Autosomal dominant inheritance","","","","","disputing (09/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_346bdecd-dab6-4b17-940d-0e5797a82713-2025-09-10T020000.000Z","Hereditary Cardiovascular Disease","","",""
"SCN11A","HGNC:10583","https://search.clinicalgenome.org/kb/genes/HGNC:10583","obsolete autosomal dominant hereditary sensory and autonomic neuropathy","MONDO:0015365","https://search.clinicalgenome.org/kb/conditions/MONDO:0015365","Autosomal dominant inheritance","","","","","definitive evidence (02/25/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_abe8c0db-503c-46fa-a2a6-e4d6071219d0-2022-02-25T020007.355Z","Charcot-Marie-Tooth","","",""
"SCN1A","HGNC:10585","https://search.clinicalgenome.org/kb/genes/HGNC:10585","Dravet syndrome","MONDO:0100135","https://search.clinicalgenome.org/kb/conditions/MONDO:0100135","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10585","Dosage Working Group","definitive evidence (08/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60334a15-c73e-42ce-b7d2-4796c2affde4-2019-08-20T160000.000Z","Epilepsy","Has Insufficient Evidence for Actionability Based on Early Rule-out (05/09/2023) | Moderate Actionability (05/21/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1034 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1034"," | "
"SCN1A","HGNC:10585","https://search.clinicalgenome.org/kb/genes/HGNC:10585","familial hemiplegic migraine","MONDO:0000700","https://search.clinicalgenome.org/kb/conditions/MONDO:0000700","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10585","Dosage Working Group","moderate evidence (09/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8c1e158-983d-4547-a739-7781961e5bb8-2021-09-14T163408.306Z","Epilepsy","","",""
"SCN1A","HGNC:10585","https://search.clinicalgenome.org/kb/genes/HGNC:10585","generalized epilepsy with febrile seizures plus","MONDO:0018214","https://search.clinicalgenome.org/kb/conditions/MONDO:0018214","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10585","Dosage Working Group","definitive evidence (09/06/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ac39f7a-0743-47b1-8efd-21e0ca836840-2019-09-06T194357.485Z","Epilepsy","","",""
"SCN1A","HGNC:10585","https://search.clinicalgenome.org/kb/genes/HGNC:10585","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10585","Dosage Working Group","strong evidence (10/25/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_529f9cae-ac00-47d1-94d5-52c98bf6e2a2-2019-10-25T040000.000Z","Epilepsy","","",""
"SCN1A","HGNC:10585","https://search.clinicalgenome.org/kb/genes/HGNC:10585","generalized epilepsy with febrile seizures plus, type 2","MONDO:0011461","https://search.clinicalgenome.org/kb/conditions/MONDO:0011461","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10585","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (05/09/2023) | Moderate Actionability (05/21/2025)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1035 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1034"," | "
"SCN1A","HGNC:10585","https://search.clinicalgenome.org/kb/genes/HGNC:10585","developmental and epileptic encephalopathy 6B","MONDO:0030268","https://search.clinicalgenome.org/kb/conditions/MONDO:0030268","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10585","Dosage Working Group","","","","Moderate Actionability (05/21/2025)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1034",""
"SCN1A","HGNC:10585","https://search.clinicalgenome.org/kb/genes/HGNC:10585","developmental and epileptic encephalopathy, 6A","MONDO:0100079","https://search.clinicalgenome.org/kb/conditions/MONDO:0100079","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10585","Dosage Working Group","","","","","",""
"SCN1B","HGNC:10586","https://search.clinicalgenome.org/kb/genes/HGNC:10586","Brugada syndrome 1","MONDO:0011001","https://search.clinicalgenome.org/kb/conditions/MONDO:0011001","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/04/2019)","0 - No Evidence for Triplosensitivity (09/04/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10586","Dosage Working Group","disputing (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10158","Brugada Syndrome","","",""
"SCN1B","HGNC:10586","https://search.clinicalgenome.org/kb/genes/HGNC:10586","generalized epilepsy with febrile seizures plus","MONDO:0018214","https://search.clinicalgenome.org/kb/conditions/MONDO:0018214","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/04/2019)","0 - No Evidence for Triplosensitivity (09/04/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10586","Dosage Working Group","definitive evidence (12/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91fb4b50-478b-4e3a-ac8a-a5cb7634a492-2022-12-13T170000.000Z","Epilepsy","","",""
"SCN1B","HGNC:10586","https://search.clinicalgenome.org/kb/genes/HGNC:10586","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (09/04/2019)","0 - No Evidence for Triplosensitivity (09/04/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10586","Dosage Working Group","definitive evidence (01/04/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4c35c20-6e59-46cf-9347-852b80af8dcc-2022-01-04T211051.949Z","Epilepsy","","",""
"SCN2A","HGNC:10588","https://search.clinicalgenome.org/kb/genes/HGNC:10588","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/22/2020)","0 - No Evidence for Triplosensitivity (04/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10588","Dosage Working Group","definitive evidence (05/07/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2a1b7361-5c9e-4803-844d-ad6606a0acdb-2019-05-07T160000.000Z","Epilepsy","","",""
"SCN2B","HGNC:10589","https://search.clinicalgenome.org/kb/genes/HGNC:10589","Brugada syndrome 1","MONDO:0011001","https://search.clinicalgenome.org/kb/conditions/MONDO:0011001","Autosomal dominant inheritance","","","","","disputing (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10159","Brugada Syndrome","","",""
"SCN3A","HGNC:10590","https://search.clinicalgenome.org/kb/genes/HGNC:10590","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","","","","","definitive evidence (05/09/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9750183-c66c-4dd8-855e-9509fc9c25c6-2022-05-09T233102.697Z","Epilepsy","","",""
"SCN3B","HGNC:20665","https://search.clinicalgenome.org/kb/genes/HGNC:20665","Brugada syndrome 1","MONDO:0011001","https://search.clinicalgenome.org/kb/conditions/MONDO:0011001","Autosomal dominant inheritance","","","","","disputing (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10160","Brugada Syndrome","","",""
"SCN4A","HGNC:10591","https://search.clinicalgenome.org/kb/genes/HGNC:10591","SCN4A-related myopathy, autosomal recessive","MONDO:0100121","https://search.clinicalgenome.org/kb/conditions/MONDO:0100121","Autosomal recessive inheritance","","","","","definitive evidence (05/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f71b22d2-1ee8-46f6-9488-a86588edd7d3-2021-05-13T160000.000Z","Congenital Myopathies","","",""
"SCN4B","HGNC:10592","https://search.clinicalgenome.org/kb/genes/HGNC:10592","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","","","","","disputing (09/25/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e276096-21ab-42bc-866a-b1b4dcb01753-2018-09-25T160000.000Z","Long QT Syndrome","","",""
"SCN5A","HGNC:10593","https://search.clinicalgenome.org/kb/genes/HGNC:10593","Brugada syndrome","MONDO:0015263","https://search.clinicalgenome.org/kb/conditions/MONDO:0015263","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/08/2021)","0 - No Evidence for Triplosensitivity (06/08/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10593","Dosage Working Group","definitive evidence (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10165","Brugada Syndrome","Strong Actionability (10/10/2019) | Strong Actionability (10/10/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC040 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC040"," | "
"SCN5A","HGNC:10593","https://search.clinicalgenome.org/kb/genes/HGNC:10593","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/08/2021)","0 - No Evidence for Triplosensitivity (06/08/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10593","Dosage Working Group","limited evidence (06/06/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c1cdce2-c8de-442d-b0c4-5936919b310f-2019-06-06T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"SCN5A","HGNC:10593","https://search.clinicalgenome.org/kb/genes/HGNC:10593","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/08/2021)","0 - No Evidence for Triplosensitivity (06/08/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10593","Dosage Working Group","definitive evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53c90d2e-4d40-48ab-8761-b0158102c977-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"SCN5A","HGNC:10593","https://search.clinicalgenome.org/kb/genes/HGNC:10593","familial long QT syndrome","MONDO:0019171","https://search.clinicalgenome.org/kb/conditions/MONDO:0019171","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/08/2021)","0 - No Evidence for Triplosensitivity (06/08/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10593","Dosage Working Group","definitive evidence (09/25/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab19e69c-50fb-41e3-8adf-4d27617f3d55-2018-09-25T160000.000Z","Long QT Syndrome","Strong Actionability (08/28/2019) | Strong Actionability (08/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC131 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC131"," | "
"SCN5A","HGNC:10593","https://search.clinicalgenome.org/kb/genes/HGNC:10593","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/08/2021)","0 - No Evidence for Triplosensitivity (06/08/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10593","Dosage Working Group","disputing (12/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a89509af-a746-4913-a100-e855f4a72998-2024-12-09T170000.000Z","Congenital Heart Disease","","",""
"SCN5A","HGNC:10593","https://search.clinicalgenome.org/kb/genes/HGNC:10593","Brugada syndrome 1","MONDO:0011001","https://search.clinicalgenome.org/kb/conditions/MONDO:0011001","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/08/2021)","0 - No Evidence for Triplosensitivity (06/08/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10593","Dosage Working Group","","","","Strong Actionability (10/10/2019) | Strong Actionability (10/10/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC040 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC040"," | "
"SCN5A","HGNC:10593","https://search.clinicalgenome.org/kb/genes/HGNC:10593","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/08/2021)","0 - No Evidence for Triplosensitivity (06/08/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10593","Dosage Working Group","","","","Strong Actionability (08/28/2019) | Strong Actionability (08/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC131 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC131"," | "
"SCN5A","HGNC:10593","https://search.clinicalgenome.org/kb/genes/HGNC:10593","long QT syndrome 3","MONDO:0011377","https://search.clinicalgenome.org/kb/conditions/MONDO:0011377","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/08/2021)","0 - No Evidence for Triplosensitivity (06/08/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10593","Dosage Working Group","","","","Strong Actionability (08/28/2019) | Strong Actionability (08/28/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC131 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC131"," | "
"SCN8A","HGNC:10596","https://search.clinicalgenome.org/kb/genes/HGNC:10596","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (02/14/2023)","0 - No Evidence for Triplosensitivity (02/14/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10596","Dosage Working Group","definitive evidence (07/18/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f52993aa-ddee-483d-b15e-dbf21608d5a9-2018-07-18T125000.560Z","Epilepsy","","",""
"SCN9A","HGNC:10597","https://search.clinicalgenome.org/kb/genes/HGNC:10597","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","","","","","refuting evidence (03/09/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_72a91ef6-e052-44a4-b14e-6a5ba93393ff-2021-03-09T163649.218Z","Epilepsy","","",""
"SCNN1A","HGNC:10599","https://search.clinicalgenome.org/kb/genes/HGNC:10599","pseudohypoaldosteronism, type IB1, autosomal recessive","MONDO:0009917","https://search.clinicalgenome.org/kb/conditions/MONDO:0009917","Autosomal recessive inheritance","","","","","strong evidence (11/18/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38f18fef-1443-4005-a358-31f7d3a96ee0-2021-11-18T013000.000Z","Tubulopathy","","",""
"SCNN1G","HGNC:10602","https://search.clinicalgenome.org/kb/genes/HGNC:10602","Liddle syndrome","MONDO:0008323","https://search.clinicalgenome.org/kb/conditions/MONDO:0008323","Autosomal dominant inheritance","","","","","definitive evidence (06/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60ce148e-eb8b-49c4-adec-ae98071f9cc2-2021-06-17T023000.000Z","Tubulopathy","","",""
"SCO1","HGNC:10603","https://search.clinicalgenome.org/kb/genes/HGNC:10603","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (02/17/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90d9d757-a45e-4d35-af68-c1345e1d8c65-2022-02-17T170000.000Z","Mitochondrial Diseases","","",""
"SCO2","HGNC:10604","https://search.clinicalgenome.org/kb/genes/HGNC:10604","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","definitive evidence (03/28/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_011dd1c7-94bb-4a70-8b95-cc25432a5ea2-2019-03-28T154245.471Z","Mitochondrial Diseases","","",""
"SCP2","HGNC:10606","https://search.clinicalgenome.org/kb/genes/HGNC:10606","sterol carrier protein 2 deficiency","MONDO:0013391","https://search.clinicalgenome.org/kb/conditions/MONDO:0013391","Autosomal recessive inheritance","","","","","definitive evidence (02/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea6abbdb-3724-4d1e-a31e-c61b0157a86a-2025-02-21T170000.000Z","Peroxisomal Disorders","","",""
"SDCCAG8","HGNC:10671","https://search.clinicalgenome.org/kb/genes/HGNC:10671","Bardet-Biedl syndrome 16","MONDO:0014444","https://search.clinicalgenome.org/kb/conditions/MONDO:0014444","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10671","Dosage Working Group","definitive evidence (08/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_515a5937-a075-4bb7-97d6-a8712720c10f-2024-08-01T160000.000Z","Retina","","",""
"SDHA","HGNC:10680","https://search.clinicalgenome.org/kb/genes/HGNC:10680","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (05/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c5801d0-5839-47d9-81cc-a53cea959b57-2019-05-20T190935.665Z","Mitochondrial Diseases","","",""
"SDHA","HGNC:10680","https://search.clinicalgenome.org/kb/genes/HGNC:10680","hereditary pheochromocytoma-paraganglioma","MONDO:0017366","https://search.clinicalgenome.org/kb/conditions/MONDO:0017366","Autosomal dominant inheritance","","","","","definitive evidence (06/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4833b4b4-071c-4062-9007-8b0f6896a54e-2021-06-17T011716.456Z","Hereditary Cancer","Moderate Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHA","HGNC:10680","https://search.clinicalgenome.org/kb/genes/HGNC:10680","paraganglioma","MONDO:0000448","https://search.clinicalgenome.org/kb/conditions/MONDO:0000448","N/A","","","","","","","","Moderate Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHA","HGNC:10680","https://search.clinicalgenome.org/kb/genes/HGNC:10680","pheochromocytoma/paraganglioma syndrome 5","MONDO:0013602","https://search.clinicalgenome.org/kb/conditions/MONDO:0013602","N/A","","","","","","","","Moderate Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHAF1","HGNC:33867","https://search.clinicalgenome.org/kb/genes/HGNC:33867","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:33867","Dosage Working Group","limited evidence (02/12/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0baf56d2-40f8-465a-9b50-22f57481a5cb-2020-02-12T201133.569Z","Mitochondrial Diseases","","",""
"SDHAF1","HGNC:33867","https://search.clinicalgenome.org/kb/genes/HGNC:33867","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:33867","Dosage Working Group","definitive evidence (12/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e421e4d0-9618-4fad-bf20-a509d8d527ed-2023-12-04T050000.000Z","Mitochondrial Diseases","","",""
"SDHAF1","HGNC:33867","https://search.clinicalgenome.org/kb/genes/HGNC:33867","mitochondrial complex II deficiency, nuclear type 1","MONDO:0100294","https://search.clinicalgenome.org/kb/conditions/MONDO:0100294","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:33867","Dosage Working Group","","","","","",""
"SDHAF2","HGNC:26034","https://search.clinicalgenome.org/kb/genes/HGNC:26034","hereditary pheochromocytoma-paraganglioma","MONDO:0017366","https://search.clinicalgenome.org/kb/conditions/MONDO:0017366","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/11/2022)","0 - No Evidence for Triplosensitivity (05/11/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26034","Dosage Working Group","definitive evidence (06/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f70f16ee-a8b5-4f81-bd98-270fda25ffa4-2021-06-17T020032.120Z","Hereditary Cancer","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHAF2","HGNC:26034","https://search.clinicalgenome.org/kb/genes/HGNC:26034","paraganglioma","MONDO:0000448","https://search.clinicalgenome.org/kb/conditions/MONDO:0000448","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/11/2022)","0 - No Evidence for Triplosensitivity (05/11/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26034","Dosage Working Group","","","","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHAF2","HGNC:26034","https://search.clinicalgenome.org/kb/genes/HGNC:26034","pheochromocytoma/paraganglioma syndrome 2","MONDO:0011121","https://search.clinicalgenome.org/kb/conditions/MONDO:0011121","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/11/2022)","0 - No Evidence for Triplosensitivity (05/11/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26034","Dosage Working Group","","","","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHB","HGNC:10681","https://search.clinicalgenome.org/kb/genes/HGNC:10681","hereditary pheochromocytoma-paraganglioma","MONDO:0017366","https://search.clinicalgenome.org/kb/conditions/MONDO:0017366","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/22/2020)","0 - No Evidence for Triplosensitivity (07/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10681","Dosage Working Group","definitive evidence (06/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5b8852d-1641-4c45-8aa2-57c2dfbac4ea-2021-06-17T012105.373Z","Hereditary Cancer","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHB","HGNC:10681","https://search.clinicalgenome.org/kb/genes/HGNC:10681","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/22/2020)","0 - No Evidence for Triplosensitivity (07/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10681","Dosage Working Group","definitive evidence (03/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53015cfb-c54a-4436-9ebd-79ae3fdbf613-2022-03-07T170000.000Z","Mitochondrial Diseases","","",""
"SDHB","HGNC:10681","https://search.clinicalgenome.org/kb/genes/HGNC:10681","pheochromocytoma","MONDO:0008233","https://search.clinicalgenome.org/kb/conditions/MONDO:0008233","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/22/2020)","0 - No Evidence for Triplosensitivity (07/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10681","Dosage Working Group","","","","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHB","HGNC:10681","https://search.clinicalgenome.org/kb/genes/HGNC:10681","pheochromocytoma/paraganglioma syndrome 4","MONDO:0007273","https://search.clinicalgenome.org/kb/conditions/MONDO:0007273","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/22/2020)","0 - No Evidence for Triplosensitivity (07/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10681","Dosage Working Group","","","","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHB","HGNC:10681","https://search.clinicalgenome.org/kb/genes/HGNC:10681","paraganglioma","MONDO:0000448","https://search.clinicalgenome.org/kb/conditions/MONDO:0000448","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/22/2020)","0 - No Evidence for Triplosensitivity (07/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10681","Dosage Working Group","","","","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHC","HGNC:10682","https://search.clinicalgenome.org/kb/genes/HGNC:10682","hereditary pheochromocytoma-paraganglioma","MONDO:0017366","https://search.clinicalgenome.org/kb/conditions/MONDO:0017366","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10682","Dosage Working Group","definitive evidence (06/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c6e49d4-8117-4fc2-88cd-aad0017ce2c4-2021-06-17T013125.314Z","Hereditary Cancer","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHC","HGNC:10682","https://search.clinicalgenome.org/kb/genes/HGNC:10682","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Mode of inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10682","Dosage Working Group","no known disease relationship (03/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_909982e0-a53c-4a87-bf28-cdb563c8ae62-2022-03-07T170000.000Z","Mitochondrial Diseases","","",""
"SDHC","HGNC:10682","https://search.clinicalgenome.org/kb/genes/HGNC:10682","pheochromocytoma/paraganglioma syndrome 3","MONDO:0011544","https://search.clinicalgenome.org/kb/conditions/MONDO:0011544","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10682","Dosage Working Group","","","","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHC","HGNC:10682","https://search.clinicalgenome.org/kb/genes/HGNC:10682","paraganglioma","MONDO:0000448","https://search.clinicalgenome.org/kb/conditions/MONDO:0000448","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2021)","0 - No Evidence for Triplosensitivity (10/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10682","Dosage Working Group","","","","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHD","HGNC:10683","https://search.clinicalgenome.org/kb/genes/HGNC:10683","hereditary pheochromocytoma-paraganglioma","MONDO:0017366","https://search.clinicalgenome.org/kb/conditions/MONDO:0017366","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/11/2021)","0 - No Evidence for Triplosensitivity (08/11/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10683","Dosage Working Group","definitive evidence (06/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9d0b732e-81e4-4834-8fe6-fe71f694399e-2021-06-17T015316.638Z","Hereditary Cancer","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHD","HGNC:10683","https://search.clinicalgenome.org/kb/genes/HGNC:10683","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/11/2021)","0 - No Evidence for Triplosensitivity (08/11/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10683","Dosage Working Group","limited evidence (04/04/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9010c629-a86c-4f55-a45b-212b7aabdb6f-2022-04-04T160000.000Z","Mitochondrial Diseases","","",""
"SDHD","HGNC:10683","https://search.clinicalgenome.org/kb/genes/HGNC:10683","pheochromocytoma/paraganglioma syndrome 1","MONDO:0008192","https://search.clinicalgenome.org/kb/conditions/MONDO:0008192","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/11/2021)","0 - No Evidence for Triplosensitivity (08/11/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10683","Dosage Working Group","","","","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHD","HGNC:10683","https://search.clinicalgenome.org/kb/genes/HGNC:10683","paraganglioma","MONDO:0000448","https://search.clinicalgenome.org/kb/conditions/MONDO:0000448","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/11/2021)","0 - No Evidence for Triplosensitivity (08/11/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10683","Dosage Working Group","","","","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SDHD","HGNC:10683","https://search.clinicalgenome.org/kb/genes/HGNC:10683","pheochromocytoma","MONDO:0008233","https://search.clinicalgenome.org/kb/conditions/MONDO:0008233","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/11/2021)","0 - No Evidence for Triplosensitivity (08/11/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10683","Dosage Working Group","","","","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"SEC23B","HGNC:10702","https://search.clinicalgenome.org/kb/genes/HGNC:10702","congenital dyserythropoietic anemia type 2","MONDO:0009134","https://search.clinicalgenome.org/kb/conditions/MONDO:0009134","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10702","Dosage Working Group","definitive evidence (11/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b6093e90-7ec2-4cdb-9323-b67df78930a3-2024-11-20T170000.000Z","Prenatal","","",""
"SEC61A1","HGNC:18276","https://search.clinicalgenome.org/kb/genes/HGNC:18276","SEC61A1 deficiency","MONDO:0100337","https://search.clinicalgenome.org/kb/conditions/MONDO:0100337","Autosomal dominant inheritance","","","","","moderate evidence (07/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ff61d15-19f9-42a2-8dc4-0a4071b562eb-2021-07-27T154837.287Z","Antibody Deficiencies GCEP","","",""
"SEC61B","HGNC:16993","https://search.clinicalgenome.org/kb/genes/HGNC:16993","SEC61B-related polycystic liver disease","MONDO:0550003","https://search.clinicalgenome.org/kb/conditions/MONDO:0550003","Autosomal dominant inheritance","","","","","limited evidence (08/23/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0fc2c7f6-caef-4f23-82ba-2360a5eb0990-2023-08-23T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"SEC63","HGNC:21082","https://search.clinicalgenome.org/kb/genes/HGNC:21082","polycystic liver disease 2","MONDO:0014860","https://search.clinicalgenome.org/kb/conditions/MONDO:0014860","Autosomal dominant inheritance","","","","","definitive evidence (09/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76312e16-e3b1-400a-8a22-4c0cca5e6918-2020-09-23T040000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"SELENBP1","HGNC:10719","https://search.clinicalgenome.org/kb/genes/HGNC:10719","extraoral halitosis due to methanethiol oxidase deficiency","MONDO:0029144","https://search.clinicalgenome.org/kb/conditions/MONDO:0029144","Autosomal recessive inheritance","","","","","moderate evidence (01/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcd063e5-93af-47d2-a59d-3fef995df556-2025-01-21T170000.000Z","Aminoacidopathy","","",""
"SELENON","HGNC:15999","https://search.clinicalgenome.org/kb/genes/HGNC:15999","SELENON-related myopathy","MONDO:0100100","https://search.clinicalgenome.org/kb/conditions/MONDO:0100100","Autosomal recessive inheritance","","","","","definitive evidence (04/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7485529e-a573-4a47-aa0f-7c0d7067ae49-2020-04-27T190000.000Z","Congenital Myopathies","","",""
"SEM1","HGNC:10845","https://search.clinicalgenome.org/kb/genes/HGNC:10845","split hand-foot malformation 1 with sensorineural hearing loss","MONDO:0009080","https://search.clinicalgenome.org/kb/conditions/MONDO:0009080","N/A","0 - No Evidence for Haploinsufficiency (05/14/2012)","0 - No Evidence for Triplosensitivity (05/14/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10845","Dosage Working Group","","","","","",""
"SEMA4A","HGNC:10729","https://search.clinicalgenome.org/kb/genes/HGNC:10729","Lynch syndrome","MONDO:0005835","https://search.clinicalgenome.org/kb/conditions/MONDO:0005835","Autosomal dominant inheritance","","","","","disputing (03/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af6942d6-a886-4ef0-a979-bce7a971e111-2024-03-22T170000.000Z","Hereditary Cancer","","",""
"SEMA6B","HGNC:10739","https://search.clinicalgenome.org/kb/genes/HGNC:10739","progressive myoclonus epilepsy","MONDO:0020074","https://search.clinicalgenome.org/kb/conditions/MONDO:0020074","Autosomal dominant inheritance","","","","","definitive evidence (01/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dc080017-6a01-4da0-a9f5-e89710890a4c-2025-01-21T170000.000Z","Epilepsy","","",""
"SEPSECS","HGNC:30605","https://search.clinicalgenome.org/kb/genes/HGNC:30605","pontocerebellar hypoplasia type 2D","MONDO:0013438","https://search.clinicalgenome.org/kb/conditions/MONDO:0013438","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30605","Dosage Working Group","","","","","",""
"SEPTIN9","HGNC:7323","https://search.clinicalgenome.org/kb/genes/HGNC:7323","neuralgic amyotrophy","MONDO:0017362","https://search.clinicalgenome.org/kb/conditions/MONDO:0017362","Autosomal dominant inheritance","","","","","moderate evidence (08/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d2bb3b1-6fd0-4ee9-8273-322c33597eff-2023-08-16T160000.000Z","Charcot-Marie-Tooth","","",""
"SERAC1","HGNC:21061","https://search.clinicalgenome.org/kb/genes/HGNC:21061","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21061","Dosage Working Group","definitive evidence (01/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf6861ce-e13a-42c9-a4ff-942a83874bfd-2021-01-14T213356.750Z","Mitochondrial Diseases","","",""
"SERAC1","HGNC:21061","https://search.clinicalgenome.org/kb/genes/HGNC:21061","3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome","MONDO:0013875","https://search.clinicalgenome.org/kb/conditions/MONDO:0013875","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21061","Dosage Working Group","","","","","",""
"SERPINA1","HGNC:8941","https://search.clinicalgenome.org/kb/genes/HGNC:8941","alpha 1-antitrypsin deficiency","MONDO:0013282","https://search.clinicalgenome.org/kb/conditions/MONDO:0013282","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (05/09/2017)","0 - No Evidence for Triplosensitivity (05/09/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8941","Dosage Working Group","","","","Moderate Actionability (08/26/2024) | Moderate Actionability (08/26/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC093 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC093"," | "
"SERPINB6","HGNC:8950","https://search.clinicalgenome.org/kb/genes/HGNC:8950","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8950","Dosage Working Group","moderate evidence (11/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b84c49a8-3b02-4e07-a0c7-80394c0cf991-2022-11-22T170000.000Z","Hearing Loss","","",""
"SERPINB6","HGNC:8950","https://search.clinicalgenome.org/kb/genes/HGNC:8950","autosomal recessive nonsyndromic hearing loss 91","MONDO:0013269","https://search.clinicalgenome.org/kb/conditions/MONDO:0013269","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8950","Dosage Working Group","","","","","",""
"SERPINB7","HGNC:13902","https://search.clinicalgenome.org/kb/genes/HGNC:13902","palmoplantar keratoderma, Nagashima type","MONDO:0014272","https://search.clinicalgenome.org/kb/conditions/MONDO:0014272","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (11/13/2014)","0 - No Evidence for Triplosensitivity (11/13/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13902","Dosage Working Group","","","","","",""
"SERPINC1","HGNC:775","https://search.clinicalgenome.org/kb/genes/HGNC:775","hereditary antithrombin deficiency","MONDO:0013144","https://search.clinicalgenome.org/kb/conditions/MONDO:0013144","Semidominant inheritance","","","","","definitive evidence (02/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dd6376b1-1593-461f-bfc8-cec5cfb1c3f8-2020-02-26T170000.000Z","Hemostasis Thrombosis","","",""
"SERPIND1","HGNC:4838","https://search.clinicalgenome.org/kb/genes/HGNC:4838","heparin cofactor 2 deficiency","MONDO:0012876","https://search.clinicalgenome.org/kb/conditions/MONDO:0012876","Autosomal dominant inheritance","","","","","definitive evidence (11/18/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0888745c-f1e6-4af7-bdcd-bd229f043f07-2020-11-18T170000.000Z","Hemostasis Thrombosis","","",""
"SERPINE1","HGNC:8583","https://search.clinicalgenome.org/kb/genes/HGNC:8583","congenital plasminogen activator inhibitor type 1 deficiency","MONDO:0013227","https://search.clinicalgenome.org/kb/conditions/MONDO:0013227","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8583","Dosage Working Group","definitive evidence (11/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33baf899-f63b-42ed-b2fd-689cca44a7b6-2023-11-06T170000.000Z","Hemostasis Thrombosis","","",""
"SERPINF1","HGNC:8824","https://search.clinicalgenome.org/kb/genes/HGNC:8824","osteogenesis imperfecta type 6","MONDO:0013515","https://search.clinicalgenome.org/kb/conditions/MONDO:0013515","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8824","Dosage Working Group","","","","","",""
"SERPINF2","HGNC:9075","https://search.clinicalgenome.org/kb/genes/HGNC:9075","alpha-2-plasmin inhibitor deficiency","MONDO:0009883","https://search.clinicalgenome.org/kb/conditions/MONDO:0009883","Autosomal recessive inheritance","","","","","definitive evidence (09/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8fa2353-ff89-41f1-b030-bde64517edbb-2020-09-23T160000.000Z","Hemostasis Thrombosis","","",""
"SERPING1","HGNC:1228","https://search.clinicalgenome.org/kb/genes/HGNC:1228","hereditary angioedema with C1Inh deficiency","MONDO:0033946","https://search.clinicalgenome.org/kb/conditions/MONDO:0033946","Autosomal dominant inheritance","","","","","definitive evidence (12/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb571a69-47a6-4e28-a837-b9df492526c9-2022-12-15T170000.000Z","Antibody Deficiencies GCEP","","",""
"SERPINI1","HGNC:8943","https://search.clinicalgenome.org/kb/genes/HGNC:8943","progressive myoclonus epilepsy","MONDO:0020074","https://search.clinicalgenome.org/kb/conditions/MONDO:0020074","Autosomal dominant inheritance","","","","","definitive evidence (06/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b31db78-6595-440d-a3f1-b3b5ca361611-2022-06-05T190000.000Z","Epilepsy","","",""
"SET","HGNC:10760","https://search.clinicalgenome.org/kb/genes/HGNC:10760","intellectual disability","MONDO:0001071","https://search.clinicalgenome.org/kb/conditions/MONDO:0001071","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/22/2025)","0 - No Evidence for Triplosensitivity (01/22/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10760","Dosage Working Group","definitive evidence (11/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4d7c9aa2-0a9a-4359-af98-6097cc6a3b91-2021-11-17T170000.000Z","Intellectual Disability and Autism","","",""
"SETBP1","HGNC:15573","https://search.clinicalgenome.org/kb/genes/HGNC:15573","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/23/2018)","0 - No Evidence for Triplosensitivity (05/23/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15573","Dosage Working Group","definitive evidence (10/20/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70505ca8-8869-4fa9-9965-fc8e03a19b28-2020-10-20T160000.000Z","Intellectual Disability and Autism","","",""
"SETBP1","HGNC:15573","https://search.clinicalgenome.org/kb/genes/HGNC:15573","Schinzel-Giedion syndrome","MONDO:0010010","https://search.clinicalgenome.org/kb/conditions/MONDO:0010010","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/23/2018)","0 - No Evidence for Triplosensitivity (05/23/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15573","Dosage Working Group","definitive evidence (02/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_71885c03-b578-4baf-a17c-4817349eaf36-2021-02-16T170000.000Z","Intellectual Disability and Autism","","",""
"SETBP1","HGNC:15573","https://search.clinicalgenome.org/kb/genes/HGNC:15573","intellectual disability, autosomal dominant 29","MONDO:0014482","https://search.clinicalgenome.org/kb/conditions/MONDO:0014482","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/23/2018)","0 - No Evidence for Triplosensitivity (05/23/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15573","Dosage Working Group","","","","","",""
"SETD1A","HGNC:29010","https://search.clinicalgenome.org/kb/genes/HGNC:29010","schizophrenia","MONDO:0005090","https://search.clinicalgenome.org/kb/conditions/MONDO:0005090","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/28/2018)","0 - No Evidence for Triplosensitivity (02/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29010","Dosage Working Group","","","","","",""
"SETD1B","HGNC:29187","https://search.clinicalgenome.org/kb/genes/HGNC:29187","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/28/2024)","0 - No Evidence for Triplosensitivity (08/28/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29187","Dosage Working Group","definitive evidence (08/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44c7e8ef-e3f7-483e-87bb-7de1c11637d4-2024-08-20T160000.000Z","Intellectual Disability and Autism","","",""
"SETD2","HGNC:18420","https://search.clinicalgenome.org/kb/genes/HGNC:18420","SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth","MONDO:0800477","https://search.clinicalgenome.org/kb/conditions/MONDO:0800477","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/08/2022)","0 - No Evidence for Triplosensitivity (03/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18420","Dosage Working Group","definitive evidence (10/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8d0235a-b48e-4609-8c61-09586a83d1f2-2023-10-03T220000.000Z","Intellectual Disability and Autism","","",""
"SETD2","HGNC:18420","https://search.clinicalgenome.org/kb/genes/HGNC:18420","SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome","MONDO:0035706","https://search.clinicalgenome.org/kb/conditions/MONDO:0035706","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/08/2022)","0 - No Evidence for Triplosensitivity (03/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18420","Dosage Working Group","strong evidence (10/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12443e12-a359-40fb-afbf-b334e9b87b1d-2023-10-03T220000.000Z","Intellectual Disability and Autism","","",""
"SETD2","HGNC:18420","https://search.clinicalgenome.org/kb/genes/HGNC:18420","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","3 - Sufficient Evidence for Haploinsufficiency (03/08/2022)","0 - No Evidence for Triplosensitivity (03/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18420","Dosage Working Group","","","","","",""
"SETD5","HGNC:25566","https://search.clinicalgenome.org/kb/genes/HGNC:25566","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/06/2014)","0 - No Evidence for Triplosensitivity (11/06/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25566","Dosage Working Group","definitive evidence (07/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0964426-ce53-46d4-87bb-e1eba4ac25ed-2023-07-27T180000.000Z","Intellectual Disability and Autism","","",""
"SETD5","HGNC:25566","https://search.clinicalgenome.org/kb/genes/HGNC:25566","intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency","MONDO:0014336","https://search.clinicalgenome.org/kb/conditions/MONDO:0014336","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/06/2014)","0 - No Evidence for Triplosensitivity (11/06/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25566","Dosage Working Group","","","","","",""
"SETX","HGNC:445","https://search.clinicalgenome.org/kb/genes/HGNC:445","distal hereditary motor neuropathy","MONDO:0018894","https://search.clinicalgenome.org/kb/conditions/MONDO:0018894","Autosomal dominant inheritance","","","","","definitive evidence (08/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f355b8f-1cd9-401c-8f34-b9b3e2fe939b-2022-08-03T160000.000Z","Charcot-Marie-Tooth","","",""
"SF3B4","HGNC:10771","https://search.clinicalgenome.org/kb/genes/HGNC:10771","SF3B4-related acrofacial dysostosis","MONDO:0800483","https://search.clinicalgenome.org/kb/conditions/MONDO:0800483","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/17/2014)","0 - No Evidence for Triplosensitivity (07/17/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10771","Dosage Working Group","definitive evidence (05/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1dd38d7-8eac-460d-bcc1-c884cd503455-2023-05-18T040000.000Z","Craniofacial Malformations","","",""
"SF3B4","HGNC:10771","https://search.clinicalgenome.org/kb/genes/HGNC:10771","Nager acrofacial dysostosis","MONDO:0007943","https://search.clinicalgenome.org/kb/conditions/MONDO:0007943","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/17/2014)","0 - No Evidence for Triplosensitivity (07/17/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10771","Dosage Working Group","","","","","",""
"SFTPA1","HGNC:10798","https://search.clinicalgenome.org/kb/genes/HGNC:10798","interstitial lung disease 1","MONDO:0030608","https://search.clinicalgenome.org/kb/conditions/MONDO:0030608","Autosomal dominant inheritance","","","","","moderate evidence (01/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3c3d8e40-6ec1-4fb0-8a30-ce4f1e33dbdf-2025-01-28T170000.000Z","Interstitial Lung Disease","","",""
"SFTPB","HGNC:10801","https://search.clinicalgenome.org/kb/genes/HGNC:10801","surfactant metabolism dysfunction, pulmonary, 1","MONDO:0009929","https://search.clinicalgenome.org/kb/conditions/MONDO:0009929","Autosomal recessive inheritance","","","","","definitive evidence (10/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4bfa265f-3b7a-4091-8e97-b13a7f4f2de7-2024-10-17T190000.000Z","Interstitial Lung Disease","","",""
"SFTPC","HGNC:10802","https://search.clinicalgenome.org/kb/genes/HGNC:10802","SFTPC-related interstitial lung disease","MONDO:0018603","https://search.clinicalgenome.org/kb/conditions/MONDO:0018603","Autosomal dominant inheritance","","","","","definitive evidence (07/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1e252c5-e5d1-478a-ae5f-35ad591939e5-2024-07-16T160000.000Z","Interstitial Lung Disease","","",""
"SFXN4","HGNC:16088","https://search.clinicalgenome.org/kb/genes/HGNC:16088","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (11/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02ff9212-9668-4899-bdc9-b726564aeefe-2023-11-20T170000.000Z","Mitochondrial Diseases","","",""
"SGCA","HGNC:10805","https://search.clinicalgenome.org/kb/genes/HGNC:10805","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","","","","","definitive evidence (11/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e60e8b70-857e-4dae-bc45-da7db0dd5bf1-2024-11-14T170000.000Z","Muscular Dystrophies and Myopathies","","",""
"SGCB","HGNC:10806","https://search.clinicalgenome.org/kb/genes/HGNC:10806","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","","","","","definitive evidence (11/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c90753f2-8252-400f-b7b3-9d0b04e1e12c-2024-11-14T170000.000Z","Muscular Dystrophies and Myopathies","","",""
"SGCD","HGNC:10807","https://search.clinicalgenome.org/kb/genes/HGNC:10807","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","","","","","definitive evidence (11/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ad12a23-af71-4b3b-8a79-831b4d338c97-2024-11-14T170000.000Z","Muscular Dystrophies and Myopathies","","",""
"SGCD","HGNC:10807","https://search.clinicalgenome.org/kb/genes/HGNC:10807","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","no known disease relationship (03/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59326e1b-5cc1-4dfe-8d67-3379aa305c40-2025-03-28T160000.000Z","Dilated Cardiomyopathy","","",""
"SGCE","HGNC:10808","https://search.clinicalgenome.org/kb/genes/HGNC:10808","myoclonic dystonia 11","MONDO:0008044","https://search.clinicalgenome.org/kb/conditions/MONDO:0008044","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/11/2021)","0 - No Evidence for Triplosensitivity (11/11/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10808","Dosage Working Group","","","","","",""
"SGCG","HGNC:10809","https://search.clinicalgenome.org/kb/genes/HGNC:10809","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10809","Dosage Working Group","definitive evidence (11/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dc0d70af-ecb5-4755-a840-9e8bb6f4e0a7-2024-11-14T170000.000Z","Muscular Dystrophies and Myopathies","","",""
"SGCG","HGNC:10809","https://search.clinicalgenome.org/kb/genes/HGNC:10809","autosomal recessive limb-girdle muscular dystrophy type 2C","MONDO:0009677","https://search.clinicalgenome.org/kb/conditions/MONDO:0009677","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10809","Dosage Working Group","","","","","",""
"SGPL1","HGNC:10817","https://search.clinicalgenome.org/kb/genes/HGNC:10817","nephrotic syndrome 14","MONDO:0033203","https://search.clinicalgenome.org/kb/conditions/MONDO:0033203","Autosomal recessive inheritance","","","","","definitive evidence (09/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ba9aea8b-0361-46c5-af9d-e45eba0723d7-2024-09-18T160000.000Z","Prenatal","","",""
"SGSH","HGNC:10818","https://search.clinicalgenome.org/kb/genes/HGNC:10818","mucopolysaccharidosis type 3A","MONDO:0009655","https://search.clinicalgenome.org/kb/conditions/MONDO:0009655","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/12/2015)","0 - No Evidence for Triplosensitivity (02/12/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10818","Dosage Working Group","definitive evidence (06/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_438dab6d-abf4-44e8-a176-bb39ae128052-2022-06-15T160000.000Z","Lysosomal Diseases GCEP","","",""
"SH2D1A","HGNC:10820","https://search.clinicalgenome.org/kb/genes/HGNC:10820","X-linked lymphoproliferative disease due to SH2D1A deficiency","MONDO:0024551","https://search.clinicalgenome.org/kb/conditions/MONDO:0024551","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/27/2021)","0 - No Evidence for Triplosensitivity (01/27/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10820","Dosage Working Group","definitive evidence (10/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_84424550-05f1-438f-92d4-86ec7437a41c-2025-10-14T010000.000Z","Primary Immune Regulatory Disorders","","",""
"SH3KBP1","HGNC:13867","https://search.clinicalgenome.org/kb/genes/HGNC:13867","immunodeficiency 61","MONDO:0010296","https://search.clinicalgenome.org/kb/conditions/MONDO:0010296","X-linked inheritance","","","","","limited evidence (11/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3cc42cdd-5484-467b-9e35-7529716114dd-2021-11-16T170000.000Z","Antibody Deficiencies GCEP","","",""
"SH3PXD2B","HGNC:29242","https://search.clinicalgenome.org/kb/genes/HGNC:29242","Frank-Ter Haar syndrome","MONDO:0009579","https://search.clinicalgenome.org/kb/conditions/MONDO:0009579","Autosomal recessive inheritance","","","","","definitive evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_08691232-1885-49df-a3fb-b0ed8ef88a56-2023-05-30T160000.000Z","Syndromic Disorders","","",""
"SH3TC2","HGNC:29427","https://search.clinicalgenome.org/kb/genes/HGNC:29427","obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy","MONDO:0015361","https://search.clinicalgenome.org/kb/conditions/MONDO:0015361","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29427","Dosage Working Group","definitive evidence (02/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d2b214f-3086-4012-bf4b-a6e651618f0b-2022-02-10T020711.223Z","Charcot-Marie-Tooth","","",""
"SH3TC2","HGNC:29427","https://search.clinicalgenome.org/kb/genes/HGNC:29427","Charcot-Marie-Tooth disease type 4C","MONDO:0011113","https://search.clinicalgenome.org/kb/conditions/MONDO:0011113","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29427","Dosage Working Group","","","","","",""
"SHANK1","HGNC:15474","https://search.clinicalgenome.org/kb/genes/HGNC:15474","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (03/11/2025)","0 - No Evidence for Triplosensitivity (03/11/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15474","Dosage Working Group","definitive evidence (03/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57f9ab85-914e-4eec-ae66-efc80d612ef8-2024-03-20T040000.000Z","Intellectual Disability and Autism","","",""
"SHANK2","HGNC:14295","https://search.clinicalgenome.org/kb/genes/HGNC:14295","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/26/2023)","0 - No Evidence for Triplosensitivity (10/26/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14295","Dosage Working Group","definitive evidence (07/17/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_911cb9ff-e68e-4b47-8639-f6a63ab11b3e-2019-07-17T100000.000Z","Intellectual Disability and Autism","","",""
"SHANK3","HGNC:14294","https://search.clinicalgenome.org/kb/genes/HGNC:14294","Phelan-McDermid syndrome","MONDO:0011652","https://search.clinicalgenome.org/kb/conditions/MONDO:0011652","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/14/2018)","0 - No Evidence for Triplosensitivity (08/14/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14294","Dosage Working Group","definitive evidence (12/12/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e941703a-0f30-4f4c-a997-bc3b4295f289-2018-12-12T110000.000Z","Intellectual Disability and Autism","","",""
"SHH","HGNC:10848","https://search.clinicalgenome.org/kb/genes/HGNC:10848","holoprosencephaly 3","MONDO:0007733","https://search.clinicalgenome.org/kb/conditions/MONDO:0007733","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/24/2020)","0 - No Evidence for Triplosensitivity (06/24/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10848","Dosage Working Group","","","","","",""
"SHMT2","HGNC:10852","https://search.clinicalgenome.org/kb/genes/HGNC:10852","neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities","MONDO:0030866","https://search.clinicalgenome.org/kb/conditions/MONDO:0030866","Autosomal recessive inheritance","","","","","limited evidence (07/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf0af939-9015-47dd-bbcd-192114220334-2024-07-12T160000.000Z","Aminoacidopathy","","",""
"SHOC2","HGNC:15454","https://search.clinicalgenome.org/kb/genes/HGNC:15454","Costello syndrome","MONDO:0009026","https://search.clinicalgenome.org/kb/conditions/MONDO:0009026","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/25/2018)","0 - No Evidence for Triplosensitivity (09/25/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15454","Dosage Working Group","disputing (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7035ea3-d556-4aa4-b525-5ed6c02866df-2018-07-24T160000.000Z","RASopathy","","",""
"SHOC2","HGNC:15454","https://search.clinicalgenome.org/kb/genes/HGNC:15454","cardiofaciocutaneous syndrome","MONDO:0015280","https://search.clinicalgenome.org/kb/conditions/MONDO:0015280","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/25/2018)","0 - No Evidence for Triplosensitivity (09/25/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15454","Dosage Working Group","disputing (06/01/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd8e5069-4023-4763-9b41-03350b03ee7f-2018-06-01T160000.000Z","RASopathy","","",""
"SHOC2","HGNC:15454","https://search.clinicalgenome.org/kb/genes/HGNC:15454","Noonan syndrome-like disorder with loose anagen hair","MONDO:0011899","https://search.clinicalgenome.org/kb/conditions/MONDO:0011899","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/25/2018)","0 - No Evidence for Triplosensitivity (09/25/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15454","Dosage Working Group","definitive evidence (07/25/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ecc1335-fb21-4d65-8df2-19558e8f5c07-2018-07-25T160000.000Z","RASopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/01/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/01/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1026 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1026"," | "
"SHOC2","HGNC:15454","https://search.clinicalgenome.org/kb/genes/HGNC:15454","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/25/2018)","0 - No Evidence for Triplosensitivity (09/25/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15454","Dosage Working Group","disputing (05/31/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_185c93c8-e875-46a2-83af-a8575b19a228-2018-05-31T160000.000Z","RASopathy","","",""
"SHOC2","HGNC:15454","https://search.clinicalgenome.org/kb/genes/HGNC:15454","Noonan syndrome-like disorder with loose anagen hair 1","MONDO:0054637","https://search.clinicalgenome.org/kb/conditions/MONDO:0054637","N/A","0 - No Evidence for Haploinsufficiency (09/25/2018)","0 - No Evidence for Triplosensitivity (09/25/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15454","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/01/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/01/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1026 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1026"," | "
"SHOX","HGNC:10853","https://search.clinicalgenome.org/kb/genes/HGNC:10853","Leri-Weill dyschondrosteosis","MONDO:0007481","https://search.clinicalgenome.org/kb/conditions/MONDO:0007481","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/15/2015)","0 - No Evidence for Triplosensitivity (10/15/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10853","Dosage Working Group","","","","","",""
"SHROOM4","HGNC:29215","https://search.clinicalgenome.org/kb/genes/HGNC:29215","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","0 - No Evidence for Haploinsufficiency (10/10/2012)","0 - No Evidence for Triplosensitivity (10/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29215","Dosage Working Group","disputing (01/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a94d20f8-9909-48b2-9860-d17c6dc73ec3-2021-01-13T170000.000Z","Intellectual Disability and Autism","","",""
"SI","HGNC:10856","https://search.clinicalgenome.org/kb/genes/HGNC:10856","congenital sucrase-isomaltase deficiency","MONDO:0009114","https://search.clinicalgenome.org/kb/conditions/MONDO:0009114","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10856","Dosage Working Group","","","","","",""
"SIK1","HGNC:11142","https://search.clinicalgenome.org/kb/genes/HGNC:11142","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","","","","","limited evidence (05/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd76888e-9502-48f3-af06-56f1ae5ed975-2024-05-07T170000.000Z","Epilepsy","","",""
"SIL1","HGNC:24624","https://search.clinicalgenome.org/kb/genes/HGNC:24624","Marinesco-Sjogren syndrome","MONDO:0009567","https://search.clinicalgenome.org/kb/conditions/MONDO:0009567","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/23/2021)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24624","Dosage Working Group","definitive evidence (12/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3511d4dd-48bc-4d93-9b86-16bf46fabc5d-2023-12-05T170000.000Z","Lysosomal Diseases GCEP","","",""
"SIN3A","HGNC:19353","https://search.clinicalgenome.org/kb/genes/HGNC:19353","SIN3A-related intellectual disability syndrome","MONDO:0044699","https://search.clinicalgenome.org/kb/conditions/MONDO:0044699","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/13/2020)","0 - No Evidence for Triplosensitivity (01/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19353","Dosage Working Group","definitive evidence (01/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c6bb2ed-0912-4d60-9faa-39be27ecf4c7-2022-01-19T070000.000Z","Intellectual Disability and Autism","","",""
"SIN3A","HGNC:19353","https://search.clinicalgenome.org/kb/genes/HGNC:19353","chromosome 15q24 deletion syndrome","MONDO:0013256","https://search.clinicalgenome.org/kb/conditions/MONDO:0013256","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/13/2020)","0 - No Evidence for Triplosensitivity (01/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19353","Dosage Working Group","","","","","",""
"SIRT1","HGNC:14929","https://search.clinicalgenome.org/kb/genes/HGNC:14929","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Autosomal dominant inheritance","","","","","limited evidence (04/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1d943a5-34a8-450a-8fbe-078b473f2bfd-2025-04-18T160000.000Z","Monogenic Diabetes","","",""
"SIX1","HGNC:10887","https://search.clinicalgenome.org/kb/genes/HGNC:10887","branchio-oto-renal syndrome","MONDO:0007029","https://search.clinicalgenome.org/kb/conditions/MONDO:0007029","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/22/2012)","0 - No Evidence for Triplosensitivity (03/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10887","Dosage Working Group","definitive evidence (06/22/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2587f3b-52e1-4765-a9ac-82d8cc5ae45b-2017-06-22T160000.000Z","Hearing Loss","","",""
"SIX3","HGNC:10889","https://search.clinicalgenome.org/kb/genes/HGNC:10889","holoprosencephaly 2","MONDO:0007999","https://search.clinicalgenome.org/kb/conditions/MONDO:0007999","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/23/2020)","0 - No Evidence for Triplosensitivity (09/23/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10889","Dosage Working Group","","","","","",""
"SIX5","HGNC:10891","https://search.clinicalgenome.org/kb/genes/HGNC:10891","branchio-oto-renal syndrome","MONDO:0007029","https://search.clinicalgenome.org/kb/conditions/MONDO:0007029","Autosomal dominant inheritance","","","","","disputing (01/16/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0667561f-aa48-4ad5-b4ff-45aac933b255-2018-01-16T170000.000Z","Hearing Loss","","",""
"SKI","HGNC:10896","https://search.clinicalgenome.org/kb/genes/HGNC:10896","Shprintzen-Goldberg syndrome","MONDO:0008426","https://search.clinicalgenome.org/kb/conditions/MONDO:0008426","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (01/06/2012)","0 - No Evidence for Triplosensitivity (01/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10896","Dosage Working Group","definitive evidence (07/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_019ffb7a-be5f-482d-9adf-e28d5aadaede-2024-07-23T160000.000Z","Craniofacial Malformations","","",""
"SKIC2","HGNC:10898","https://search.clinicalgenome.org/kb/genes/HGNC:10898","trichohepatoenteric syndrome 2","MONDO:0013818","https://search.clinicalgenome.org/kb/conditions/MONDO:0013818","Autosomal recessive inheritance","","","","","definitive evidence (04/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_53d69181-61b3-4393-ae46-bd68307a98f1-2024-04-23T160000.000Z","Syndromic Disorders","","",""
"SKIC3","HGNC:23639","https://search.clinicalgenome.org/kb/genes/HGNC:23639","trichohepatoenteric syndrome 1","MONDO:0024541","https://search.clinicalgenome.org/kb/conditions/MONDO:0024541","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23639","Dosage Working Group","definitive evidence (04/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e528747-17dd-4c07-95cb-de05ad840740-2024-04-23T160000.000Z","Syndromic Disorders","","",""
"SLC11A2","HGNC:10908","https://search.clinicalgenome.org/kb/genes/HGNC:10908","microcytic anemia with liver iron overload","MONDO:0008787","https://search.clinicalgenome.org/kb/conditions/MONDO:0008787","Autosomal recessive inheritance","","","","","definitive evidence (04/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aff3ef34-58dc-4f1d-97fb-09100330865b-2025-04-25T160000.000Z","General Inborn Errors of Metabolism","","",""
"SLC12A1","HGNC:10910","https://search.clinicalgenome.org/kb/genes/HGNC:10910","obsolete antenatal Bartter syndrome","MONDO:0100343","https://search.clinicalgenome.org/kb/conditions/MONDO:0100343","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/28/2012)","0 - No Evidence for Triplosensitivity (04/28/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10910","Dosage Working Group","definitive evidence (04/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d40afee-7e1a-410e-a88f-cfbc227bdc62-2022-04-21T180000.000Z","Tubulopathy","","",""
"SLC12A1","HGNC:10910","https://search.clinicalgenome.org/kb/genes/HGNC:10910","Bartter disease type 1","MONDO:0100344","https://search.clinicalgenome.org/kb/conditions/MONDO:0100344","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (04/28/2012)","0 - No Evidence for Triplosensitivity (04/28/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10910","Dosage Working Group","","","","","",""
"SLC12A3","HGNC:10912","https://search.clinicalgenome.org/kb/genes/HGNC:10912","Gitelman syndrome","MONDO:0009904","https://search.clinicalgenome.org/kb/conditions/MONDO:0009904","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (02/23/2012)","0 - No Evidence for Triplosensitivity (02/23/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10912","Dosage Working Group","","","","","",""
"SLC12A5","HGNC:13818","https://search.clinicalgenome.org/kb/genes/HGNC:13818","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","","","","","limited evidence (03/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_768a3318-a75d-412a-91e6-78d51609ac3e-2023-03-07T170000.000Z","Epilepsy","","",""
"SLC12A7","HGNC:10915","https://search.clinicalgenome.org/kb/genes/HGNC:10915","renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss","MONDO:0009968","https://search.clinicalgenome.org/kb/conditions/MONDO:0009968","Mode of inheritance","","","","","no known disease relationship (09/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f2aabf8-acc7-4faf-9742-e201a19d5138-2024-09-19T160000.000Z","Tubulopathy","","",""
"SLC13A5","HGNC:23089","https://search.clinicalgenome.org/kb/genes/HGNC:23089","developmental and epileptic encephalopathy, 25","MONDO:0014392","https://search.clinicalgenome.org/kb/conditions/MONDO:0014392","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23089","Dosage Working Group","","","","","",""
"SLC16A12","HGNC:23094","https://search.clinicalgenome.org/kb/genes/HGNC:23094","juvenile cataract-microcornea-renal glucosuria syndrome","MONDO:0012786","https://search.clinicalgenome.org/kb/conditions/MONDO:0012786","N/A","1 - Little Evidence for Haploinsufficiency (12/21/2011)","0 - No Evidence for Triplosensitivity (12/21/2011)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23094","Dosage Working Group","","","","","",""
"SLC16A2","HGNC:10923","https://search.clinicalgenome.org/kb/genes/HGNC:10923","Allan-Herndon-Dudley syndrome","MONDO:0010354","https://search.clinicalgenome.org/kb/conditions/MONDO:0010354","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/28/2012)","0 - No Evidence for Triplosensitivity (06/28/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10923","Dosage Working Group","definitive evidence (08/09/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9242e32-a339-4426-8ef5-39df0960d390-2018-08-09T100000.000Z","Intellectual Disability and Autism","","",""
"SLC17A5","HGNC:10933","https://search.clinicalgenome.org/kb/genes/HGNC:10933","free sialic acid storage disease","MONDO:0019366","https://search.clinicalgenome.org/kb/conditions/MONDO:0019366","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10933","Dosage Working Group","definitive evidence (10/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfa5a3e8-f0f5-4cd8-93b4-0f81ceab1f6a-2023-10-30T040000.000Z","Lysosomal Diseases GCEP","","",""
"SLC17A8","HGNC:20151","https://search.clinicalgenome.org/kb/genes/HGNC:20151","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (02/08/2022)","0 - No Evidence for Triplosensitivity (02/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20151","Dosage Working Group","definitive evidence (06/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c399400-090a-4b2e-93ff-0c4915ce81c7-2023-06-01T160000.000Z","Hearing Loss","","",""
"SLC17A8","HGNC:20151","https://search.clinicalgenome.org/kb/genes/HGNC:20151","autosomal dominant nonsyndromic hearing loss","MONDO:0019587","https://search.clinicalgenome.org/kb/conditions/MONDO:0019587","N/A","1 - Little Evidence for Haploinsufficiency (02/08/2022)","0 - No Evidence for Triplosensitivity (02/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20151","Dosage Working Group","","","","","",""
"SLC18A2","HGNC:10935","https://search.clinicalgenome.org/kb/genes/HGNC:10935","brain dopamine-serotonin vesicular transport disease","MONDO:0018130","https://search.clinicalgenome.org/kb/conditions/MONDO:0018130","Autosomal recessive inheritance","","","","","definitive evidence (10/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_502e9100-4bae-498c-9fcc-4ce745a5d2ae-2024-10-15T160000.000Z","General Inborn Errors of Metabolism","","",""
"SLC19A1","HGNC:10937","https://search.clinicalgenome.org/kb/genes/HGNC:10937","immunodeficiency 114, folate-responsive","MONDO:0957955","https://search.clinicalgenome.org/kb/conditions/MONDO:0957955","Autosomal recessive inheritance","","","","","limited evidence (09/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90119a3d-be3f-42bd-9ce2-24731b29bca9-2025-09-16T160000.000Z","Primary Immune Regulatory Disorders","","",""
"SLC19A3","HGNC:16266","https://search.clinicalgenome.org/kb/genes/HGNC:16266","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","definitive evidence (01/14/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3907183-4cb2-4df7-bace-ecc1821b3acc-2019-01-14T170000.000Z","Mitochondrial Diseases","","",""
"SLC1A1","HGNC:10939","https://search.clinicalgenome.org/kb/genes/HGNC:10939","dicarboxylic aminoaciduria","MONDO:0009110","https://search.clinicalgenome.org/kb/conditions/MONDO:0009110","Autosomal recessive inheritance","","","","","limited evidence (12/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd6cc720-f37b-4abf-a887-8701ac805343-2022-12-12T170000.000Z","Aminoacidopathy","","",""
"SLC1A2","HGNC:10940","https://search.clinicalgenome.org/kb/genes/HGNC:10940","developmental and epileptic encephalopathy, 41","MONDO:0014916","https://search.clinicalgenome.org/kb/conditions/MONDO:0014916","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (09/11/2025)","0 - No Evidence for Triplosensitivity (09/11/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10940","Dosage Working Group","definitive evidence (10/29/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ebb83674-206f-461b-b98e-e12420208deb-2020-10-29T160000.000Z","Aminoacidopathy","","",""
"SLC1A2","HGNC:10940","https://search.clinicalgenome.org/kb/genes/HGNC:10940","developmental and epileptic encephalopathy","MONDO:0100620","https://search.clinicalgenome.org/kb/conditions/MONDO:0100620","N/A","1 - Little Evidence for Haploinsufficiency (09/11/2025)","0 - No Evidence for Triplosensitivity (09/11/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10940","Dosage Working Group","","","","","",""
"SLC1A3","HGNC:10941","https://search.clinicalgenome.org/kb/genes/HGNC:10941","episodic ataxia type 6","MONDO:0012982","https://search.clinicalgenome.org/kb/conditions/MONDO:0012982","Autosomal dominant inheritance","","","","","definitive evidence (10/09/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3bcae41b-3438-4e82-8f29-83cca7f142f0-2020-10-09T160000.000Z","Aminoacidopathy","","",""
"SLC1A4","HGNC:10942","https://search.clinicalgenome.org/kb/genes/HGNC:10942","spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome","MONDO:0014725","https://search.clinicalgenome.org/kb/conditions/MONDO:0014725","Autosomal recessive inheritance","","","","","definitive evidence (05/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cff4bb6-caab-4696-a061-1f9a40c56c80-2021-05-14T160000.000Z","Aminoacidopathy","","",""
"SLC22A4","HGNC:10968","https://search.clinicalgenome.org/kb/genes/HGNC:10968","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","Autosomal recessive inheritance","","","","","limited evidence (09/23/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a0bbbf84-878a-4863-a82c-14012e61d8f4-2025-09-23T160000.000Z","Hearing Loss","","",""
"SLC22A5","HGNC:10969","https://search.clinicalgenome.org/kb/genes/HGNC:10969","systemic primary carnitine deficiency disease","MONDO:0008919","https://search.clinicalgenome.org/kb/conditions/MONDO:0008919","Autosomal recessive inheritance","","","","","definitive evidence (04/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2beee8a9-193c-41ca-92c4-484c8e034b02-2018-04-24T160000.000Z","Fatty Acid Oxidation Disorders","Strong Actionability (05/02/2022) | Moderate Actionability (05/02/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1047 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1047"," | "
"SLC22A5","HGNC:10969","https://search.clinicalgenome.org/kb/genes/HGNC:10969","short QT syndrome","MONDO:0000453","https://search.clinicalgenome.org/kb/conditions/MONDO:0000453","Autosomal recessive inheritance","","","","","disputing (08/03/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b23b9707-bb3c-423d-b68e-54c57b991db6-2020-08-03T160000.000Z","Short QT Syndrome","","",""
"SLC24A1","HGNC:10975","https://search.clinicalgenome.org/kb/genes/HGNC:10975","inherited retinal dystrophy","MONDO:0019118","https://search.clinicalgenome.org/kb/conditions/MONDO:0019118","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10975","Dosage Working Group","definitive evidence (09/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3071ba1a-21c2-46a7-a5e9-bc53c015c7a9-2024-09-05T160000.000Z","Retina","","",""
"SLC24A1","HGNC:10975","https://search.clinicalgenome.org/kb/genes/HGNC:10975","congenital stationary night blindness 1D","MONDO:0013450","https://search.clinicalgenome.org/kb/conditions/MONDO:0013450","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10975","Dosage Working Group","","","","","",""
"SLC25A1","HGNC:10979","https://search.clinicalgenome.org/kb/genes/HGNC:10979","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10979","Dosage Working Group","definitive evidence (12/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_efd22051-13dc-49ed-b8cd-ded1d67f2bf1-2023-12-18T170000.000Z","Mitochondrial Diseases","","",""
"SLC25A1","HGNC:10979","https://search.clinicalgenome.org/kb/genes/HGNC:10979","D,L-2-hydroxyglutaric aciduria","MONDO:0014072","https://search.clinicalgenome.org/kb/conditions/MONDO:0014072","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10979","Dosage Working Group","","","","","",""
"SLC25A10","HGNC:10980","https://search.clinicalgenome.org/kb/genes/HGNC:10980","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","limited evidence (11/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ef30bfb-3f90-48f7-ac02-c8286461dfc0-2023-11-20T050000.000Z","Mitochondrial Diseases","","",""
"SLC25A12","HGNC:10982","https://search.clinicalgenome.org/kb/genes/HGNC:10982","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (01/19/2012)","0 - No Evidence for Triplosensitivity (01/19/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10982","Dosage Working Group","moderate evidence (08/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47bba424-b4e3-4216-aae0-2a4602bc2e92-2023-08-21T160000.000Z","Mitochondrial Diseases","","",""
"SLC25A13","HGNC:10983","https://search.clinicalgenome.org/kb/genes/HGNC:10983","citrin deficiency","MONDO:0016602","https://search.clinicalgenome.org/kb/conditions/MONDO:0016602","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10983","Dosage Working Group","definitive evidence (07/23/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc373b9e-ec5e-4471-92a1-bbdd9aa3378c-2021-07-23T220742.579Z","Aminoacidopathy","Moderate Actionability (08/12/2024) | Moderate Actionability (08/12/2024)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC118 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC118"," | "
"SLC25A13","HGNC:10983","https://search.clinicalgenome.org/kb/genes/HGNC:10983","citrullinemia type II","MONDO:0016603","https://search.clinicalgenome.org/kb/conditions/MONDO:0016603","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10983","Dosage Working Group","","","","Moderate Actionability (08/12/2024) | Moderate Actionability (08/12/2024)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC118 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC118"," | "
"SLC25A13","HGNC:10983","https://search.clinicalgenome.org/kb/genes/HGNC:10983","citrullinemia, type II, adult-onset","MONDO:0011326","https://search.clinicalgenome.org/kb/conditions/MONDO:0011326","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10983","Dosage Working Group","","","","Moderate Actionability (08/12/2024)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC118",""
"SLC25A13","HGNC:10983","https://search.clinicalgenome.org/kb/genes/HGNC:10983","adult-onset citrullinemia type I","MONDO:0016601","https://search.clinicalgenome.org/kb/conditions/MONDO:0016601","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10983","Dosage Working Group","","","","Moderate Actionability (08/12/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC118",""
"SLC25A13","HGNC:10983","https://search.clinicalgenome.org/kb/genes/HGNC:10983","neonatal intrahepatic cholestasis due to citrin deficiency","MONDO:0011601","https://search.clinicalgenome.org/kb/conditions/MONDO:0011601","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10983","Dosage Working Group","","","","","",""
"SLC25A15","HGNC:10985","https://search.clinicalgenome.org/kb/genes/HGNC:10985","ornithine translocase deficiency","MONDO:0009393","https://search.clinicalgenome.org/kb/conditions/MONDO:0009393","Autosomal recessive inheritance","","","","","definitive evidence (12/04/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5cb32c9-d506-484f-b023-1c4f17ef0d93-2019-12-04T170000.000Z","Aminoacidopathy","Moderate Actionability (02/12/2024) | Moderate Actionability (02/12/2024)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1052 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1052"," | "
"SLC25A19","HGNC:14409","https://search.clinicalgenome.org/kb/genes/HGNC:14409","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14409","Dosage Working Group","limited evidence (08/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ae17da7-86b0-4aba-a401-de1ccb6ecb83-2020-08-27T162850.918Z","Mitochondrial Diseases","","",""
"SLC25A19","HGNC:14409","https://search.clinicalgenome.org/kb/genes/HGNC:14409","thiamine-responsive dysfunction syndrome","MONDO:0000152","https://search.clinicalgenome.org/kb/conditions/MONDO:0000152","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14409","Dosage Working Group","","","","","",""
"SLC25A20","HGNC:1421","https://search.clinicalgenome.org/kb/genes/HGNC:1421","carnitine-acylcarnitine translocase deficiency","MONDO:0008918","https://search.clinicalgenome.org/kb/conditions/MONDO:0008918","Autosomal recessive inheritance","","","","","definitive evidence (05/22/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95c9aece-49b5-496f-9547-f6d03dd69b4f-2018-05-22T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"SLC25A22","HGNC:19954","https://search.clinicalgenome.org/kb/genes/HGNC:19954","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","","","","","definitive evidence (05/19/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9a7ba06-6ddf-4a94-a0df-0b6c164f72b9-2020-05-19T160000.000Z","Epilepsy","","",""
"SLC25A26","HGNC:20661","https://search.clinicalgenome.org/kb/genes/HGNC:20661","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (07/31/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e91c575-34b9-4142-8492-5fbbdb95066f-2023-07-31T160000.000Z","Mitochondrial Diseases","","",""
"SLC25A3","HGNC:10989","https://search.clinicalgenome.org/kb/genes/HGNC:10989","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (07/24/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0fc01e9-4239-45e6-8680-9b8566283337-2023-07-24T040000.000Z","Mitochondrial Diseases","","",""
"SLC25A4","HGNC:10990","https://search.clinicalgenome.org/kb/genes/HGNC:10990","mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive","MONDO:0014175","https://search.clinicalgenome.org/kb/conditions/MONDO:0014175","Autosomal recessive inheritance","","","","","definitive evidence (08/30/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10062","Hypertrophic Cardiomyopathy","","",""
"SLC25A4","HGNC:10990","https://search.clinicalgenome.org/kb/genes/HGNC:10990","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal dominant inheritance","","","","","limited evidence (06/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0a6890a4-e2d5-4895-956d-3f3103ec6a2b-2021-06-14T151738.675Z","Mitochondrial Diseases","","",""
"SLC25A46","HGNC:25198","https://search.clinicalgenome.org/kb/genes/HGNC:25198","neuropathy, hereditary motor and sensory, type 6B","MONDO:0014671","https://search.clinicalgenome.org/kb/conditions/MONDO:0014671","Autosomal recessive inheritance","","","","","definitive evidence (05/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9852fb40-0df1-4668-ba57-38a4971cb244-2020-05-26T160000.000Z","Charcot-Marie-Tooth","","",""
"SLC25A46","HGNC:25198","https://search.clinicalgenome.org/kb/genes/HGNC:25198","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (08/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e456b6d-7a9b-42d2-ab51-0531f5184b41-2020-08-27T163757.565Z","Mitochondrial Diseases","","",""
"SLC26A2","HGNC:10994","https://search.clinicalgenome.org/kb/genes/HGNC:10994","SLC26A2-related skeletal dysplasia","MONDO:0100592","https://search.clinicalgenome.org/kb/conditions/MONDO:0100592","Autosomal recessive inheritance","","","","","definitive evidence (08/03/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_48af0749-5b01-4feb-b3a0-9d08cb8e7235-2020-08-03T160000.000Z","Skeletal Disorders","","",""
"SLC26A4","HGNC:8818","https://search.clinicalgenome.org/kb/genes/HGNC:8818","Pendred syndrome","MONDO:0010134","https://search.clinicalgenome.org/kb/conditions/MONDO:0010134","Autosomal recessive inheritance","","","","","definitive evidence (06/07/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49e794f4-8725-4499-a0a2-82591b42cab5-2017-06-07T040000.000Z","Hearing Loss","Moderate Actionability (01/12/2021) | Has Insufficient Evidence for Actionability Based on Expert Review (01/12/2021)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1019 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1019"," | "
"SLC26A5","HGNC:9359","https://search.clinicalgenome.org/kb/genes/HGNC:9359","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","limited evidence (01/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f835f34-fe68-49a8-9399-bccebba540d4-2022-01-26T204254.928Z","Hearing Loss","","",""
"SLC29A3","HGNC:23096","https://search.clinicalgenome.org/kb/genes/HGNC:23096","H syndrome","MONDO:0011273","https://search.clinicalgenome.org/kb/conditions/MONDO:0011273","Autosomal recessive inheritance","","","","","definitive evidence (05/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cdde7d77-09cc-4ef2-99eb-f9acd8c8df04-2024-05-07T040000.000Z","Lysosomal Diseases GCEP","","",""
"SLC2A1","HGNC:11005","https://search.clinicalgenome.org/kb/genes/HGNC:11005","GLUT1 deficiency syndrome","MONDO:0000188","https://search.clinicalgenome.org/kb/conditions/MONDO:0000188","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/24/2016)","0 - No Evidence for Triplosensitivity (03/24/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11005","Dosage Working Group","definitive evidence (04/18/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a20a0bc0-49d5-41fc-9507-cec19a43bd81-2019-04-18T123454.696Z","Intellectual Disability and Autism","Has Insufficient Evidence for Actionability Based on Early Rule-out (08/04/2023) | Strong Actionability (03/21/2024)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1036 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1036"," | "
"SLC2A1","HGNC:11005","https://search.clinicalgenome.org/kb/genes/HGNC:11005","childhood onset GLUT1 deficiency syndrome 2","MONDO:0012805","https://search.clinicalgenome.org/kb/conditions/MONDO:0012805","N/A","3 - Sufficient Evidence for Haploinsufficiency (03/24/2016)","0 - No Evidence for Triplosensitivity (03/24/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11005","Dosage Working Group","","","","","",""
"SLC2A10","HGNC:13444","https://search.clinicalgenome.org/kb/genes/HGNC:13444","arterial tortuosity syndrome","MONDO:0008818","https://search.clinicalgenome.org/kb/conditions/MONDO:0008818","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/01/2018)","0 - No Evidence for Triplosensitivity (02/01/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13444","Dosage Working Group","definitive evidence (11/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80a24753-e6d3-41cb-85ba-85a2eae3ddb6-2024-11-07T170000.000Z","Hereditary Cardiovascular Disease","Moderate Actionability (10/18/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC147",""
"SLC30A10","HGNC:25355","https://search.clinicalgenome.org/kb/genes/HGNC:25355","cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome","MONDO:0013208","https://search.clinicalgenome.org/kb/conditions/MONDO:0013208","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25355","Dosage Working Group","","","","","",""
"SLC30A2","HGNC:11013","https://search.clinicalgenome.org/kb/genes/HGNC:11013","zinc deficiency, transient neonatal","MONDO:0011973","https://search.clinicalgenome.org/kb/conditions/MONDO:0011973","Autosomal dominant inheritance","","","","","definitive evidence (01/24/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c4bde390-ff71-42de-949c-2ebd37f18b1a-2025-01-24T050000.000Z","General Inborn Errors of Metabolism","","",""
"SLC30A9","HGNC:1329","https://search.clinicalgenome.org/kb/genes/HGNC:1329","psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome","MONDO:0044726","https://search.clinicalgenome.org/kb/conditions/MONDO:0044726","Autosomal recessive inheritance","","","","","definitive evidence (03/14/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f068a626-3d4b-47dd-94f9-d7ac8430274f-2025-03-14T160000.000Z","General Inborn Errors of Metabolism","","",""
"SLC34A1","HGNC:11019","https://search.clinicalgenome.org/kb/genes/HGNC:11019","Fanconi renotubular syndrome 2","MONDO:0013247","https://search.clinicalgenome.org/kb/conditions/MONDO:0013247","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11019","Dosage Working Group","disputing (09/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c8aec2b2-9433-4f9f-8015-5f3dd46369d0-2022-09-06T143000.000Z","Tubulopathy","","",""
"SLC34A1","HGNC:11019","https://search.clinicalgenome.org/kb/genes/HGNC:11019","hypercalcemia, infantile, 2","MONDO:0014851","https://search.clinicalgenome.org/kb/conditions/MONDO:0014851","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11019","Dosage Working Group","definitive evidence (10/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b164a17-9f7b-43b2-88b2-2adb8e458c08-2022-10-19T133000.000Z","Tubulopathy","","",""
"SLC34A2","HGNC:11020","https://search.clinicalgenome.org/kb/genes/HGNC:11020","pulmonary alveolar microlithiasis","MONDO:0009928","https://search.clinicalgenome.org/kb/conditions/MONDO:0009928","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11020","Dosage Working Group","","","","","",""
"SLC35A2","HGNC:11022","https://search.clinicalgenome.org/kb/genes/HGNC:11022","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/24/2018)","0 - No Evidence for Triplosensitivity (01/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11022","Dosage Working Group","definitive evidence (04/23/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e8173aea-692d-4f50-aca4-228e3df16e80-2021-04-23T160000.000Z","Epilepsy","","",""
"SLC35A2","HGNC:11022","https://search.clinicalgenome.org/kb/genes/HGNC:11022","SLC35A2-congenital disorder of glycosylation","MONDO:0010478","https://search.clinicalgenome.org/kb/conditions/MONDO:0010478","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/24/2018)","0 - No Evidence for Triplosensitivity (01/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11022","Dosage Working Group","","","","","",""
"SLC35C1","HGNC:20197","https://search.clinicalgenome.org/kb/genes/HGNC:20197","leukocyte adhesion deficiency type II","MONDO:0009953","https://search.clinicalgenome.org/kb/conditions/MONDO:0009953","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20197","Dosage Working Group","","","","","",""
"SLC35D1","HGNC:20800","https://search.clinicalgenome.org/kb/genes/HGNC:20800","schneckenbecken dysplasia","MONDO:0010013","https://search.clinicalgenome.org/kb/conditions/MONDO:0010013","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/11/2016)","0 - No Evidence for Triplosensitivity (04/11/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20800","Dosage Working Group","definitive evidence (12/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4ee94dfc-b68e-4a26-ab68-7af456b9d826-2024-12-23T170000.000Z","Prenatal","","",""
"SLC36A2","HGNC:18762","https://search.clinicalgenome.org/kb/genes/HGNC:18762","iminoglycinuria","MONDO:0009448","https://search.clinicalgenome.org/kb/conditions/MONDO:0009448","Autosomal recessive inheritance","","","","","limited evidence (04/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38341e13-b026-4a61-a049-5f7ef9df1805-2024-04-11T160000.000Z","Aminoacidopathy","","",""
"SLC37A4","HGNC:4061","https://search.clinicalgenome.org/kb/genes/HGNC:4061","glycogen storage disease I","MONDO:0002413","https://search.clinicalgenome.org/kb/conditions/MONDO:0002413","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4061","Dosage Working Group","","","","","",""
"SLC38A8","HGNC:32434","https://search.clinicalgenome.org/kb/genes/HGNC:32434","foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome","MONDO:0012216","https://search.clinicalgenome.org/kb/conditions/MONDO:0012216","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:32434","Dosage Working Group","definitive evidence (02/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5eb4abb6-392a-4ded-9a3e-79aaea763377-2023-02-10T170000.000Z","Aminoacidopathy","","",""
"SLC38A9","HGNC:26907","https://search.clinicalgenome.org/kb/genes/HGNC:26907","lysosomal storage disease","MONDO:0002561","https://search.clinicalgenome.org/kb/conditions/MONDO:0002561","Mode of inheritance","","","","","no known disease relationship (08/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34c72694-90be-4ba1-a876-4f77562e7e72-2022-08-02T160000.000Z","Lysosomal Diseases GCEP","","",""
"SLC39A13","HGNC:20859","https://search.clinicalgenome.org/kb/genes/HGNC:20859","Ehlers-Danlos syndrome, spondylocheirodysplastic type","MONDO:0012873","https://search.clinicalgenome.org/kb/conditions/MONDO:0012873","Autosomal recessive inheritance","","","","","definitive evidence (10/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_50b48dba-c9ab-4377-b3a2-348c93426aa4-2024-10-25T040000.000Z","General Inborn Errors of Metabolism","","",""
"SLC39A4","HGNC:17129","https://search.clinicalgenome.org/kb/genes/HGNC:17129","acrodermatitis enteropathica","MONDO:0008713","https://search.clinicalgenome.org/kb/conditions/MONDO:0008713","Autosomal recessive inheritance","","","","","definitive evidence (09/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ba5370e-bfdd-4341-8486-b49e1e2eb4af-2024-09-13T040000.000Z","General Inborn Errors of Metabolism","Strong Actionability (07/09/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC005",""
"SLC39A7","HGNC:4927","https://search.clinicalgenome.org/kb/genes/HGNC:4927","agammaglobulinemia","MONDO:0015977","https://search.clinicalgenome.org/kb/conditions/MONDO:0015977","Autosomal recessive inheritance","","","","","moderate evidence (09/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69ebdc60-2bdd-4020-9d20-7c0ea0fd3cdd-2021-09-21T130638.465Z","Antibody Deficiencies GCEP","","",""
"SLC39A8","HGNC:20862","https://search.clinicalgenome.org/kb/genes/HGNC:20862","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (11/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fddaae4-d982-49e7-9e83-b84d15f3cf2c-2020-11-23T195104.867Z","Mitochondrial Diseases","","",""
"SLC3A1","HGNC:11025","https://search.clinicalgenome.org/kb/genes/HGNC:11025","cystinuria","MONDO:0009067","https://search.clinicalgenome.org/kb/conditions/MONDO:0009067","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (03/21/2012)","0 - No Evidence for Triplosensitivity (03/21/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11025","Dosage Working Group","definitive evidence (06/29/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbde8280-d4bc-47e8-8f3d-aed8bb05e22e-2020-06-29T174347.853Z","Aminoacidopathy","","",""
"SLC41A1","HGNC:19429","https://search.clinicalgenome.org/kb/genes/HGNC:19429","kidney disorder","MONDO:0005240","https://search.clinicalgenome.org/kb/conditions/MONDO:0005240","Autosomal recessive inheritance","","","","","limited evidence (05/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1a853a0-854a-4b61-8b12-eaf8edeabee7-2022-05-11T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"SLC44A4","HGNC:13941","https://search.clinicalgenome.org/kb/genes/HGNC:13941","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","limited evidence (11/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ddbe083-55c3-483b-8c32-fc9bdbef10c6-2022-11-22T170000.000Z","Hearing Loss","","",""
"SLC4A10","HGNC:13811","https://search.clinicalgenome.org/kb/genes/HGNC:13811","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal recessive inheritance","1 - Little Evidence for Haploinsufficiency (04/11/2012)","0 - No Evidence for Triplosensitivity (04/11/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13811","Dosage Working Group","strong evidence (12/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9fe612c6-134c-43ef-b3b5-bb1bd66b4d70-2024-12-17T170000.000Z","Epilepsy","","",""
"SLC4A3","HGNC:11029","https://search.clinicalgenome.org/kb/genes/HGNC:11029","short QT syndrome","MONDO:0000453","https://search.clinicalgenome.org/kb/conditions/MONDO:0000453","Autosomal dominant inheritance","","","","","moderate evidence (08/03/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5f6fcca-f8a9-47c2-bae9-a72df92f3bd1-2020-08-03T160000.000Z","Short QT Syndrome","","",""
"SLC52A1","HGNC:30225","https://search.clinicalgenome.org/kb/genes/HGNC:30225","maternal riboflavin deficiency","MONDO:0014013","https://search.clinicalgenome.org/kb/conditions/MONDO:0014013","Autosomal dominant inheritance","","","","","moderate evidence (04/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f44e2049-ade2-464c-a4e5-eaf851252082-2024-04-25T160000.000Z","Fatty Acid Oxidation Disorders","","",""
"SLC52A2","HGNC:30224","https://search.clinicalgenome.org/kb/genes/HGNC:30224","Brown-Vialetto-van Laere syndrome 2","MONDO:0013867","https://search.clinicalgenome.org/kb/conditions/MONDO:0013867","Autosomal recessive inheritance","","","","","definitive evidence (09/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a500078-4cd5-49db-b22e-c5628ee07304-2023-09-04T160000.000Z","Hearing Loss","","",""
"SLC52A3","HGNC:16187","https://search.clinicalgenome.org/kb/genes/HGNC:16187","Brown-Vialetto-van Laere syndrome 1","MONDO:0024537","https://search.clinicalgenome.org/kb/conditions/MONDO:0024537","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16187","Dosage Working Group","definitive evidence (09/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0ae82e2-4c39-45b2-ba2d-6fe2570dbcfc-2023-09-04T160000.000Z","Hearing Loss","","",""
"SLC5A1","HGNC:11036","https://search.clinicalgenome.org/kb/genes/HGNC:11036","glucose-galactose malabsorption","MONDO:0011731","https://search.clinicalgenome.org/kb/conditions/MONDO:0011731","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11036","Dosage Working Group","","","","","",""
"SLC5A7","HGNC:14025","https://search.clinicalgenome.org/kb/genes/HGNC:14025","neuronopathy, distal hereditary motor, type 7A","MONDO:0008024","https://search.clinicalgenome.org/kb/conditions/MONDO:0008024","Autosomal dominant inheritance","","","","","moderate evidence (11/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6e46608-98f5-4e4d-9bcf-22e42997af6e-2021-11-20T022003.630Z","Charcot-Marie-Tooth","","",""
"SLC6A1","HGNC:11042","https://search.clinicalgenome.org/kb/genes/HGNC:11042","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/25/2019)","0 - No Evidence for Triplosensitivity (09/25/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11042","Dosage Working Group","","","","","",""
"SLC6A19","HGNC:27960","https://search.clinicalgenome.org/kb/genes/HGNC:27960","Hartnup disease","MONDO:0009324","https://search.clinicalgenome.org/kb/conditions/MONDO:0009324","Autosomal recessive inheritance","","","","","definitive evidence (05/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44c34762-450b-4abd-8fe4-3f17ff700630-2020-05-07T160000.000Z","Aminoacidopathy","","",""
"SLC6A3","HGNC:11049","https://search.clinicalgenome.org/kb/genes/HGNC:11049","SLC6A3-related dopamine transporter deficiency syndrome","MONDO:0700117","https://search.clinicalgenome.org/kb/conditions/MONDO:0700117","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11049","Dosage Working Group","definitive evidence (01/09/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb7a8001-1bc9-4cdf-bb99-1979737bda79-2023-01-09T170000.000Z","General Inborn Errors of Metabolism","","",""
"SLC6A3","HGNC:11049","https://search.clinicalgenome.org/kb/genes/HGNC:11049","classic dopamine transporter deficiency syndrome","MONDO:0054835","https://search.clinicalgenome.org/kb/conditions/MONDO:0054835","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11049","Dosage Working Group","","","","","",""
"SLC6A4","HGNC:11050","https://search.clinicalgenome.org/kb/genes/HGNC:11050","autism spectrum disorder","MONDO:0005258","https://search.clinicalgenome.org/kb/conditions/MONDO:0005258","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (05/11/2012)","0 - No Evidence for Triplosensitivity (05/11/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11050","Dosage Working Group","disputing (01/06/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cc4b0612-0a53-4e36-b737-5c0f49a387a1-2021-01-06T170000.000Z","Intellectual Disability and Autism","","",""
"SLC6A6","HGNC:11052","https://search.clinicalgenome.org/kb/genes/HGNC:11052","hypotaurinemic retinal degeneration and cardiomyopathy","MONDO:0007777","https://search.clinicalgenome.org/kb/conditions/MONDO:0007777","Autosomal recessive inheritance","","","","","limited evidence (03/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26addf7f-70f5-432d-abb1-0c21e297b0fd-2023-03-10T170000.000Z","Aminoacidopathy","","",""
"SLC6A8","HGNC:11055","https://search.clinicalgenome.org/kb/genes/HGNC:11055","creatine transporter deficiency","MONDO:0010305","https://search.clinicalgenome.org/kb/conditions/MONDO:0010305","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/10/2020)","0 - No Evidence for Triplosensitivity (11/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11055","Dosage Working Group","definitive evidence (02/10/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3795f0ae-7668-47b8-b69e-9c686b82bd0a-2020-02-10T170000.000Z","Aminoacidopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/19/2022) | Limited Actionability (11/28/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1037 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1037"," | "
"SLC6A8","HGNC:11055","https://search.clinicalgenome.org/kb/genes/HGNC:11055","cerebral creatine deficiency syndrome","MONDO:0000456","https://search.clinicalgenome.org/kb/conditions/MONDO:0000456","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/10/2020)","0 - No Evidence for Triplosensitivity (11/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11055","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (09/19/2022) | Limited Actionability (11/28/2023)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1037 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1037"," | "
"SLC6A9","HGNC:11056","https://search.clinicalgenome.org/kb/genes/HGNC:11056","atypical glycine encephalopathy","MONDO:0015010","https://search.clinicalgenome.org/kb/conditions/MONDO:0015010","Autosomal recessive inheritance","","","","","definitive evidence (07/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da54b125-0bd7-461f-9094-e72b2a97818a-2025-07-25T040000.000Z","Aminoacidopathy","","",""
"SLC7A5","HGNC:11063","https://search.clinicalgenome.org/kb/genes/HGNC:11063","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal recessive inheritance","","","","","moderate evidence (11/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8aa71559-4759-4254-b15e-4cbc4a7cbe13-2023-11-27T063000.000Z","Intellectual Disability and Autism","","",""
"SLC7A7","HGNC:11065","https://search.clinicalgenome.org/kb/genes/HGNC:11065","lysinuric protein intolerance","MONDO:0009109","https://search.clinicalgenome.org/kb/conditions/MONDO:0009109","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11065","Dosage Working Group","definitive evidence (11/08/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_207778e3-aff9-427d-ae87-f68fd938af88-2019-11-08T170000.000Z","Aminoacidopathy","","",""
"SLC7A9","HGNC:11067","https://search.clinicalgenome.org/kb/genes/HGNC:11067","cystinuria","MONDO:0009067","https://search.clinicalgenome.org/kb/conditions/MONDO:0009067","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/23/2021)","0 - No Evidence for Triplosensitivity (08/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11067","Dosage Working Group","definitive evidence (06/29/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8e706c5-4b10-4c8a-b5ab-dda8545f464a-2020-06-29T174426.491Z","Aminoacidopathy","","",""
"SLC9A1","HGNC:11071","https://search.clinicalgenome.org/kb/genes/HGNC:11071","Lichtenstein-Knorr syndrome","MONDO:0014572","https://search.clinicalgenome.org/kb/conditions/MONDO:0014572","Autosomal recessive inheritance","","","","","moderate evidence (07/09/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1333b89-1442-460f-9fab-11e7b4322117-2025-07-09T160000.000Z","Cerebellar Ataxia","","",""
"SLC9A6","HGNC:11079","https://search.clinicalgenome.org/kb/genes/HGNC:11079","Christianson syndrome","MONDO:0010278","https://search.clinicalgenome.org/kb/conditions/MONDO:0010278","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/08/2020)","0 - No Evidence for Triplosensitivity (12/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11079","Dosage Working Group","definitive evidence (05/02/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d97fc8d-e744-449a-939c-386895c121cd-2018-05-02T160000.000Z","Rett and Angelman-like Disorders","","",""
"SLC9A9","HGNC:20653","https://search.clinicalgenome.org/kb/genes/HGNC:20653","autism spectrum disorder","MONDO:0005258","https://search.clinicalgenome.org/kb/conditions/MONDO:0005258","Autosomal dominant inheritance","","","","","disputing (10/08/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_463ee005-1264-45da-bd85-3776a6637c68-2020-10-08T160000.000Z","Intellectual Disability and Autism","","",""
"SLFN14","HGNC:32689","https://search.clinicalgenome.org/kb/genes/HGNC:32689","platelet-type bleeding disorder 20","MONDO:0014830","https://search.clinicalgenome.org/kb/conditions/MONDO:0014830","Autosomal dominant inheritance","","","","","moderate evidence (06/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f31ec838-fc84-47a2-9341-1fe494788a09-2025-06-16T160000.000Z","Hemostasis Thrombosis","","",""
"SLITRK6","HGNC:23503","https://search.clinicalgenome.org/kb/genes/HGNC:23503","high myopia-sensorineural deafness syndrome","MONDO:0009082","https://search.clinicalgenome.org/kb/conditions/MONDO:0009082","Autosomal recessive inheritance","","","","","definitive evidence (04/21/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9b9e41c-1b12-4159-9729-8de648e747b0-2020-04-21T211522.429Z","Hearing Loss","","",""
"SLMAP","HGNC:16643","https://search.clinicalgenome.org/kb/genes/HGNC:16643","Brugada syndrome","MONDO:0015263","https://search.clinicalgenome.org/kb/conditions/MONDO:0015263","Autosomal dominant inheritance","","","","","disputing (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10163","Brugada Syndrome","","",""
"SLURP1","HGNC:18746","https://search.clinicalgenome.org/kb/genes/HGNC:18746","mal de Meleda","MONDO:0009552","https://search.clinicalgenome.org/kb/conditions/MONDO:0009552","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (06/08/2017)","0 - No Evidence for Triplosensitivity (06/08/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18746","Dosage Working Group","","","","","",""
"SLX4","HGNC:23845","https://search.clinicalgenome.org/kb/genes/HGNC:23845","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","","","","","no known disease relationship (03/08/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8705","Breast/Ovarian Cancer","","",""
"SLX4","HGNC:23845","https://search.clinicalgenome.org/kb/genes/HGNC:23845","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","","","","","refuting evidence (12/21/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4acc26ec-2174-4b21-bb02-965ae3539062-2023-12-21T180000.000Z","Hereditary Cancer","","",""
"SLX4","HGNC:23845","https://search.clinicalgenome.org/kb/genes/HGNC:23845","Fanconi anemia complementation group P","MONDO:0013499","https://search.clinicalgenome.org/kb/conditions/MONDO:0013499","Autosomal recessive inheritance","","","","","definitive evidence (10/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab56e51d-64d2-49ba-a927-ab04e4a1e254-2023-10-27T170000.000Z","Hereditary Cancer","","",""
"SMAD1","HGNC:6767","https://search.clinicalgenome.org/kb/genes/HGNC:6767","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","disputing (11/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_804f2eeb-7328-45c2-947b-cb9c4da0fecc-2022-11-21T170000.000Z","Pulmonary Hypertension","","",""
"SMAD1","HGNC:6767","https://search.clinicalgenome.org/kb/genes/HGNC:6767","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (05/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_44a6fa0b-b6e7-422e-9d01-b74aad2a8b29-2024-05-13T160000.000Z","Congenital Heart Disease","","",""
"SMAD2","HGNC:6768","https://search.clinicalgenome.org/kb/genes/HGNC:6768","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (06/29/2018)","0 - No Evidence for Triplosensitivity (06/29/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6768","Dosage Working Group","definitive evidence (11/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5e0055af-46d4-42c2-93fa-f3c4d238b3d4-2023-11-06T170000.000Z","Congenital Heart Disease","","",""
"SMAD2","HGNC:6768","https://search.clinicalgenome.org/kb/genes/HGNC:6768","Loeys-Dietz syndrome 6","MONDO:0030500","https://search.clinicalgenome.org/kb/conditions/MONDO:0030500","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (06/29/2018)","0 - No Evidence for Triplosensitivity (06/29/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6768","Dosage Working Group","definitive evidence (08/01/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c32835d3-af61-4b05-902c-d17b406beef6-2025-08-01T160000.000Z","Hereditary Cardiovascular Disease","","",""
"SMAD3","HGNC:6769","https://search.clinicalgenome.org/kb/genes/HGNC:6769","aneurysm-osteoarthritis syndrome","MONDO:0013426","https://search.clinicalgenome.org/kb/conditions/MONDO:0013426","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/22/2020)","0 - No Evidence for Triplosensitivity (04/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6769","Dosage Working Group","definitive evidence (12/01/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3210","General Gene Curation","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC067 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC067"," | "
"SMAD3","HGNC:6769","https://search.clinicalgenome.org/kb/genes/HGNC:6769","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/22/2020)","0 - No Evidence for Triplosensitivity (04/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6769","Dosage Working Group","definitive evidence (12/22/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8253","Heritable Thoracic Aortic Aneurysm and Dissection","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC134 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC134"," | "
"SMAD3","HGNC:6769","https://search.clinicalgenome.org/kb/genes/HGNC:6769","Loeys-Dietz syndrome","MONDO:0018954","https://search.clinicalgenome.org/kb/conditions/MONDO:0018954","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/22/2020)","0 - No Evidence for Triplosensitivity (04/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6769","Dosage Working Group","","","","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC067 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC067"," | "
"SMAD4","HGNC:6770","https://search.clinicalgenome.org/kb/genes/HGNC:6770","juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome","MONDO:0008278","https://search.clinicalgenome.org/kb/conditions/MONDO:0008278","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/16/2020)","0 - No Evidence for Triplosensitivity (12/16/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6770","Dosage Working Group","definitive evidence (04/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b9b79d0f-4259-49d7-882d-4ca23bb7e8cf-2023-04-18T160000.000Z","Hemostasis Thrombosis","Moderate Actionability (10/17/2022) | Strong Actionability (10/17/2022) | Moderate Actionability (08/26/2022) | Strong Actionability (08/26/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC066 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC066 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC107 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC107"," |  |  | "
"SMAD4","HGNC:6770","https://search.clinicalgenome.org/kb/genes/HGNC:6770","Myhre syndrome","MONDO:0007688","https://search.clinicalgenome.org/kb/conditions/MONDO:0007688","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/16/2020)","0 - No Evidence for Triplosensitivity (12/16/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6770","Dosage Working Group","definitive evidence (12/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5a082cc-c214-4bfa-8cb8-caead239d129-2021-12-30T170000.000Z","Intellectual Disability and Autism","","",""
"SMAD4","HGNC:6770","https://search.clinicalgenome.org/kb/genes/HGNC:6770","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/16/2020)","0 - No Evidence for Triplosensitivity (12/16/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6770","Dosage Working Group","disputing (11/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12d82f9f-8ab2-4012-a5d5-20de99f23c07-2022-11-21T170000.000Z","Pulmonary Hypertension","","",""
"SMAD4","HGNC:6770","https://search.clinicalgenome.org/kb/genes/HGNC:6770","generalized juvenile polyposis/juvenile polyposis coli","MONDO:0008276","https://search.clinicalgenome.org/kb/conditions/MONDO:0008276","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/16/2020)","0 - No Evidence for Triplosensitivity (12/16/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6770","Dosage Working Group","","","","Moderate Actionability (10/17/2022) | Strong Actionability (10/17/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC066 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC066"," | "
"SMAD4","HGNC:6770","https://search.clinicalgenome.org/kb/genes/HGNC:6770","juvenile polyposis syndrome","MONDO:0017380","https://search.clinicalgenome.org/kb/conditions/MONDO:0017380","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/16/2020)","0 - No Evidence for Triplosensitivity (12/16/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6770","Dosage Working Group","","","","Moderate Actionability (10/17/2022) | Strong Actionability (10/17/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC066 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC066"," | "
"SMAD6","HGNC:6772","https://search.clinicalgenome.org/kb/genes/HGNC:6772","syndromic craniosynostosis","MONDO:0015338","https://search.clinicalgenome.org/kb/conditions/MONDO:0015338","Autosomal dominant inheritance","","","","","definitive evidence (06/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c4f789cd-1561-48d1-9dae-98854f4b9121-2023-06-15T160000.000Z","Craniofacial Malformations","","",""
"SMAD7","HGNC:6773","https://search.clinicalgenome.org/kb/genes/HGNC:6773","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (05/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d9050fb-dd82-4fa9-aa2d-ef4b9f13f6b2-2024-05-13T160000.000Z","Congenital Heart Disease","","",""
"SMAD9","HGNC:6774","https://search.clinicalgenome.org/kb/genes/HGNC:6774","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","definitive evidence (05/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14f5a0c2-f82c-4571-a161-fb7ce61ae6d4-2021-05-14T192954.557Z","Pulmonary Hypertension","","",""
"SMARCA1","HGNC:11097","https://search.clinicalgenome.org/kb/genes/HGNC:11097","X-linked intellectual disability","MONDO:0100284","https://search.clinicalgenome.org/kb/conditions/MONDO:0100284","X-linked inheritance","","","","","limited evidence (08/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ce97120a-5094-4768-b305-941353791584-2022-08-03T160000.000Z","Intellectual Disability and Autism","","",""
"SMARCA2","HGNC:11098","https://search.clinicalgenome.org/kb/genes/HGNC:11098","intellectual disability-sparse hair-brachydactyly syndrome","MONDO:0011053","https://search.clinicalgenome.org/kb/conditions/MONDO:0011053","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/27/2013)","0 - No Evidence for Triplosensitivity (03/27/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11098","Dosage Working Group","definitive evidence (08/18/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cde86bc-f99f-40cf-8c32-eac9f8f8a67d-2020-08-18T100000.000Z","Intellectual Disability and Autism","","",""
"SMARCA4","HGNC:11100","https://search.clinicalgenome.org/kb/genes/HGNC:11100","hereditary nonpolyposis colon cancer","MONDO:0018630","https://search.clinicalgenome.org/kb/conditions/MONDO:0018630","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/24/2024)","0 - No Evidence for Triplosensitivity (07/24/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11100","Dosage Working Group","limited evidence (05/08/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9866","Colon Cancer","","",""
"SMARCA4","HGNC:11100","https://search.clinicalgenome.org/kb/genes/HGNC:11100","rhabdoid tumor predisposition syndrome 2","MONDO:0013224","https://search.clinicalgenome.org/kb/conditions/MONDO:0013224","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/24/2024)","0 - No Evidence for Triplosensitivity (07/24/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11100","Dosage Working Group","definitive evidence (06/29/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5edb191-f515-47a3-b1d8-cc723eaef665-2018-06-29T160000.000Z","Hereditary Cancer","Limited Actionability (03/09/2021) | Limited Actionability (03/09/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1024 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1024"," | "
"SMARCA4","HGNC:11100","https://search.clinicalgenome.org/kb/genes/HGNC:11100","Coffin-Siris syndrome","MONDO:0015452","https://search.clinicalgenome.org/kb/conditions/MONDO:0015452","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/24/2024)","0 - No Evidence for Triplosensitivity (07/24/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11100","Dosage Working Group","definitive evidence (06/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61d29c73-9a30-4664-9df2-2f5831219221-2025-06-08T220000.000Z","Intellectual Disability and Autism","","",""
"SMARCA4","HGNC:11100","https://search.clinicalgenome.org/kb/genes/HGNC:11100","familial rhabdoid tumor","MONDO:0016473","https://search.clinicalgenome.org/kb/conditions/MONDO:0016473","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/24/2024)","0 - No Evidence for Triplosensitivity (07/24/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11100","Dosage Working Group","","","","Limited Actionability (03/09/2021) | Limited Actionability (03/09/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1024 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1024"," | "
"SMARCA5","HGNC:11101","https://search.clinicalgenome.org/kb/genes/HGNC:11101","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","moderate evidence (06/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1941d78-2658-4c23-b512-985234d7b4dc-2025-06-18T100000.000Z","Intellectual Disability and Autism","","",""
"SMARCAL1","HGNC:11102","https://search.clinicalgenome.org/kb/genes/HGNC:11102","Schimke immuno-osseous dysplasia","MONDO:0009458","https://search.clinicalgenome.org/kb/conditions/MONDO:0009458","Autosomal recessive inheritance","","","","","definitive evidence (07/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58700233-acb6-4ea8-911b-b3f474906aaa-2021-07-30T130548.284Z","Syndromic Disorders","","",""
"SMARCB1","HGNC:11103","https://search.clinicalgenome.org/kb/genes/HGNC:11103","rhabdoid tumor predisposition syndrome 1","MONDO:0012252","https://search.clinicalgenome.org/kb/conditions/MONDO:0012252","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/22/2020)","0 - No Evidence for Triplosensitivity (04/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11103","Dosage Working Group","definitive evidence (10/12/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d7390e7-0bb1-4ba1-b97e-7f666b52c86b-2018-10-12T205953.762Z","Hereditary Cancer","Has Insufficient Evidence for Actionability Based on Expert Review (03/09/2021) | Limited Actionability (03/09/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1024 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1024"," | "
"SMARCB1","HGNC:11103","https://search.clinicalgenome.org/kb/genes/HGNC:11103","Coffin-Siris syndrome","MONDO:0015452","https://search.clinicalgenome.org/kb/conditions/MONDO:0015452","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/22/2020)","0 - No Evidence for Triplosensitivity (04/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11103","Dosage Working Group","definitive evidence (08/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ea554e80-81d2-4100-8d0e-b762ea38fe23-2023-08-15T040000.000Z","Intellectual Disability and Autism","","",""
"SMARCB1","HGNC:11103","https://search.clinicalgenome.org/kb/genes/HGNC:11103","familial rhabdoid tumor","MONDO:0016473","https://search.clinicalgenome.org/kb/conditions/MONDO:0016473","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/22/2020)","0 - No Evidence for Triplosensitivity (04/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11103","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Expert Review (03/09/2021) | Limited Actionability (03/09/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1024 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1024"," | "
"SMARCC1","HGNC:11104","https://search.clinicalgenome.org/kb/genes/HGNC:11104","SMARCC1-associated developmental dysgenesis syndrome","MONDO:0700123","https://search.clinicalgenome.org/kb/conditions/MONDO:0700123","Autosomal dominant inheritance","","","","","definitive evidence (04/11/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb13d681-db77-4219-93ce-a9eefbd2839c-2023-04-11T160000.000Z","Brain Malformations","","",""
"SMARCC2","HGNC:11105","https://search.clinicalgenome.org/kb/genes/HGNC:11105","Coffin-Siris syndrome","MONDO:0015452","https://search.clinicalgenome.org/kb/conditions/MONDO:0015452","Autosomal dominant inheritance","","","","","definitive evidence (09/17/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa645aa6-3a03-4ab7-9d09-b17be3184259-2025-09-17T100000.000Z","Intellectual Disability and Autism","","",""
"SMARCE1","HGNC:11109","https://search.clinicalgenome.org/kb/genes/HGNC:11109","familial meningioma","MONDO:0011789","https://search.clinicalgenome.org/kb/conditions/MONDO:0011789","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/11/2024)","0 - No Evidence for Triplosensitivity (12/11/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11109","Dosage Working Group","definitive evidence (07/30/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_01e68b67-987e-48ec-a167-cb659cc245e9-2020-07-30T211630.144Z","Hereditary Cancer","","",""
"SMARCE1","HGNC:11109","https://search.clinicalgenome.org/kb/genes/HGNC:11109","Coffin-Siris syndrome","MONDO:0015452","https://search.clinicalgenome.org/kb/conditions/MONDO:0015452","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/11/2024)","0 - No Evidence for Triplosensitivity (12/11/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11109","Dosage Working Group","definitive evidence (09/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_877f5e0f-5b30-4a4f-87c3-cb6b87caa1e4-2024-09-18T190000.000Z","Intellectual Disability and Autism","","",""
"SMC1A","HGNC:11111","https://search.clinicalgenome.org/kb/genes/HGNC:11111","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/23/2018)","0 - No Evidence for Triplosensitivity (07/23/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11111","Dosage Working Group","definitive evidence (06/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c281f5fd-d868-4425-a7b4-8e39e3b2090e-2019-06-19T100000.000Z","Intellectual Disability and Autism","","",""
"SMC1A","HGNC:11111","https://search.clinicalgenome.org/kb/genes/HGNC:11111","Cornelia de Lange syndrome 2","MONDO:0010370","https://search.clinicalgenome.org/kb/conditions/MONDO:0010370","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/23/2018)","0 - No Evidence for Triplosensitivity (07/23/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11111","Dosage Working Group","","","","","",""
"SMC3","HGNC:2468","https://search.clinicalgenome.org/kb/genes/HGNC:2468","Cornelia de Lange syndrome","MONDO:0016033","https://search.clinicalgenome.org/kb/conditions/MONDO:0016033","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (04/08/2025)","0 - No Evidence for Triplosensitivity (04/08/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2468","Dosage Working Group","definitive evidence (04/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9467eaad-a86a-4b24-8cd4-98ebb57121c1-2020-04-07T160000.000Z","Intellectual Disability and Autism","","",""
"SMC3","HGNC:2468","https://search.clinicalgenome.org/kb/genes/HGNC:2468","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (04/08/2025)","0 - No Evidence for Triplosensitivity (04/08/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2468","Dosage Working Group","","","","","",""
"SMCHD1","HGNC:29090","https://search.clinicalgenome.org/kb/genes/HGNC:29090","arhinia, choanal atresia, and microphthalmia","MONDO:0011323","https://search.clinicalgenome.org/kb/conditions/MONDO:0011323","Autosomal dominant inheritance","","","","","definitive evidence (05/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b2f2b442-3afa-4427-8e9b-3dc2485790aa-2022-05-20T042139.263Z","Syndromic Disorders","","",""
"SMG8","HGNC:25551","https://search.clinicalgenome.org/kb/genes/HGNC:25551","Alzahrani-Kuwahara syndrome","MONDO:0859136","https://search.clinicalgenome.org/kb/conditions/MONDO:0859136","Autosomal recessive inheritance","","","","","definitive evidence (10/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d23a6b27-7d29-4547-81bc-11305470dab0-2023-10-20T160000.000Z","Syndromic Disorders","","",""
"SMO","HGNC:11119","https://search.clinicalgenome.org/kb/genes/HGNC:11119","congenital hypothalamic hamartoma syndrome","MONDO:0009436","https://search.clinicalgenome.org/kb/conditions/MONDO:0009436","Autosomal recessive inheritance","","","","","moderate evidence (10/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33566da0-0f61-4dc5-b629-affb4e68e9c7-2023-10-20T160000.000Z","Syndromic Disorders","","",""
"SMO","HGNC:11119","https://search.clinicalgenome.org/kb/genes/HGNC:11119","mosaic SMO syndrome","MONDO:1030005","https://search.clinicalgenome.org/kb/conditions/MONDO:1030005","Autosomal dominant inheritance","","","","","definitive evidence (11/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c11d5f4e-0baa-4846-ad03-762658b7708e-2023-11-16T170000.000Z","Craniofacial Malformations","","",""
"SMOC1","HGNC:20318","https://search.clinicalgenome.org/kb/genes/HGNC:20318","microphthalmia with limb anomalies","MONDO:0008800","https://search.clinicalgenome.org/kb/conditions/MONDO:0008800","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20318","Dosage Working Group","","","","","",""
"SMOC2","HGNC:20323","https://search.clinicalgenome.org/kb/genes/HGNC:20323","dentin dysplasia type I","MONDO:0007436","https://search.clinicalgenome.org/kb/conditions/MONDO:0007436","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20323","Dosage Working Group","","","","","",""
"SMPD1","HGNC:11120","https://search.clinicalgenome.org/kb/genes/HGNC:11120","acid sphingomyelinase deficiency","MONDO:0100464","https://search.clinicalgenome.org/kb/conditions/MONDO:0100464","Autosomal recessive inheritance","","","","","definitive evidence (07/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccda7e6a-1cd6-45e2-971f-528a13589e1c-2022-07-08T160000.000Z","Lysosomal Diseases GCEP","","",""
"SMPX","HGNC:11122","https://search.clinicalgenome.org/kb/genes/HGNC:11122","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","X-linked inheritance","","","","","definitive evidence (09/12/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_29773bee-1f13-43f6-bda0-c5a646efccd7-2017-09-12T160000.000Z","Hearing Loss","","",""
"SMS","HGNC:11123","https://search.clinicalgenome.org/kb/genes/HGNC:11123","syndromic X-linked intellectual disability Snyder type","MONDO:0010664","https://search.clinicalgenome.org/kb/conditions/MONDO:0010664","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/23/2012)","0 - No Evidence for Triplosensitivity (08/23/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11123","Dosage Working Group","definitive evidence (05/16/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f1ca85b-ad57-4c64-9abf-9ae5d915703f-2018-05-16T195543.428Z","Intellectual Disability and Autism","","",""
"SNAI1","HGNC:11128","https://search.clinicalgenome.org/kb/genes/HGNC:11128","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (10/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4331c822-c5ff-4211-aef7-6004c99d95d1-2024-10-01T160000.000Z","Congenital Heart Disease","","",""
"SNAI2","HGNC:11094","https://search.clinicalgenome.org/kb/genes/HGNC:11094","Waardenburg syndrome","MONDO:0018094","https://search.clinicalgenome.org/kb/conditions/MONDO:0018094","Autosomal recessive inheritance","","","","","limited evidence (10/31/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c01d8d8-40a4-4b11-ad9c-8283bb937c55-2024-10-31T160000.000Z","Hearing Loss","","",""
"SNAP25","HGNC:11132","https://search.clinicalgenome.org/kb/genes/HGNC:11132","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","","","","","definitive evidence (03/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5696dbd2-dfe5-4c96-baec-c9d963959b28-2022-03-23T230000.000Z","Intellectual Disability and Autism","","",""
"SNAP29","HGNC:11133","https://search.clinicalgenome.org/kb/genes/HGNC:11133","CEDNIK syndrome","MONDO:0012290","https://search.clinicalgenome.org/kb/conditions/MONDO:0012290","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11133","Dosage Working Group","","","","","",""
"SNCA","HGNC:11138","https://search.clinicalgenome.org/kb/genes/HGNC:11138","Parkinson disease","MONDO:0005180","https://search.clinicalgenome.org/kb/conditions/MONDO:0005180","Autosomal dominant inheritance","","","","","definitive evidence (05/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d21593ae-ed10-4442-8167-24f96f917302-2022-05-03T134931.425Z","Parkinson's Disease","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"SNCA","HGNC:11138","https://search.clinicalgenome.org/kb/genes/HGNC:11138","autosomal dominant Parkinson disease 4","MONDO:0011562","https://search.clinicalgenome.org/kb/conditions/MONDO:0011562","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"SNCA","HGNC:11138","https://search.clinicalgenome.org/kb/genes/HGNC:11138","autosomal dominant Parkinson disease 1","MONDO:0008200","https://search.clinicalgenome.org/kb/conditions/MONDO:0008200","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"SNCA","HGNC:11138","https://search.clinicalgenome.org/kb/genes/HGNC:11138","obsolete hereditary late onset Parkinson disease","MONDO:0018466","https://search.clinicalgenome.org/kb/conditions/MONDO:0018466","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"SNCA","HGNC:11138","https://search.clinicalgenome.org/kb/genes/HGNC:11138","young-onset Parkinson disease","MONDO:0017279","https://search.clinicalgenome.org/kb/conditions/MONDO:0017279","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"SNCA","HGNC:11138","https://search.clinicalgenome.org/kb/genes/HGNC:11138","late-onset Parkinson disease","MONDO:0008199","https://search.clinicalgenome.org/kb/conditions/MONDO:0008199","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"SNRNP200","HGNC:30859","https://search.clinicalgenome.org/kb/genes/HGNC:30859","SNRNP200-related dominant retinopathy","MONDO:0800098","https://search.clinicalgenome.org/kb/conditions/MONDO:0800098","Autosomal dominant inheritance","","","","","definitive evidence (05/24/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41acb15c-18a0-412b-a308-66a7f4e2837a-2022-05-24T160000.000Z","Retina","","",""
"SNTA1","HGNC:11167","https://search.clinicalgenome.org/kb/genes/HGNC:11167","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal dominant inheritance","","","","","disputing (04/24/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03c758a6-9290-4e14-9501-0ffb0fbfe8ce-2020-04-24T040000.000Z","Long QT Syndrome","","",""
"SNUPN","HGNC:14245","https://search.clinicalgenome.org/kb/genes/HGNC:14245","SNUPN-related muscular dystrophy with or without multi-system involvement","MONDO:0100584","https://search.clinicalgenome.org/kb/conditions/MONDO:0100584","Autosomal recessive inheritance","","","","","strong evidence (10/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06303378-ec98-485e-bbfe-dcbd5c5ebea3-2024-10-08T160000.000Z","Muscular Dystrophies and Myopathies","","",""
"SNX10","HGNC:14974","https://search.clinicalgenome.org/kb/genes/HGNC:14974","autosomal recessive osteopetrosis 8","MONDO:0014040","https://search.clinicalgenome.org/kb/conditions/MONDO:0014040","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/15/2025)","0 - No Evidence for Triplosensitivity (05/15/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14974","Dosage Working Group","definitive evidence (06/24/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c6f3ffa-405b-4b64-b29d-b4dc157ef586-2024-06-24T160000.000Z","Skeletal Disorders","","",""
"SNX14","HGNC:14977","https://search.clinicalgenome.org/kb/genes/HGNC:14977","autosomal recessive spinocerebellar ataxia 20","MONDO:0014601","https://search.clinicalgenome.org/kb/conditions/MONDO:0014601","Autosomal recessive inheritance","","","","","definitive evidence (10/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_caf5ad64-1220-4969-bde4-1aaca1d95c3c-2024-10-09T160000.000Z","Cerebellar Ataxia","","",""
"SOBP","HGNC:29256","https://search.clinicalgenome.org/kb/genes/HGNC:29256","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29256","Dosage Working Group","limited evidence (10/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3edc996d-92e2-4556-947e-5a298cf1341d-2022-10-18T063000.000Z","Intellectual Disability and Autism","","",""
"SOBP","HGNC:29256","https://search.clinicalgenome.org/kb/genes/HGNC:29256","intellectual disability, anterior maxillary protrusion, and strabismus","MONDO:0013353","https://search.clinicalgenome.org/kb/conditions/MONDO:0013353","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29256","Dosage Working Group","","","","","",""
"SOCS1","HGNC:19383","https://search.clinicalgenome.org/kb/genes/HGNC:19383","autoinflammatory syndrome with immunodeficiency","MONDO:0800130","https://search.clinicalgenome.org/kb/conditions/MONDO:0800130","Autosomal dominant inheritance","","","","","definitive evidence (02/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_68f51e4f-ce10-493b-949a-29eda10e4ccb-2025-02-18T170000.000Z","Primary Immune Regulatory Disorders","","",""
"SOD1","HGNC:11179","https://search.clinicalgenome.org/kb/genes/HGNC:11179","amyotrophic lateral sclerosis type 1","MONDO:0007103","https://search.clinicalgenome.org/kb/conditions/MONDO:0007103","Autosomal dominant inheritance","","","","","definitive evidence (07/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_97d17778-d21e-441f-b4b7-49eccaa8cbab-2021-07-13T192226.690Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"SON","HGNC:11183","https://search.clinicalgenome.org/kb/genes/HGNC:11183","ZTTK syndrome","MONDO:0014936","https://search.clinicalgenome.org/kb/conditions/MONDO:0014936","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/24/2019)","0 - No Evidence for Triplosensitivity (04/24/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11183","Dosage Working Group","definitive evidence (08/24/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b7e86b1d-154a-40b5-b454-fad392f87782-2023-08-24T060000.000Z","Intellectual Disability and Autism","","",""
"SORD","HGNC:11184","https://search.clinicalgenome.org/kb/genes/HGNC:11184","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Autosomal recessive inheritance","","","","","definitive evidence (04/13/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aac3d58a-b916-4b71-819f-ba4ef1de18d2-2023-04-13T160000.000Z","Charcot-Marie-Tooth","","",""
"SOS1","HGNC:11187","https://search.clinicalgenome.org/kb/genes/HGNC:11187","cardiofaciocutaneous syndrome","MONDO:0015280","https://search.clinicalgenome.org/kb/conditions/MONDO:0015280","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/30/2012)","0 - No Evidence for Triplosensitivity (03/30/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11187","Dosage Working Group","disputing (06/01/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee5b916f-82ef-4738-82c8-46ee2fad131b-2018-06-01T160000.000Z","RASopathy","","",""
"SOS1","HGNC:11187","https://search.clinicalgenome.org/kb/genes/HGNC:11187","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/30/2012)","0 - No Evidence for Triplosensitivity (03/30/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11187","Dosage Working Group","definitive evidence (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9781b6bf-9b1e-4a10-a0a9-7e56562a6e3a-2018-07-24T160000.000Z","RASopathy","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"SOS1","HGNC:11187","https://search.clinicalgenome.org/kb/genes/HGNC:11187","Costello syndrome","MONDO:0009026","https://search.clinicalgenome.org/kb/conditions/MONDO:0009026","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/30/2012)","0 - No Evidence for Triplosensitivity (03/30/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11187","Dosage Working Group","disputing (07/24/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cf0ea291-849a-4bd9-a12a-cd9daad7e214-2018-07-24T160000.000Z","RASopathy","","",""
"SOS1","HGNC:11187","https://search.clinicalgenome.org/kb/genes/HGNC:11187","Noonan syndrome 4","MONDO:0012547","https://search.clinicalgenome.org/kb/conditions/MONDO:0012547","N/A","0 - No Evidence for Haploinsufficiency (03/30/2012)","0 - No Evidence for Triplosensitivity (03/30/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11187","Dosage Working Group","","","","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"SOS2","HGNC:11188","https://search.clinicalgenome.org/kb/genes/HGNC:11188","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","","","","","definitive evidence (08/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f20a1034-e29d-49bb-aed9-b4ba63dc5968-2020-08-27T160000.000Z","RASopathy","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"SOS2","HGNC:11188","https://search.clinicalgenome.org/kb/genes/HGNC:11188","Noonan syndrome 9","MONDO:0014691","https://search.clinicalgenome.org/kb/conditions/MONDO:0014691","N/A","","","","","","","","Assertion Pending (07/01/2019) | Assertion Pending (07/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1003 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1003"," | "
"SOST","HGNC:13771","https://search.clinicalgenome.org/kb/genes/HGNC:13771","sclerosteosis 1","MONDO:0010016","https://search.clinicalgenome.org/kb/conditions/MONDO:0010016","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2012)","0 - No Evidence for Triplosensitivity (08/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13771","Dosage Working Group","","","","","",""
"SOX10","HGNC:11190","https://search.clinicalgenome.org/kb/genes/HGNC:11190","Waardenburg syndrome type 4C","MONDO:0013202","https://search.clinicalgenome.org/kb/conditions/MONDO:0013202","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/18/2013)","0 - No Evidence for Triplosensitivity (07/18/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11190","Dosage Working Group","definitive evidence (06/19/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_00a5b707-a265-4af0-a7e1-f15734ea42b9-2018-06-19T160000.000Z","Hearing Loss","","",""
"SOX11","HGNC:11191","https://search.clinicalgenome.org/kb/genes/HGNC:11191","intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism","MONDO:0014376","https://search.clinicalgenome.org/kb/conditions/MONDO:0014376","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/21/2024)","0 - No Evidence for Triplosensitivity (11/21/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11191","Dosage Working Group","","","","","",""
"SOX17","HGNC:18122","https://search.clinicalgenome.org/kb/genes/HGNC:18122","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","definitive evidence (10/22/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d47cc1b-9fe0-4f2f-9415-1490d81a5ca3-2025-10-22T160000.000Z","Pulmonary Hypertension","","",""
"SOX2","HGNC:11195","https://search.clinicalgenome.org/kb/genes/HGNC:11195","anophthalmia/microphthalmia-esophageal atresia syndrome","MONDO:0008799","https://search.clinicalgenome.org/kb/conditions/MONDO:0008799","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11195","Dosage Working Group","","","","","",""
"SOX3","HGNC:11199","https://search.clinicalgenome.org/kb/genes/HGNC:11199","SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder","MONDO:0800474","https://search.clinicalgenome.org/kb/conditions/MONDO:0800474","X-linked inheritance","0 - No Evidence for Haploinsufficiency (01/10/2023)","2 - Emerging Evidence for Triplosensitivity (01/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11199","Dosage Working Group","moderate evidence (08/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_796f4ae7-c817-44d4-935b-babf74a0ce47-2023-08-02T160000.000Z","Syndromic Disorders","","",""
"SOX3","HGNC:11199","https://search.clinicalgenome.org/kb/genes/HGNC:11199","intellectual disability, X-linked, with panhypopituitarism","MONDO:0010252","https://search.clinicalgenome.org/kb/conditions/MONDO:0010252","N/A","0 - No Evidence for Haploinsufficiency (01/10/2023)","2 - Emerging Evidence for Triplosensitivity (01/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11199","Dosage Working Group","","","","","",""
"SOX5","HGNC:11201","https://search.clinicalgenome.org/kb/genes/HGNC:11201","Lamb-Shaffer syndrome","MONDO:0014778","https://search.clinicalgenome.org/kb/conditions/MONDO:0014778","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/19/2016)","0 - No Evidence for Triplosensitivity (08/19/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11201","Dosage Working Group","definitive evidence (01/27/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_781f21f2-d01a-457c-913e-8687a7c2650d-2022-01-27T170000.000Z","Intellectual Disability and Autism","","",""
"SOX6","HGNC:16421","https://search.clinicalgenome.org/kb/genes/HGNC:16421","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (03/22/2012)","0 - No Evidence for Triplosensitivity (03/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16421","Dosage Working Group","definitive evidence (09/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c9a42d99-af9a-47d6-ab3c-e2d874f823f2-2024-09-17T160000.000Z","Intellectual Disability and Autism","","",""
"SOX7","HGNC:18196","https://search.clinicalgenome.org/kb/genes/HGNC:18196","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (10/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a18a4aac-acfb-4059-949c-75c1cf9fac4f-2024-10-01T160000.000Z","Congenital Heart Disease","","",""
"SOX9","HGNC:11204","https://search.clinicalgenome.org/kb/genes/HGNC:11204","campomelic dysplasia","MONDO:0007251","https://search.clinicalgenome.org/kb/conditions/MONDO:0007251","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11204","Dosage Working Group","definitive evidence (06/01/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca6e2118-28d5-4a6f-8333-ee30994d41cd-2020-06-01T170000.000Z","Skeletal Disorders","","",""
"SOX9","HGNC:11204","https://search.clinicalgenome.org/kb/genes/HGNC:11204","isolated Pierre-Robin syndrome","MONDO:0009869","https://search.clinicalgenome.org/kb/conditions/MONDO:0009869","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11204","Dosage Working Group","limited evidence (08/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_951f7fcd-2b6a-46cd-be1d-7993ee5119c1-2024-08-06T160000.000Z","Skeletal Disorders","","",""
"SOX9","HGNC:11204","https://search.clinicalgenome.org/kb/genes/HGNC:11204","Cooks syndrome","MONDO:0007134","https://search.clinicalgenome.org/kb/conditions/MONDO:0007134","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11204","Dosage Working Group","limited evidence (09/16/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1fdeca1-a725-4ccb-a7f6-e77c2d6158aa-2020-09-16T170000.000Z","Skeletal Disorders","","",""
"SP110","HGNC:5401","https://search.clinicalgenome.org/kb/genes/HGNC:5401","hepatic veno-occlusive disease-immunodeficiency syndrome","MONDO:0009338","https://search.clinicalgenome.org/kb/conditions/MONDO:0009338","Autosomal recessive inheritance","","","","","definitive evidence (10/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee8bf8d3-46b2-4b29-b729-734c952ada99-2023-10-19T160000.000Z","SCID-CID","","",""
"SPAG1","HGNC:11212","https://search.clinicalgenome.org/kb/genes/HGNC:11212","primary ciliary dyskinesia 28","MONDO:0014216","https://search.clinicalgenome.org/kb/conditions/MONDO:0014216","Autosomal recessive inheritance","","","","","definitive evidence (06/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0d43e40-0aa3-41cf-9e3a-8311e685c7be-2022-06-22T190000.000Z","Motile Ciliopathy GCEP","Moderate Actionability (11/15/2022) | Limited Actionability (11/15/2022)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1007 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1007"," | "
"SPART","HGNC:18514","https://search.clinicalgenome.org/kb/genes/HGNC:18514","Troyer syndrome","MONDO:0010156","https://search.clinicalgenome.org/kb/conditions/MONDO:0010156","Autosomal recessive inheritance","","","","","definitive evidence (12/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f0c5bcd-68a3-46f2-b632-82feb28381d4-2022-12-19T170000.000Z","Cerebral Palsy","","",""
"SPAST","HGNC:11233","https://search.clinicalgenome.org/kb/genes/HGNC:11233","hereditary spastic paraplegia 4","MONDO:0008438","https://search.clinicalgenome.org/kb/conditions/MONDO:0008438","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/25/2019)","0 - No Evidence for Triplosensitivity (09/25/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11233","Dosage Working Group","","","","","",""
"SPATA13","HGNC:23222","https://search.clinicalgenome.org/kb/genes/HGNC:23222","primary angle-closure glaucoma","MONDO:0001868","https://search.clinicalgenome.org/kb/conditions/MONDO:0001868","Autosomal dominant inheritance","","","","","limited evidence (03/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ef1d5a1-5a5b-425b-998d-0c6e23d3bd40-2023-03-16T190000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"SPATA7","HGNC:20423","https://search.clinicalgenome.org/kb/genes/HGNC:20423","inherited retinal dystrophy","MONDO:0019118","https://search.clinicalgenome.org/kb/conditions/MONDO:0019118","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20423","Dosage Working Group","definitive evidence (08/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c0c6cda-eb17-47a6-8e9d-bbafd4330295-2024-08-01T160000.000Z","Retina","","",""
"SPATA7","HGNC:20423","https://search.clinicalgenome.org/kb/genes/HGNC:20423","Leber congenital amaurosis 3","MONDO:0011415","https://search.clinicalgenome.org/kb/conditions/MONDO:0011415","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20423","Dosage Working Group","","","","","",""
"SPEF2","HGNC:26293","https://search.clinicalgenome.org/kb/genes/HGNC:26293","primary ciliary dyskinesia","MONDO:0016575","https://search.clinicalgenome.org/kb/conditions/MONDO:0016575","Autosomal recessive inheritance","","","","","definitive evidence (01/09/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e137eed5-fcd8-4497-a6dc-6651062d1cf3-2025-01-09T170000.000Z","Motile Ciliopathy GCEP","","",""
"SPEG","HGNC:16901","https://search.clinicalgenome.org/kb/genes/HGNC:16901","myopathy, centronuclear, 5","MONDO:0014418","https://search.clinicalgenome.org/kb/conditions/MONDO:0014418","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16901","Dosage Working Group","definitive evidence (01/12/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a8f91f1-da1e-489d-84e1-46aa543b3df9-2020-01-12T213416.305Z","Congenital Myopathies","","",""
"SPEN","HGNC:17575","https://search.clinicalgenome.org/kb/genes/HGNC:17575","Radio-Tartaglia syndrome","MONDO:0859143","https://search.clinicalgenome.org/kb/conditions/MONDO:0859143","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (03/27/2019)","0 - No Evidence for Triplosensitivity (03/27/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17575","Dosage Working Group","definitive evidence (11/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4800898-ad53-4fec-8b29-dd0a8225919b-2023-11-01T160000.000Z","Syndromic Disorders","","",""
"SPEN","HGNC:17575","https://search.clinicalgenome.org/kb/genes/HGNC:17575","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (03/27/2019)","0 - No Evidence for Triplosensitivity (03/27/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17575","Dosage Working Group","","","","","",""
"SPG11","HGNC:11226","https://search.clinicalgenome.org/kb/genes/HGNC:11226","hereditary spastic paraplegia 11","MONDO:0011445","https://search.clinicalgenome.org/kb/conditions/MONDO:0011445","Autosomal recessive inheritance","","","","","definitive evidence (06/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d32f521e-3d88-4b35-94e6-5fc4124c159c-2023-06-07T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"SPG21","HGNC:20373","https://search.clinicalgenome.org/kb/genes/HGNC:20373","mast syndrome","MONDO:0009568","https://search.clinicalgenome.org/kb/conditions/MONDO:0009568","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20373","Dosage Working Group","","","","","",""
"SPG7","HGNC:11237","https://search.clinicalgenome.org/kb/genes/HGNC:11237","hereditary spastic paraplegia 7","MONDO:0011803","https://search.clinicalgenome.org/kb/conditions/MONDO:0011803","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11237","Dosage Working Group","","","","","",""
"SPI1","HGNC:11241","https://search.clinicalgenome.org/kb/genes/HGNC:11241","agammaglobulinemia 10, autosomal dominant","MONDO:0030529","https://search.clinicalgenome.org/kb/conditions/MONDO:0030529","Autosomal dominant inheritance","","","","","definitive evidence (12/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76a93861-b7d3-4d08-8882-6a7a1456b51a-2024-12-12T050000.000Z","Antibody Deficiencies GCEP","","",""
"SPINK1","HGNC:11244","https://search.clinicalgenome.org/kb/genes/HGNC:11244","hereditary chronic pancreatitis","MONDO:0008185","https://search.clinicalgenome.org/kb/conditions/MONDO:0008185","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/25/2021)","0 - No Evidence for Triplosensitivity (10/25/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11244","Dosage Working Group","","","","","",""
"SPINK5","HGNC:15464","https://search.clinicalgenome.org/kb/genes/HGNC:15464","Netherton syndrome","MONDO:0009735","https://search.clinicalgenome.org/kb/conditions/MONDO:0009735","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15464","Dosage Working Group","","","","","",""
"SPR","HGNC:11257","https://search.clinicalgenome.org/kb/genes/HGNC:11257","dopa-responsive dystonia due to sepiapterin reductase deficiency","MONDO:0012994","https://search.clinicalgenome.org/kb/conditions/MONDO:0012994","Autosomal recessive inheritance","","","","","definitive evidence (06/04/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c9f2ff6-39f1-4abc-9fdf-de4c0e23120d-2021-06-04T221815.205Z","Aminoacidopathy","","",""
"SPRED1","HGNC:20249","https://search.clinicalgenome.org/kb/genes/HGNC:20249","Legius syndrome","MONDO:0012669","https://search.clinicalgenome.org/kb/conditions/MONDO:0012669","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/14/2013)","0 - No Evidence for Triplosensitivity (03/14/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20249","Dosage Working Group","definitive evidence (01/24/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3ba44430-8f71-4b94-a6f1-7f66d3a27897-2019-01-24T050000.000Z","RASopathy","Has Insufficient Evidence for Actionability Based on Early Rule-out (07/09/2019) | Has Insufficient Evidence for Actionability Based on Early Rule-out (07/09/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1012 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1012"," | "
"SPTAN1","HGNC:11273","https://search.clinicalgenome.org/kb/genes/HGNC:11273","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (09/24/2025)","0 - No Evidence for Triplosensitivity (09/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11273","Dosage Working Group","definitive evidence (01/17/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6737ac52-8177-4be1-95fe-92ddecbf5636-2019-01-17T170000.000Z","Epilepsy","","",""
"SPTAN1","HGNC:11273","https://search.clinicalgenome.org/kb/genes/HGNC:11273","neuronopathy, distal hereditary motor, autosomal dominant 11","MONDO:0957875","https://search.clinicalgenome.org/kb/conditions/MONDO:0957875","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/24/2025)","0 - No Evidence for Triplosensitivity (09/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11273","Dosage Working Group","","","","","",""
"SPTBN1","HGNC:11275","https://search.clinicalgenome.org/kb/genes/HGNC:11275","developmental delay, impaired speech, and behavioral abnormalities","MONDO:0859178","https://search.clinicalgenome.org/kb/conditions/MONDO:0859178","Autosomal dominant inheritance","","","","","strong evidence (12/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96d77406-9cbb-471f-b16a-7f1fb2af2655-2023-12-15T170000.000Z","Syndromic Disorders","","",""
"SPTBN2","HGNC:11276","https://search.clinicalgenome.org/kb/genes/HGNC:11276","spinocerebellar ataxia type 5","MONDO:0010848","https://search.clinicalgenome.org/kb/conditions/MONDO:0010848","Autosomal dominant inheritance","","","","","definitive evidence (09/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_634f17d6-d189-4141-a57f-998639db0a4f-2025-09-10T160000.000Z","Cerebellar Ataxia","","",""
"SPTBN4","HGNC:14896","https://search.clinicalgenome.org/kb/genes/HGNC:14896","neurodevelopmental disorder with hypotonia, neuropathy, and deafness","MONDO:0060496","https://search.clinicalgenome.org/kb/conditions/MONDO:0060496","Autosomal recessive inheritance","","","","","definitive evidence (06/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff8934be-15d6-474e-b5fa-30328f633170-2022-06-22T160000.000Z","Syndromic Disorders","","",""
"SPTLC2","HGNC:11278","https://search.clinicalgenome.org/kb/genes/HGNC:11278","neuropathy, hereditary sensory and autonomic, type 1C","MONDO:0013337","https://search.clinicalgenome.org/kb/conditions/MONDO:0013337","Autosomal dominant inheritance","","","","","definitive evidence (01/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2294e1cf-3aad-471e-a360-9f6f8c3b4d8f-2023-01-10T170000.000Z","Charcot-Marie-Tooth","","",""
"SPTLC2","HGNC:11278","https://search.clinicalgenome.org/kb/genes/HGNC:11278","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","","","","","strong evidence (06/26/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_402cf65d-02f1-4cc1-a45e-b3bd3ad48b86-2024-06-26T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"SQOR","HGNC:20390","https://search.clinicalgenome.org/kb/genes/HGNC:20390","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (01/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_09ea3b0c-cc3a-44d1-a702-9f1674c33040-2021-01-21T005124.845Z","Mitochondrial Diseases","","",""
"SQSTM1","HGNC:11280","https://search.clinicalgenome.org/kb/genes/HGNC:11280","frontotemporal dementia and/or amyotrophic lateral sclerosis 3","MONDO:0014640","https://search.clinicalgenome.org/kb/conditions/MONDO:0014640","Autosomal dominant inheritance","","","","","moderate evidence (12/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dae3327f-6381-44cc-8baa-8fa1fc0d31d5-2022-12-13T170000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"SRC","HGNC:11283","https://search.clinicalgenome.org/kb/genes/HGNC:11283","thrombocytopenia 6","MONDO:0014837","https://search.clinicalgenome.org/kb/conditions/MONDO:0014837","Autosomal dominant inheritance","","","","","moderate evidence (06/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3420133d-7a37-4f76-a3e7-6b9a0bc3803e-2024-06-03T160000.000Z","Hemostasis Thrombosis","","",""
"SRCAP","HGNC:16974","https://search.clinicalgenome.org/kb/genes/HGNC:16974","Floating-Harbor syndrome","MONDO:0007621","https://search.clinicalgenome.org/kb/conditions/MONDO:0007621","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (05/31/2018)","0 - No Evidence for Triplosensitivity (05/31/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16974","Dosage Working Group","definitive evidence (08/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b414014-3a99-48f2-aac1-20903838af0f-2023-08-01T063000.000Z","Intellectual Disability and Autism","","",""
"SRD5A2","HGNC:11285","https://search.clinicalgenome.org/kb/genes/HGNC:11285","46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency","MONDO:0009923","https://search.clinicalgenome.org/kb/conditions/MONDO:0009923","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2012)","0 - No Evidence for Triplosensitivity (08/22/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11285","Dosage Working Group","","","","","",""
"SRD5A3","HGNC:25812","https://search.clinicalgenome.org/kb/genes/HGNC:25812","SRD5A3-congenital disorder of glycosylation","MONDO:0012885","https://search.clinicalgenome.org/kb/conditions/MONDO:0012885","Autosomal recessive inheritance","","","","","definitive evidence (01/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8336b45-245d-4309-8451-e99acb568663-2024-01-17T170000.000Z","Congenital Disorders of Glycosylation","","",""
"SRF","HGNC:11291","https://search.clinicalgenome.org/kb/genes/HGNC:11291","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (04/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b290d584-f0be-49b7-bcc6-14da986e82ed-2024-04-02T160000.000Z","Congenital Heart Disease","","",""
"SRPX2","HGNC:30668","https://search.clinicalgenome.org/kb/genes/HGNC:30668","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","X-linked inheritance","0 - No Evidence for Haploinsufficiency (07/25/2012)","0 - No Evidence for Triplosensitivity (07/25/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30668","Dosage Working Group","refuting evidence (10/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e9555886-a248-4bd4-b3dc-50ff503d6e7a-2023-10-17T170000.000Z","Epilepsy","","",""
"SRRM2","HGNC:16639","https://search.clinicalgenome.org/kb/genes/HGNC:16639","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/13/2024)","0 - No Evidence for Triplosensitivity (02/13/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16639","Dosage Working Group","","","","","",""
"SRSF1","HGNC:10780","https://search.clinicalgenome.org/kb/genes/HGNC:10780","neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities","MONDO:0957583","https://search.clinicalgenome.org/kb/conditions/MONDO:0957583","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/19/2025)","0 - No Evidence for Triplosensitivity (06/19/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10780","Dosage Working Group","","","","","",""
"SRSF11","HGNC:10782","https://search.clinicalgenome.org/kb/genes/HGNC:10782","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (04/08/2025)","0 - No Evidence for Triplosensitivity (04/08/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10782","Dosage Working Group","","","","","",""
"SRY","HGNC:11311","https://search.clinicalgenome.org/kb/genes/HGNC:11311","46,XY sex reversal 1","MONDO:0020712","https://search.clinicalgenome.org/kb/conditions/MONDO:0020712","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/22/2020)","0 - No Evidence for Triplosensitivity (12/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11311","Dosage Working Group","","","","","",""
"SS18L1","HGNC:15592","https://search.clinicalgenome.org/kb/genes/HGNC:15592","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","","","","","limited evidence (05/25/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e148a06-50fc-45f3-90ea-023dc8687577-2023-05-25T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"SSBP1","HGNC:11317","https://search.clinicalgenome.org/kb/genes/HGNC:11317","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal dominant inheritance","","","","","limited evidence (06/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ef6f4e7-6e59-4eaf-b303-7f975542d1b9-2021-06-14T144803.625Z","Mitochondrial Diseases","","",""
"SSBP1","HGNC:11317","https://search.clinicalgenome.org/kb/genes/HGNC:11317","optic atrophy 13 with retinal and foveal abnormalities","MONDO:0008135","https://search.clinicalgenome.org/kb/conditions/MONDO:0008135","Autosomal dominant inheritance","","","","","strong evidence (05/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51701b05-3956-4d7b-adc7-7ba4192e8283-2021-05-20T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"ST14","HGNC:11344","https://search.clinicalgenome.org/kb/genes/HGNC:11344","autosomal recessive congenital ichthyosis 11","MONDO:0011218","https://search.clinicalgenome.org/kb/conditions/MONDO:0011218","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11344","Dosage Working Group","","","","","",""
"ST3GAL3","HGNC:10866","https://search.clinicalgenome.org/kb/genes/HGNC:10866","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal recessive inheritance","","","","","moderate evidence (06/03/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e151129d-46fc-4f7e-a434-e423a3fb644b-2020-06-03T160000.000Z","Intellectual Disability and Autism","","",""
"ST3GAL5","HGNC:10872","https://search.clinicalgenome.org/kb/genes/HGNC:10872","GM3 synthase deficiency","MONDO:0018274","https://search.clinicalgenome.org/kb/conditions/MONDO:0018274","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/25/2014)","0 - No Evidence for Triplosensitivity (09/25/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10872","Dosage Working Group","definitive evidence (04/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5ea65e3-6a02-4435-9ef5-100564d3497c-2022-04-05T160000.000Z","Epilepsy","","",""
"STAC3","HGNC:28423","https://search.clinicalgenome.org/kb/genes/HGNC:28423","Bailey-Bloch congenital myopathy","MONDO:0009722","https://search.clinicalgenome.org/kb/conditions/MONDO:0009722","Autosomal recessive inheritance","","","","","definitive evidence (04/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_940572b9-6a5a-4de1-8ee1-6394f589515f-2020-04-25T160000.000Z","Congenital Myopathies","","",""
"STAG1","HGNC:11354","https://search.clinicalgenome.org/kb/genes/HGNC:11354","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/22/2025)","0 - No Evidence for Triplosensitivity (01/22/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11354","Dosage Working Group","definitive evidence (09/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30cc66e4-e3cf-428d-9f27-58e8427c94f1-2022-09-20T060000.000Z","Intellectual Disability and Autism","","",""
"STAG2","HGNC:11355","https://search.clinicalgenome.org/kb/genes/HGNC:11355","X-linked syndromic intellectual disability","MONDO:0020119","https://search.clinicalgenome.org/kb/conditions/MONDO:0020119","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/25/2023)","0 - No Evidence for Triplosensitivity (01/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11355","Dosage Working Group","","","","","",""
"STAT1","HGNC:11362","https://search.clinicalgenome.org/kb/genes/HGNC:11362","immunodeficiency 31B","MONDO:0013427","https://search.clinicalgenome.org/kb/conditions/MONDO:0013427","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (09/18/2013)","0 - No Evidence for Triplosensitivity (09/18/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11362","Dosage Working Group","definitive evidence (10/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3240fac3-4738-4cd5-9923-bd1ca1896b07-2024-10-06T090000.000Z","Primary Immune Regulatory Disorders","","",""
"STAT1","HGNC:11362","https://search.clinicalgenome.org/kb/genes/HGNC:11362","Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency","MONDO:0013956","https://search.clinicalgenome.org/kb/conditions/MONDO:0013956","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/18/2013)","0 - No Evidence for Triplosensitivity (09/18/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11362","Dosage Working Group","definitive evidence (11/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ac2fe8ac-e470-4fa3-b596-ad8e15d5b065-2024-11-20T100000.000Z","Primary Immune Regulatory Disorders","","",""
"STAT1","HGNC:11362","https://search.clinicalgenome.org/kb/genes/HGNC:11362","autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome","MONDO:0013599","https://search.clinicalgenome.org/kb/conditions/MONDO:0013599","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/18/2013)","0 - No Evidence for Triplosensitivity (09/18/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11362","Dosage Working Group","definitive evidence (12/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3df6d1b-5611-4814-b283-8a082b725bc0-2024-12-17T100000.000Z","Primary Immune Regulatory Disorders","","",""
"STAT3","HGNC:11364","https://search.clinicalgenome.org/kb/genes/HGNC:11364","hyper-IgE recurrent infection syndrome 1, autosomal dominant","MONDO:0007818","https://search.clinicalgenome.org/kb/conditions/MONDO:0007818","Autosomal dominant inheritance","","","","","definitive evidence (06/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_beb3aa5b-240e-45d7-969a-9de3e5564457-2025-06-16T160000.000Z","SCID-CID","","",""
"STAT3","HGNC:11364","https://search.clinicalgenome.org/kb/genes/HGNC:11364","STAT3-related early-onset multisystem autoimmune disease","MONDO:0014414","https://search.clinicalgenome.org/kb/conditions/MONDO:0014414","Autosomal dominant inheritance","","","","","definitive evidence (02/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_47daba8d-d94b-4efc-ac42-28d9dd81e891-2022-02-16T181712.967Z","SCID-CID","","",""
"STAT6","HGNC:11368","https://search.clinicalgenome.org/kb/genes/HGNC:11368","hyper-IgE syndrome 6, autosomal dominant, with recurrent infections","MONDO:0957807","https://search.clinicalgenome.org/kb/conditions/MONDO:0957807","Autosomal dominant inheritance","","","","","strong evidence (10/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_36ad71e9-f666-4b5c-82e0-02d21425d5b4-2024-10-08T160000.000Z","Primary Immune Regulatory Disorders","","",""
"STEAP3","HGNC:24592","https://search.clinicalgenome.org/kb/genes/HGNC:24592","severe congenital hypochromic anemia with ringed sideroblasts","MONDO:0014094","https://search.clinicalgenome.org/kb/conditions/MONDO:0014094","Autosomal dominant inheritance","","","","","disputing (04/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81153e33-d848-4657-92d0-0c09ea4254ac-2025-04-25T190000.000Z","General Inborn Errors of Metabolism","","",""
"STIL","HGNC:10879","https://search.clinicalgenome.org/kb/genes/HGNC:10879","autosomal recessive primary microcephaly","MONDO:0016660","https://search.clinicalgenome.org/kb/conditions/MONDO:0016660","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10879","Dosage Working Group","definitive evidence (03/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19d81e58-cb01-4cf3-8817-dfa0429150c3-2023-03-28T190000.000Z","Brain Malformations","","",""
"STIL","HGNC:10879","https://search.clinicalgenome.org/kb/genes/HGNC:10879","microcephaly 7, primary, autosomal recessive","MONDO:0012989","https://search.clinicalgenome.org/kb/conditions/MONDO:0012989","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10879","Dosage Working Group","","","","","",""
"STIM1","HGNC:11386","https://search.clinicalgenome.org/kb/genes/HGNC:11386","tubular aggregate myopathy","MONDO:0008051","https://search.clinicalgenome.org/kb/conditions/MONDO:0008051","Autosomal dominant inheritance","","","","","definitive evidence (04/01/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9419adda-b3fb-4c2d-8562-6a0318260bbd-2021-04-01T160000.000Z","Congenital Myopathies","","",""
"STIM1","HGNC:11386","https://search.clinicalgenome.org/kb/genes/HGNC:11386","combined immunodeficiency due to STIM1 deficiency","MONDO:0013008","https://search.clinicalgenome.org/kb/conditions/MONDO:0013008","Autosomal recessive inheritance","","","","","definitive evidence (08/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1fdaadc-899e-41bb-b115-97d86814a203-2025-08-21T170000.000Z","SCID-CID","","",""
"STK11","HGNC:11389","https://search.clinicalgenome.org/kb/genes/HGNC:11389","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/10/2021)","0 - No Evidence for Triplosensitivity (11/10/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11389","Dosage Working Group","no known disease relationship (10/26/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8708","Breast/Ovarian Cancer","","",""
"STK11","HGNC:11389","https://search.clinicalgenome.org/kb/genes/HGNC:11389","Peutz-Jeghers syndrome","MONDO:0008280","https://search.clinicalgenome.org/kb/conditions/MONDO:0008280","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/10/2021)","0 - No Evidence for Triplosensitivity (11/10/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11389","Dosage Working Group","definitive evidence (12/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_89685102-ac40-4932-96e7-c2e9e9280858-2023-12-20T180000.000Z","Hereditary Cancer","Strong Actionability (01/02/2020) | Moderate Actionability (01/02/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC115 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC115"," | "
"STK36","HGNC:17209","https://search.clinicalgenome.org/kb/genes/HGNC:17209","ciliary dyskinesia, primary, 46","MONDO:0030332","https://search.clinicalgenome.org/kb/conditions/MONDO:0030332","Autosomal recessive inheritance","","","","","moderate evidence (12/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7881f30d-7281-42d0-9352-0e7fff26f14f-2024-12-05T050000.000Z","Motile Ciliopathy GCEP","","",""
"STK4","HGNC:11408","https://search.clinicalgenome.org/kb/genes/HGNC:11408","combined immunodeficiency due to STK4 deficiency","MONDO:0013934","https://search.clinicalgenome.org/kb/conditions/MONDO:0013934","Autosomal recessive inheritance","","","","","definitive evidence (06/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0febeeb3-1a55-41c2-905c-c1d0619aa45b-2022-06-02T160000.000Z","SCID-CID","","",""
"STRC","HGNC:16035","https://search.clinicalgenome.org/kb/genes/HGNC:16035","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16035","Dosage Working Group","definitive evidence (12/19/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_977b98b7-00f4-4200-9b17-f37303889ab4-2017-12-19T050000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"STRC","HGNC:16035","https://search.clinicalgenome.org/kb/genes/HGNC:16035","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16035","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"STRC","HGNC:16035","https://search.clinicalgenome.org/kb/genes/HGNC:16035","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16035","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"STRC","HGNC:16035","https://search.clinicalgenome.org/kb/genes/HGNC:16035","autosomal recessive nonsyndromic hearing loss 16","MONDO:0011364","https://search.clinicalgenome.org/kb/conditions/MONDO:0011364","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16035","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"STS","HGNC:11425","https://search.clinicalgenome.org/kb/genes/HGNC:11425","recessive X-linked ichthyosis","MONDO:0010622","https://search.clinicalgenome.org/kb/conditions/MONDO:0010622","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/14/2018)","0 - No Evidence for Triplosensitivity (09/14/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11425","Dosage Working Group","","","","","",""
"STT3A","HGNC:6172","https://search.clinicalgenome.org/kb/genes/HGNC:6172","STT3A-congenital disorder of glycosylation","MONDO:0014270","https://search.clinicalgenome.org/kb/conditions/MONDO:0014270","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/29/2014)","0 - No Evidence for Triplosensitivity (08/29/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6172","Dosage Working Group","moderate evidence (04/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_baa0de31-7843-446e-a451-56cf0d879824-2025-04-16T160000.000Z","Congenital Disorders of Glycosylation","","",""
"STT3A","HGNC:6172","https://search.clinicalgenome.org/kb/genes/HGNC:6172","congenital disorder of glycosylation, type Iw, autosomal dominant","MONDO:0859223","https://search.clinicalgenome.org/kb/conditions/MONDO:0859223","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/29/2014)","0 - No Evidence for Triplosensitivity (08/29/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:6172","Dosage Working Group","definitive evidence (06/05/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e1b6f608-2884-4d76-96d4-35a5e9848a40-2025-06-05T160000.000Z","Congenital Disorders of Glycosylation","","",""
"STUB1","HGNC:11427","https://search.clinicalgenome.org/kb/genes/HGNC:11427","autosomal recessive spinocerebellar ataxia 16","MONDO:0014339","https://search.clinicalgenome.org/kb/conditions/MONDO:0014339","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11427","Dosage Working Group","","","","","",""
"STX11","HGNC:11429","https://search.clinicalgenome.org/kb/genes/HGNC:11429","familial hemophagocytic lymphohistiocytosis 4","MONDO:0011336","https://search.clinicalgenome.org/kb/conditions/MONDO:0011336","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11429","Dosage Working Group","definitive evidence (09/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9844bf07-9887-4a28-b644-467b664fcb80-2023-09-19T160000.000Z","Primary Immune Regulatory Disorders","","",""
"STX1B","HGNC:18539","https://search.clinicalgenome.org/kb/genes/HGNC:18539","generalized epilepsy with febrile seizures plus","MONDO:0018214","https://search.clinicalgenome.org/kb/conditions/MONDO:0018214","Autosomal dominant inheritance","","","","","definitive evidence (06/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b9a9e0e-b3d5-4340-8853-0ae6e7c390fd-2023-06-20T190000.000Z","Epilepsy","","",""
"STXBP1","HGNC:11444","https://search.clinicalgenome.org/kb/genes/HGNC:11444","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/20/2013)","0 - No Evidence for Triplosensitivity (06/20/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11444","Dosage Working Group","definitive evidence (10/20/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8d21800-652f-431b-a5d8-4208d4e91d46-2017-10-20T160000.000Z","Epilepsy","","",""
"STXBP1","HGNC:11444","https://search.clinicalgenome.org/kb/genes/HGNC:11444","developmental and epileptic encephalopathy, 4","MONDO:0012812","https://search.clinicalgenome.org/kb/conditions/MONDO:0012812","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/20/2013)","0 - No Evidence for Triplosensitivity (06/20/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11444","Dosage Working Group","","","","","",""
"STXBP2","HGNC:11445","https://search.clinicalgenome.org/kb/genes/HGNC:11445","familial hemophagocytic lymphohistiocytosis 5","MONDO:0013135","https://search.clinicalgenome.org/kb/conditions/MONDO:0013135","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (07/09/2025)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11445","Dosage Working Group","definitive evidence (09/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b5c9256-89e0-4f97-a7ca-dd07bdd237f9-2023-09-19T160000.000Z","Primary Immune Regulatory Disorders","","",""
"SUCLA2","HGNC:11448","https://search.clinicalgenome.org/kb/genes/HGNC:11448","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","definitive evidence (04/18/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_eedc8c99-a02a-4a34-ba72-1b0fc975e63f-2019-04-18T180100.762Z","Mitochondrial Diseases","","",""
"SUCLG1","HGNC:11449","https://search.clinicalgenome.org/kb/genes/HGNC:11449","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11449","Dosage Working Group","moderate evidence (04/18/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fd0a5a96-69b8-47fb-9b7b-17de29439ecc-2019-04-18T181448.882Z","Mitochondrial Diseases","","",""
"SUCLG1","HGNC:11449","https://search.clinicalgenome.org/kb/genes/HGNC:11449","mitochondrial DNA depletion syndrome 9","MONDO:0009504","https://search.clinicalgenome.org/kb/conditions/MONDO:0009504","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11449","Dosage Working Group","","","","","",""
"SUFU","HGNC:16466","https://search.clinicalgenome.org/kb/genes/HGNC:16466","medulloblastoma","MONDO:0007959","https://search.clinicalgenome.org/kb/conditions/MONDO:0007959","Autosomal dominant inheritance","","","","","definitive evidence (10/11/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1408d8b1-015c-48b3-a28e-d99b5545fce8-2018-10-11T184215.077Z","Hereditary Cancer","","",""
"SUFU","HGNC:16466","https://search.clinicalgenome.org/kb/genes/HGNC:16466","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","limited evidence (03/22/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59700c43-cff6-454e-895f-623c8cd68f8e-2023-03-22T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"SUGCT","HGNC:16001","https://search.clinicalgenome.org/kb/genes/HGNC:16001","glutaric acidemia type 3","MONDO:0009283","https://search.clinicalgenome.org/kb/conditions/MONDO:0009283","Autosomal recessive inheritance","","","","","moderate evidence (12/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_10622f19-d307-4fa8-b3ff-a799922e7fea-2024-12-13T170000.000Z","Aminoacidopathy","","",""
"SUMF1","HGNC:20376","https://search.clinicalgenome.org/kb/genes/HGNC:20376","mucosulfatidosis","MONDO:0010088","https://search.clinicalgenome.org/kb/conditions/MONDO:0010088","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20376","Dosage Working Group","definitive evidence (09/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d64d13d-c2dc-4749-8330-fade259ca381-2022-09-06T040000.000Z","Lysosomal Diseases GCEP","","",""
"SUOX","HGNC:11460","https://search.clinicalgenome.org/kb/genes/HGNC:11460","isolated sulfite oxidase deficiency","MONDO:0010089","https://search.clinicalgenome.org/kb/conditions/MONDO:0010089","Autosomal recessive inheritance","","","","","definitive evidence (03/22/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_be1ff294-4444-4d39-a507-a2115bcdcd58-2019-03-22T160000.000Z","Aminoacidopathy","","",""
"SURF1","HGNC:11474","https://search.clinicalgenome.org/kb/genes/HGNC:11474","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11474","Dosage Working Group","definitive evidence (04/08/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2ed17d9b-e746-4f1f-9c39-26f46bb2eadc-2019-04-08T160338.698Z","Mitochondrial Diseases","","",""
"SURF1","HGNC:11474","https://search.clinicalgenome.org/kb/genes/HGNC:11474","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11474","Dosage Working Group","definitive evidence (10/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bb277c3-4551-4bd1-ae88-ca2c8c56692e-2024-10-17T160000.000Z","Mitochondrial Diseases","","",""
"SYN1","HGNC:11494","https://search.clinicalgenome.org/kb/genes/HGNC:11494","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/12/2022)","0 - No Evidence for Triplosensitivity (07/12/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11494","Dosage Working Group","definitive evidence (04/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca5a3e64-5daa-4a2f-876d-4e7648c53ff8-2023-04-05T180000.000Z","Intellectual Disability and Autism","","",""
"SYNCRIP","HGNC:16918","https://search.clinicalgenome.org/kb/genes/HGNC:16918","SYNCRIP-related neurodevelopmental disorder","MONDO:0800456","https://search.clinicalgenome.org/kb/conditions/MONDO:0800456","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/15/2024)","0 - No Evidence for Triplosensitivity (04/15/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16918","Dosage Working Group","","","","","",""
"SYNE4","HGNC:26703","https://search.clinicalgenome.org/kb/genes/HGNC:26703","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26703","Dosage Working Group","moderate evidence (02/06/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7ba8e80d-ccfe-4c9d-a2a9-6abaa9dfacc6-2020-02-06T171016.249Z","Hearing Loss","","",""
"SYNE4","HGNC:26703","https://search.clinicalgenome.org/kb/genes/HGNC:26703","autosomal recessive nonsyndromic hearing loss 76","MONDO:0014237","https://search.clinicalgenome.org/kb/conditions/MONDO:0014237","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26703","Dosage Working Group","","","","","",""
"SYNGAP1","HGNC:11497","https://search.clinicalgenome.org/kb/genes/HGNC:11497","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/09/2021)","0 - No Evidence for Triplosensitivity (11/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11497","Dosage Working Group","definitive evidence (04/02/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b19f2a30-5538-4339-9018-150fd1bcd9c8-2019-04-02T160000.000Z","Epilepsy","","",""
"SYNJ1","HGNC:11503","https://search.clinicalgenome.org/kb/genes/HGNC:11503","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","","","","","definitive evidence (02/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a283140a-5d8d-47bb-9dff-32d091a16c7c-2022-02-10T044803.180Z","Epilepsy","","",""
"SYNPO","HGNC:30672","https://search.clinicalgenome.org/kb/genes/HGNC:30672","focal segmental glomerulosclerosis","MONDO:0100313","https://search.clinicalgenome.org/kb/conditions/MONDO:0100313","Autosomal dominant inheritance","","","","","limited evidence (11/13/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_12a82f02-cc6b-41a0-b2b7-7d8c18ff470b-2023-11-13T190000.000Z","Glomerulopathy","","",""
"SYP","HGNC:11506","https://search.clinicalgenome.org/kb/genes/HGNC:11506","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (09/26/2018)","0 - No Evidence for Triplosensitivity (09/26/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11506","Dosage Working Group","moderate evidence (12/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0d770a5-873c-4a55-98da-fa8d235ff93b-2020-12-15T230000.000Z","Intellectual Disability and Autism","","",""
"SYP","HGNC:11506","https://search.clinicalgenome.org/kb/genes/HGNC:11506","intellectual disability, X-linked 96","MONDO:0010429","https://search.clinicalgenome.org/kb/conditions/MONDO:0010429","N/A","1 - Little Evidence for Haploinsufficiency (09/26/2018)","0 - No Evidence for Triplosensitivity (09/26/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11506","Dosage Working Group","","","","","",""
"SYT14","HGNC:23143","https://search.clinicalgenome.org/kb/genes/HGNC:23143","autosomal recessive spinocerebellar ataxia 11","MONDO:0013645","https://search.clinicalgenome.org/kb/conditions/MONDO:0013645","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23143","Dosage Working Group","","","","","",""
"SYT2","HGNC:11510","https://search.clinicalgenome.org/kb/genes/HGNC:11510","congenital myasthenic syndrome 7","MONDO:0014468","https://search.clinicalgenome.org/kb/conditions/MONDO:0014468","Autosomal dominant inheritance","","","","","moderate evidence (07/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff8871e1-5eed-4414-8137-432d57f328d1-2023-07-12T160000.000Z","Charcot-Marie-Tooth","","",""
"SZT2","HGNC:29040","https://search.clinicalgenome.org/kb/genes/HGNC:29040","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","","","","","definitive evidence (02/02/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5c3ef40-481f-4e10-a99c-9d208ae9574b-2021-02-02T170000.000Z","Epilepsy","","",""
"TAB2","HGNC:17075","https://search.clinicalgenome.org/kb/genes/HGNC:17075","congenital heart defects, multiple types, 2","MONDO:0014000","https://search.clinicalgenome.org/kb/conditions/MONDO:0014000","N/A","1 - Little Evidence for Haploinsufficiency (05/27/2020)","0 - No Evidence for Triplosensitivity (05/27/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17075","Dosage Working Group","","","","","",""
"TACO1","HGNC:24316","https://search.clinicalgenome.org/kb/genes/HGNC:24316","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (10/16/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ae2fd0e4-db4e-4e17-bfc8-c43719066f97-2019-10-16T150433.004Z","Mitochondrial Diseases","","",""
"TACO1","HGNC:24316","https://search.clinicalgenome.org/kb/genes/HGNC:24316","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (04/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1e50ae4-9de7-4e26-a97d-6f2a77186955-2024-04-29T040000.000Z","Mitochondrial Diseases","","",""
"TACSTD2","HGNC:11530","https://search.clinicalgenome.org/kb/genes/HGNC:11530","gelatinous drop-like corneal dystrophy","MONDO:0008777","https://search.clinicalgenome.org/kb/conditions/MONDO:0008777","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11530","Dosage Working Group","","","","","",""
"TAF13","HGNC:11546","https://search.clinicalgenome.org/kb/genes/HGNC:11546","schizophrenia","MONDO:0005090","https://search.clinicalgenome.org/kb/conditions/MONDO:0005090","N/A","1 - Little Evidence for Haploinsufficiency (05/22/2019)","0 - No Evidence for Triplosensitivity (05/22/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11546","Dosage Working Group","","","","","",""
"TAF15","HGNC:11547","https://search.clinicalgenome.org/kb/genes/HGNC:11547","amyotrophic lateral sclerosis","MONDO:0004976","https://search.clinicalgenome.org/kb/conditions/MONDO:0004976","Autosomal dominant inheritance","","","","","limited evidence (11/03/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_605446ae-fd1f-4451-bd49-643c24cd652e-2021-11-03T020945.214Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"TAF2","HGNC:11536","https://search.clinicalgenome.org/kb/genes/HGNC:11536","microcephaly-thin corpus callosum-intellectual disability syndrome","MONDO:0014273","https://search.clinicalgenome.org/kb/conditions/MONDO:0014273","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11536","Dosage Working Group","","","","","",""
"TAFAZZIN","HGNC:11577","https://search.clinicalgenome.org/kb/genes/HGNC:11577","Barth syndrome","MONDO:0010543","https://search.clinicalgenome.org/kb/conditions/MONDO:0010543","X-linked inheritance","","","","","definitive evidence (02/12/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1629e6ab-9749-4949-bf54-fe1addf4dcfd-2021-02-12T170000.000Z","General Inborn Errors of Metabolism","","",""
"TANC2","HGNC:30212","https://search.clinicalgenome.org/kb/genes/HGNC:30212","intellectual developmental disorder with autistic features and language delay, with or without seizures","MONDO:0030051","https://search.clinicalgenome.org/kb/conditions/MONDO:0030051","Autosomal dominant inheritance","","","","","definitive evidence (09/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3d3d067-5a78-44b4-9c57-25cc784123bf-2022-09-07T160000.000Z","Intellectual Disability and Autism","","",""
"TAOK1","HGNC:29259","https://search.clinicalgenome.org/kb/genes/HGNC:29259","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/28/2023)","0 - No Evidence for Triplosensitivity (06/28/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29259","Dosage Working Group","definitive evidence (08/04/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_79c712d0-ac0e-4bf0-8e68-bd598b3bca42-2021-08-04T160000.000Z","Intellectual Disability and Autism","","",""
"TAP1","HGNC:43","https://search.clinicalgenome.org/kb/genes/HGNC:43","MHC class I deficiency","MONDO:0011476","https://search.clinicalgenome.org/kb/conditions/MONDO:0011476","Autosomal recessive inheritance","","","","","definitive evidence (07/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4f7ee853-d9f3-424e-9108-43931602d6df-2023-07-20T170000.000Z","SCID-CID","","",""
"TAP2","HGNC:44","https://search.clinicalgenome.org/kb/genes/HGNC:44","MHC class I deficiency","MONDO:0011476","https://search.clinicalgenome.org/kb/conditions/MONDO:0011476","Autosomal recessive inheritance","","","","","strong evidence (02/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d34f7639-eb52-4a29-90e0-27dbdaeec334-2024-02-06T180000.000Z","SCID-CID","","",""
"TAPBP","HGNC:11566","https://search.clinicalgenome.org/kb/genes/HGNC:11566","MHC class I deficiency","MONDO:0011476","https://search.clinicalgenome.org/kb/conditions/MONDO:0011476","Autosomal recessive inheritance","","","","","moderate evidence (06/27/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a75f4ea4-61e9-4a22-a6e9-d67c8b7a02e4-2025-06-27T170000.000Z","SCID-CID","","",""
"TARDBP","HGNC:11571","https://search.clinicalgenome.org/kb/genes/HGNC:11571","amyotrophic lateral sclerosis type 10","MONDO:0012790","https://search.clinicalgenome.org/kb/conditions/MONDO:0012790","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/25/2018)","0 - No Evidence for Triplosensitivity (09/25/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11571","Dosage Working Group","definitive evidence (07/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bf8bf781-25c9-4f16-b8cc-b0533390e4e2-2021-07-27T160623.437Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"TARS2","HGNC:30740","https://search.clinicalgenome.org/kb/genes/HGNC:30740","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (06/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_475a994f-8420-45bb-8f14-9fe85cdcdbbc-2021-06-14T144425.888Z","Mitochondrial Diseases","","",""
"TAT","HGNC:11573","https://search.clinicalgenome.org/kb/genes/HGNC:11573","tyrosinemia type II","MONDO:0010160","https://search.clinicalgenome.org/kb/conditions/MONDO:0010160","Autosomal recessive inheritance","","","","","definitive evidence (06/29/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a28aa11-78af-4c3b-900e-79c6a1e9339a-2020-06-29T174208.705Z","Aminoacidopathy","","",""
"TBC1D20","HGNC:16133","https://search.clinicalgenome.org/kb/genes/HGNC:16133","Warburg micro syndrome 4","MONDO:0014296","https://search.clinicalgenome.org/kb/conditions/MONDO:0014296","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16133","Dosage Working Group","","","","","",""
"TBC1D24","HGNC:29203","https://search.clinicalgenome.org/kb/genes/HGNC:29203","DOORS syndrome","MONDO:0009079","https://search.clinicalgenome.org/kb/conditions/MONDO:0009079","Autosomal recessive inheritance","","","","","definitive evidence (03/11/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0fcb9839-6798-4195-8959-08d45bc63339-2020-03-11T132031.642Z","Hearing Loss","","",""
"TBC1D24","HGNC:29203","https://search.clinicalgenome.org/kb/genes/HGNC:29203","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","limited evidence (06/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd496a45-5ae0-4e56-8a3d-2c410a5bd0c8-2024-06-25T160000.000Z","Hearing Loss","","",""
"TBC1D8B","HGNC:24715","https://search.clinicalgenome.org/kb/genes/HGNC:24715","nephrotic syndrome, type 20","MONDO:0026726","https://search.clinicalgenome.org/kb/conditions/MONDO:0026726","X-linked inheritance","","","","","moderate evidence (04/25/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6eac03e8-0b58-427e-b174-8ada5fad1f1c-2023-04-25T023000.000Z","Glomerulopathy","","",""
"TBCD","HGNC:11581","https://search.clinicalgenome.org/kb/genes/HGNC:11581","early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome","MONDO:0044646","https://search.clinicalgenome.org/kb/conditions/MONDO:0044646","Autosomal recessive inheritance","","","","","definitive evidence (03/13/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1ac5fbd-0d8e-4b6e-a8c4-d21f966a350f-2025-03-13T190000.000Z","Brain Malformations","","",""
"TBCE","HGNC:11582","https://search.clinicalgenome.org/kb/genes/HGNC:11582","encephalopathy, progressive, with amyotrophy and optic atrophy","MONDO:0014968","https://search.clinicalgenome.org/kb/conditions/MONDO:0014968","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/17/2012)","0 - No Evidence for Triplosensitivity (05/17/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11582","Dosage Working Group","moderate evidence (02/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f9500f5-48e8-49dc-b29a-3845056778ab-2025-02-25T180000.000Z","Brain Malformations","","",""
"TBCE","HGNC:11582","https://search.clinicalgenome.org/kb/genes/HGNC:11582","hypoparathyroidism-retardation-dysmorphism syndrome","MONDO:0009426","https://search.clinicalgenome.org/kb/conditions/MONDO:0009426","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (05/17/2012)","0 - No Evidence for Triplosensitivity (05/17/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11582","Dosage Working Group","","","","","",""
"TBCK","HGNC:28261","https://search.clinicalgenome.org/kb/genes/HGNC:28261","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","Autosomal recessive inheritance","","","","","definitive evidence (02/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1df2bd2a-9170-401b-b680-5f8613043b33-2024-02-07T200000.000Z","Intellectual Disability and Autism","","",""
"TBK1","HGNC:11584","https://search.clinicalgenome.org/kb/genes/HGNC:11584","frontotemporal dementia and/or amyotrophic lateral sclerosis 4","MONDO:0014641","https://search.clinicalgenome.org/kb/conditions/MONDO:0014641","Autosomal dominant inheritance","","","","","definitive evidence (11/03/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_509b9e29-d354-4974-96e9-e819c3fee579-2022-11-03T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"TBL1XR1","HGNC:29529","https://search.clinicalgenome.org/kb/genes/HGNC:29529","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/27/2019)","1 - Little Evidence for Triplosensitivity (03/27/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29529","Dosage Working Group","definitive evidence (07/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8352a921-43c0-4097-9147-2618a4165b57-2020-07-07T170000.000Z","Intellectual Disability and Autism","","",""
"TBL1XR1","HGNC:29529","https://search.clinicalgenome.org/kb/genes/HGNC:29529","intellectual disability, autosomal dominant 41","MONDO:0014842","https://search.clinicalgenome.org/kb/conditions/MONDO:0014842","N/A","3 - Sufficient Evidence for Haploinsufficiency (03/27/2019)","1 - Little Evidence for Triplosensitivity (03/27/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29529","Dosage Working Group","","","","","",""
"TBR1","HGNC:11590","https://search.clinicalgenome.org/kb/genes/HGNC:11590","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/24/2018)","0 - No Evidence for Triplosensitivity (01/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11590","Dosage Working Group","definitive evidence (03/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_853c90ef-34a8-4d7d-931d-5fb4add3e4d0-2020-03-25T160000.000Z","Intellectual Disability and Autism","","",""
"TBX1","HGNC:11592","https://search.clinicalgenome.org/kb/genes/HGNC:11592","velocardiofacial syndrome","MONDO:0008644","https://search.clinicalgenome.org/kb/conditions/MONDO:0008644","N/A","1 - Little Evidence for Haploinsufficiency (06/11/2024)","0 - No Evidence for Triplosensitivity (06/11/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11592","Dosage Working Group","","","","","",""
"TBX20","HGNC:11598","https://search.clinicalgenome.org/kb/genes/HGNC:11598","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","2 - Emerging Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11598","Dosage Working Group","strong evidence (05/02/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58a014d9-2d97-4041-961d-cfd09fa11adf-2025-05-02T160000.000Z","Dilated Cardiomyopathy","","",""
"TBX20","HGNC:11598","https://search.clinicalgenome.org/kb/genes/HGNC:11598","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","2 - Emerging Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11598","Dosage Working Group","moderate evidence (05/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67706e90-ac03-4b96-94e2-4a561ced4a41-2024-05-07T050000.000Z","Congenital Heart Disease","","",""
"TBX20","HGNC:11598","https://search.clinicalgenome.org/kb/genes/HGNC:11598","heart disorder","MONDO:0005267","https://search.clinicalgenome.org/kb/conditions/MONDO:0005267","N/A","2 - Emerging Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11598","Dosage Working Group","","","","","",""
"TBX22","HGNC:11600","https://search.clinicalgenome.org/kb/genes/HGNC:11600","cleft palate with or without ankyloglossia, X-linked","MONDO:0010560","https://search.clinicalgenome.org/kb/conditions/MONDO:0010560","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/28/2023)","0 - No Evidence for Triplosensitivity (03/28/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11600","Dosage Working Group","definitive evidence (09/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7700e51-c293-487b-a06a-1392fb1b6209-2024-09-19T160000.000Z","Craniofacial Malformations","","",""
"TBX3","HGNC:11602","https://search.clinicalgenome.org/kb/genes/HGNC:11602","ulnar-mammary syndrome","MONDO:0008411","https://search.clinicalgenome.org/kb/conditions/MONDO:0008411","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/23/2020)","0 - No Evidence for Triplosensitivity (09/23/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11602","Dosage Working Group","","","","","",""
"TBX4","HGNC:11603","https://search.clinicalgenome.org/kb/genes/HGNC:11603","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/11/2019)","0 - No Evidence for Triplosensitivity (12/11/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11603","Dosage Working Group","definitive evidence (03/10/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b8cc228-67d2-4530-8129-ebafee7fafa1-2021-03-10T214611.990Z","Pulmonary Hypertension","","",""
"TBX4","HGNC:11603","https://search.clinicalgenome.org/kb/genes/HGNC:11603","coxopodopatellar syndrome","MONDO:0007841","https://search.clinicalgenome.org/kb/conditions/MONDO:0007841","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/11/2019)","0 - No Evidence for Triplosensitivity (12/11/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11603","Dosage Working Group","","","","","",""
"TBX5","HGNC:11604","https://search.clinicalgenome.org/kb/genes/HGNC:11604","Holt-Oram syndrome","MONDO:0007732","https://search.clinicalgenome.org/kb/conditions/MONDO:0007732","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/29/2020)","0 - No Evidence for Triplosensitivity (07/29/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11604","Dosage Working Group","definitive evidence (03/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_24e6c85a-33cf-4248-be1f-6431c7c6b1e5-2025-03-25T160000.000Z","Syndromic Disorders","","",""
"TBXA2R","HGNC:11608","https://search.clinicalgenome.org/kb/genes/HGNC:11608","qualitative platelet defect","MONDO:0001197","https://search.clinicalgenome.org/kb/conditions/MONDO:0001197","Autosomal dominant inheritance","","","","","moderate evidence (09/03/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab65570e-c07b-402c-99c0-322df4a86ee4-2025-09-03T160000.000Z","Hemostasis Thrombosis","","",""
"TBXAS1","HGNC:11609","https://search.clinicalgenome.org/kb/genes/HGNC:11609","ghosal hematodiaphyseal dysplasia","MONDO:0009274","https://search.clinicalgenome.org/kb/conditions/MONDO:0009274","Autosomal recessive inheritance","","","","","moderate evidence (06/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_612c46e2-8b4f-4bff-9d8b-28769d8854e2-2023-06-07T160000.000Z","Hemostasis Thrombosis","","",""
"TCAP","HGNC:11610","https://search.clinicalgenome.org/kb/genes/HGNC:11610","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","disputing (09/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c35abc20-c04c-49ec-af02-1bd270b0b50b-2022-09-14T160000.000Z","Hereditary Cardiovascular Disease","","",""
"TCAP","HGNC:11610","https://search.clinicalgenome.org/kb/genes/HGNC:11610","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","limited evidence (04/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4c8ab9d8-919a-443f-b027-5aec92b273d1-2025-04-18T040000.000Z","Dilated Cardiomyopathy","","",""
"TCAP","HGNC:11610","https://search.clinicalgenome.org/kb/genes/HGNC:11610","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","","","","","definitive evidence (08/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3c6c72e-7c2b-42d4-963b-aeddbbe0e4fc-2024-08-14T190000.000Z","Muscular Dystrophies and Myopathies","","",""
"TCF12","HGNC:11623","https://search.clinicalgenome.org/kb/genes/HGNC:11623","TCF12-related craniosynostosis","MONDO:0014128","https://search.clinicalgenome.org/kb/conditions/MONDO:0014128","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/16/2023)","0 - No Evidence for Triplosensitivity (08/16/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11623","Dosage Working Group","definitive evidence (01/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_11e46ed0-dbfb-4151-ba1c-cc56214d6ca6-2021-01-28T170000.000Z","Craniofacial Malformations","","",""
"TCF20","HGNC:11631","https://search.clinicalgenome.org/kb/genes/HGNC:11631","developmental delay with variable intellectual impairment and behavioral abnormalities","MONDO:0032745","https://search.clinicalgenome.org/kb/conditions/MONDO:0032745","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/26/2019)","0 - No Evidence for Triplosensitivity (06/26/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11631","Dosage Working Group","definitive evidence (10/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_619ae2be-5ab6-418d-8824-373369337faa-2020-10-07T172001.182Z","Syndromic Disorders","","",""
"TCF20","HGNC:11631","https://search.clinicalgenome.org/kb/genes/HGNC:11631","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/26/2019)","0 - No Evidence for Triplosensitivity (06/26/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11631","Dosage Working Group","","","","","",""
"TCF21","HGNC:11632","https://search.clinicalgenome.org/kb/genes/HGNC:11632","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Mode of inheritance","","","","","no known disease relationship (06/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_34077807-a187-4e2c-b06b-8510fd6e5788-2024-06-10T160000.000Z","Congenital Heart Disease","","",""
"TCF3","HGNC:11633","https://search.clinicalgenome.org/kb/genes/HGNC:11633","autosomal agammaglobulinemia","MONDO:0011096","https://search.clinicalgenome.org/kb/conditions/MONDO:0011096","Semidominant inheritance","","","","","definitive evidence (01/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_402ff7db-2e09-4e76-9284-1e7c4ae84fb3-2023-01-07T120000.000Z","Antibody Deficiencies GCEP","","",""
"TCF4","HGNC:11634","https://search.clinicalgenome.org/kb/genes/HGNC:11634","Pitt-Hopkins syndrome","MONDO:0012589","https://search.clinicalgenome.org/kb/conditions/MONDO:0012589","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/08/2020)","0 - No Evidence for Triplosensitivity (07/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11634","Dosage Working Group","definitive evidence (05/02/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_096f830c-0065-456a-9e26-db54fd157981-2018-05-02T170000.000Z","Rett and Angelman-like Disorders","","",""
"TCF7L2","HGNC:11641","https://search.clinicalgenome.org/kb/genes/HGNC:11641","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (03/27/2019)","0 - No Evidence for Triplosensitivity (03/27/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11641","Dosage Working Group","definitive evidence (12/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b11a5317-868b-49a9-b051-721940fb5936-2021-12-15T170000.000Z","Intellectual Disability and Autism","","",""
"TCIRG1","HGNC:11647","https://search.clinicalgenome.org/kb/genes/HGNC:11647","autosomal recessive osteopetrosis 1","MONDO:0009815","https://search.clinicalgenome.org/kb/conditions/MONDO:0009815","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11647","Dosage Working Group","definitive evidence (09/28/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0ac31a88-733f-4783-bfb7-8eecba7a70f1-2023-09-28T160000.000Z","Skeletal Disorders","","",""
"TCIRG1","HGNC:11647","https://search.clinicalgenome.org/kb/genes/HGNC:11647","dysosteosclerosis","MONDO:0009138","https://search.clinicalgenome.org/kb/conditions/MONDO:0009138","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11647","Dosage Working Group","limited evidence (12/04/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_510894e0-bd9e-4929-aae1-ac548138ab6c-2023-12-04T170000.000Z","Skeletal Disorders","","",""
"TCN2","HGNC:11653","https://search.clinicalgenome.org/kb/genes/HGNC:11653","transcobalamin II deficiency","MONDO:0010149","https://search.clinicalgenome.org/kb/conditions/MONDO:0010149","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11653","Dosage Working Group","definitive evidence (08/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2336cc7-730e-4205-8b2b-f1e1acfbd1f3-2025-08-21T160000.000Z","SCID-CID","","",""
"TCOF1","HGNC:11654","https://search.clinicalgenome.org/kb/genes/HGNC:11654","Treacher-Collins syndrome","MONDO:0002457","https://search.clinicalgenome.org/kb/conditions/MONDO:0002457","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/28/2021)","0 - No Evidence for Triplosensitivity (04/28/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11654","Dosage Working Group","definitive evidence (09/17/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f91c5fe-8e58-4c98-9878-e428e2e41dd7-2019-09-17T160000.000Z","Hearing Loss","","",""
"TCOF1","HGNC:11654","https://search.clinicalgenome.org/kb/genes/HGNC:11654","Treacher Collins syndrome 1","MONDO:0007944","https://search.clinicalgenome.org/kb/conditions/MONDO:0007944","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/28/2021)","0 - No Evidence for Triplosensitivity (04/28/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11654","Dosage Working Group","","","","","",""
"TCTN1","HGNC:26113","https://search.clinicalgenome.org/kb/genes/HGNC:26113","Joubert syndrome 13","MONDO:0013608","https://search.clinicalgenome.org/kb/conditions/MONDO:0013608","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (03/23/2015)","0 - No Evidence for Triplosensitivity (03/23/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26113","Dosage Working Group","","","","","",""
"TCTN2","HGNC:25774","https://search.clinicalgenome.org/kb/genes/HGNC:25774","Joubert syndrome 24","MONDO:0014724","https://search.clinicalgenome.org/kb/conditions/MONDO:0014724","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25774","Dosage Working Group","definitive evidence (07/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82bc1eb0-882b-48a2-a29f-23bec8d75def-2023-07-27T160000.000Z","Syndromic Disorders","","",""
"TCTN2","HGNC:25774","https://search.clinicalgenome.org/kb/genes/HGNC:25774","Meckel syndrome, type 8","MONDO:0013482","https://search.clinicalgenome.org/kb/conditions/MONDO:0013482","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25774","Dosage Working Group","","","","","",""
"TCTN3","HGNC:24519","https://search.clinicalgenome.org/kb/genes/HGNC:24519","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","definitive evidence (11/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f2d88e7f-2d6d-423f-8602-c89b76849bef-2022-11-10T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"TDO2","HGNC:11708","https://search.clinicalgenome.org/kb/genes/HGNC:11708","familial hypertryptophanemia","MONDO:0010907","https://search.clinicalgenome.org/kb/conditions/MONDO:0010907","Autosomal recessive inheritance","","","","","limited evidence (11/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b20a4b6d-c43c-4397-bbd2-3d4c6ea6f0e0-2023-11-17T170000.000Z","Aminoacidopathy","","",""
"TDP1","HGNC:18884","https://search.clinicalgenome.org/kb/genes/HGNC:18884","spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1","MONDO:0011801","https://search.clinicalgenome.org/kb/conditions/MONDO:0011801","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18884","Dosage Working Group","","","","","",""
"TECPR2","HGNC:19957","https://search.clinicalgenome.org/kb/genes/HGNC:19957","hereditary spastic paraplegia 49","MONDO:0014016","https://search.clinicalgenome.org/kb/conditions/MONDO:0014016","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19957","Dosage Working Group","","","","","",""
"TECR","HGNC:4551","https://search.clinicalgenome.org/kb/genes/HGNC:4551","intellectual disability","MONDO:0001071","https://search.clinicalgenome.org/kb/conditions/MONDO:0001071","Autosomal recessive inheritance","","","","","limited evidence (03/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8c7adee2-6a14-4348-a018-9097954bd39d-2022-03-10T070000.000Z","Intellectual Disability and Autism","","",""
"TECRL","HGNC:27365","https://search.clinicalgenome.org/kb/genes/HGNC:27365","catecholaminergic polymorphic ventricular tachycardia","MONDO:0017990","https://search.clinicalgenome.org/kb/conditions/MONDO:0017990","Autosomal recessive inheritance","","","","","definitive evidence (01/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6889dc44-eef0-4a4d-8fdb-aef2dc570f29-2021-01-20T170000.000Z","Catecholaminergic Polymorphic Ventricular Tachycardia","Strong Actionability (03/11/2021) | Strong Actionability (03/11/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC042"," | "
"TECRL","HGNC:27365","https://search.clinicalgenome.org/kb/genes/HGNC:27365","catecholaminergic polymorphic ventricular tachycardia 3","MONDO:0013529","https://search.clinicalgenome.org/kb/conditions/MONDO:0013529","N/A","","","","","","","","Strong Actionability (03/11/2021) | Strong Actionability (03/11/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC042"," | "
"TECTA","HGNC:11720","https://search.clinicalgenome.org/kb/genes/HGNC:11720","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance | Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/07/2018)","0 - No Evidence for Triplosensitivity (02/07/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11720","Dosage Working Group","definitive evidence (01/02/2018) | definitive evidence (01/02/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c7395aa-89bb-40e2-a226-0500fef478bb-2018-01-02T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95b38b73-f807-4401-9600-fe1f319b9dd9-2018-01-02T170000.000Z","Hearing Loss | Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TECTA","HGNC:11720","https://search.clinicalgenome.org/kb/genes/HGNC:11720","autosomal dominant nonsyndromic hearing loss","MONDO:0019587","https://search.clinicalgenome.org/kb/conditions/MONDO:0019587","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (02/07/2018)","0 - No Evidence for Triplosensitivity (02/07/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11720","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TECTA","HGNC:11720","https://search.clinicalgenome.org/kb/genes/HGNC:11720","autosomal dominant nonsyndromic hearing loss 12","MONDO:0011102","https://search.clinicalgenome.org/kb/conditions/MONDO:0011102","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (02/07/2018)","0 - No Evidence for Triplosensitivity (02/07/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11720","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TECTA","HGNC:11720","https://search.clinicalgenome.org/kb/genes/HGNC:11720","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (02/07/2018)","0 - No Evidence for Triplosensitivity (02/07/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11720","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TECTA","HGNC:11720","https://search.clinicalgenome.org/kb/genes/HGNC:11720","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (02/07/2018)","0 - No Evidence for Triplosensitivity (02/07/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11720","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TECTA","HGNC:11720","https://search.clinicalgenome.org/kb/genes/HGNC:11720","autosomal recessive nonsyndromic hearing loss 21","MONDO:0011351","https://search.clinicalgenome.org/kb/conditions/MONDO:0011351","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (02/07/2018)","0 - No Evidence for Triplosensitivity (02/07/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11720","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TEK","HGNC:11724","https://search.clinicalgenome.org/kb/genes/HGNC:11724","TEK-related primary glaucoma","MONDO:0800182","https://search.clinicalgenome.org/kb/conditions/MONDO:0800182","Autosomal dominant inheritance","","","","","definitive evidence (08/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20f13e3f-f927-46c1-b5ed-919f696a7687-2022-08-18T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"TEKT1","HGNC:15534","https://search.clinicalgenome.org/kb/genes/HGNC:15534","primary ciliary dyskinesia","MONDO:0016575","https://search.clinicalgenome.org/kb/conditions/MONDO:0016575","Autosomal recessive inheritance","","","","","disputing (03/13/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0667db63-0608-44d0-b65b-21fbe48d984e-2025-03-13T160000.000Z","Motile Ciliopathy GCEP","","",""
"TELO2","HGNC:29099","https://search.clinicalgenome.org/kb/genes/HGNC:29099","TELO2-related intellectual disability-neurodevelopmental disorder","MONDO:0014848","https://search.clinicalgenome.org/kb/conditions/MONDO:0014848","Autosomal recessive inheritance","","","","","definitive evidence (06/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6995e858-919b-4a08-be40-54a56371a408-2022-06-01T160000.000Z","Intellectual Disability and Autism","","",""
"TERC","HGNC:11727","https://search.clinicalgenome.org/kb/genes/HGNC:11727","dyskeratosis congenita, autosomal dominant 1","MONDO:0007485","https://search.clinicalgenome.org/kb/conditions/MONDO:0007485","Autosomal dominant inheritance","","","","","definitive evidence (11/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfdf86d0-9441-40bf-a1da-ab2c85f775cd-2024-11-25T170000.000Z","Interstitial Lung Disease","","",""
"TERT","HGNC:11730","https://search.clinicalgenome.org/kb/genes/HGNC:11730","dyskeratosis congenita, autosomal dominant 2","MONDO:0013521","https://search.clinicalgenome.org/kb/conditions/MONDO:0013521","Semidominant inheritance","1 - Little Evidence for Haploinsufficiency (06/24/2025)","0 - No Evidence for Triplosensitivity (06/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11730","Dosage Working Group","definitive evidence (07/30/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afb6ea76-e8ac-4a38-b42c-23fc18a9623b-2020-07-30T205843.081Z","Hereditary Cancer","","",""
"TET2","HGNC:25941","https://search.clinicalgenome.org/kb/genes/HGNC:25941","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","moderate evidence (02/24/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c056edd-f72b-43e9-ba40-7504f285cf5a-2025-02-24T170000.000Z","Pulmonary Hypertension","","",""
"TET3","HGNC:28313","https://search.clinicalgenome.org/kb/genes/HGNC:28313","Beck-Fahrner syndrome","MONDO:0032922","https://search.clinicalgenome.org/kb/conditions/MONDO:0032922","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","definitive evidence (11/17/2023) | limited evidence (11/17/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbafb28e-a0b7-4e60-813a-6f12ddcd2bd2-2023-11-17T170000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_57cad65b-fa25-426c-a246-b194f7f961ce-2023-11-17T170000.000Z","Syndromic Disorders | Syndromic Disorders","","",""
"TF","HGNC:11740","https://search.clinicalgenome.org/kb/genes/HGNC:11740","atransferrinemia","MONDO:0008846","https://search.clinicalgenome.org/kb/conditions/MONDO:0008846","Autosomal recessive inheritance","","","","","moderate evidence (09/26/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8191bb4-d729-4004-9b68-2d4aee81bd7d-2025-09-26T070000.000Z","General Inborn Errors of Metabolism","","",""
"TFAP2B","HGNC:11743","https://search.clinicalgenome.org/kb/genes/HGNC:11743","TFAP2B-related congenital heart disease spectrum disorder","MONDO:1010098","https://search.clinicalgenome.org/kb/conditions/MONDO:1010098","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/11/2023)","0 - No Evidence for Triplosensitivity (04/11/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11743","Dosage Working Group","definitive evidence (10/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1da86355-6e52-4f93-b437-a970ae45df66-2024-10-02T160000.000Z","Syndromic Disorders","","",""
"TFAP2B","HGNC:11743","https://search.clinicalgenome.org/kb/genes/HGNC:11743","Char syndrome","MONDO:0008209","https://search.clinicalgenome.org/kb/conditions/MONDO:0008209","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/11/2023)","0 - No Evidence for Triplosensitivity (04/11/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11743","Dosage Working Group","","","","","",""
"TFE3","HGNC:11752","https://search.clinicalgenome.org/kb/genes/HGNC:11752","X-linked syndromic complex neurodevelopmental disorder","MONDO:1040018","https://search.clinicalgenome.org/kb/conditions/MONDO:1040018","X-linked inheritance","","","","","definitive evidence (03/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4d36998f-4d2a-4485-bf51-ce5275fb86d7-2024-03-19T160000.000Z","Intellectual Disability and Autism","","",""
"TFR2","HGNC:11762","https://search.clinicalgenome.org/kb/genes/HGNC:11762","hemochromatosis type 3","MONDO:0011417","https://search.clinicalgenome.org/kb/conditions/MONDO:0011417","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11762","Dosage Working Group","definitive evidence (08/22/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f0c700b-3f93-465d-8a23-7c4cf6d4afde-2025-08-22T160000.000Z","General Inborn Errors of Metabolism","","",""
"TFRC","HGNC:11763","https://search.clinicalgenome.org/kb/genes/HGNC:11763","TFRC-related combined immunodeficiency","MONDO:0014760","https://search.clinicalgenome.org/kb/conditions/MONDO:0014760","Autosomal recessive inheritance","","","","","definitive evidence (03/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d4f6437-081d-41e9-992a-afb73b72ef3b-2025-03-20T160000.000Z","SCID-CID","","",""
"TGDS","HGNC:20324","https://search.clinicalgenome.org/kb/genes/HGNC:20324","Catel-Manzke syndrome","MONDO:0014507","https://search.clinicalgenome.org/kb/conditions/MONDO:0014507","Autosomal recessive inheritance","","","","","definitive evidence (07/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_394662b6-d975-4041-a9ea-308f0d6e1bee-2024-07-18T160000.000Z","Craniofacial Malformations","","",""
"TGFB1","HGNC:11766","https://search.clinicalgenome.org/kb/genes/HGNC:11766","inflammatory bowel disease, immunodeficiency, and encephalopathy","MONDO:0032601","https://search.clinicalgenome.org/kb/conditions/MONDO:0032601","Autosomal recessive inheritance","","","","","limited evidence (11/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5f9c2f55-4055-4acf-841a-4d37df8e7af8-2024-11-19T170000.000Z","Primary Immune Regulatory Disorders","","",""
"TGFB2","HGNC:11768","https://search.clinicalgenome.org/kb/genes/HGNC:11768","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","","","","","definitive evidence (05/06/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8254","Heritable Thoracic Aortic Aneurysm and Dissection","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC134 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC134"," | "
"TGFB2","HGNC:11768","https://search.clinicalgenome.org/kb/genes/HGNC:11768","Loeys-Dietz syndrome","MONDO:0018954","https://search.clinicalgenome.org/kb/conditions/MONDO:0018954","N/A","","","","","","","","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC067 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC067"," | "
"TGFB2","HGNC:11768","https://search.clinicalgenome.org/kb/genes/HGNC:11768","Loeys-Dietz syndrome 4","MONDO:0013897","https://search.clinicalgenome.org/kb/conditions/MONDO:0013897","N/A","","","","","","","","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC067 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC067"," | "
"TGFB3","HGNC:11769","https://search.clinicalgenome.org/kb/genes/HGNC:11769","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","","","","","limited evidence (12/22/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8266","Heritable Thoracic Aortic Aneurysm and Dissection","","",""
"TGFB3","HGNC:11769","https://search.clinicalgenome.org/kb/genes/HGNC:11769","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","","","","","limited evidence (08/16/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_36ed9be9-2854-49e5-801c-a8fd65fec98e-2019-08-16T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"TGFB3","HGNC:11769","https://search.clinicalgenome.org/kb/genes/HGNC:11769","Rienhoff syndrome","MONDO:0014262","https://search.clinicalgenome.org/kb/conditions/MONDO:0014262","N/A","","","","","","","","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC067 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC067"," | "
"TGFB3","HGNC:11769","https://search.clinicalgenome.org/kb/genes/HGNC:11769","Loeys-Dietz syndrome","MONDO:0018954","https://search.clinicalgenome.org/kb/conditions/MONDO:0018954","N/A","","","","","","","","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC067 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC067"," | "
"TGFBR1","HGNC:11772","https://search.clinicalgenome.org/kb/genes/HGNC:11772","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/13/2024)","0 - No Evidence for Triplosensitivity (02/13/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11772","Dosage Working Group","definitive evidence (10/12/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8255","Heritable Thoracic Aortic Aneurysm and Dissection","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC134 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC134"," | "
"TGFBR1","HGNC:11772","https://search.clinicalgenome.org/kb/genes/HGNC:11772","multiple self-healing squamous epithelioma","MONDO:0007566","https://search.clinicalgenome.org/kb/conditions/MONDO:0007566","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/13/2024)","0 - No Evidence for Triplosensitivity (02/13/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11772","Dosage Working Group","definitive evidence (12/20/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_570947a0-3e45-419c-bc22-0fdc60ca6009-2019-12-20T212550.834Z","Hereditary Cancer","","",""
"TGFBR1","HGNC:11772","https://search.clinicalgenome.org/kb/genes/HGNC:11772","Loeys-Dietz syndrome","MONDO:0018954","https://search.clinicalgenome.org/kb/conditions/MONDO:0018954","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/13/2024)","0 - No Evidence for Triplosensitivity (02/13/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11772","Dosage Working Group","definitive evidence (03/27/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a546ce2-432c-4c8a-90e5-97293d7938be-2019-03-27T160000.000Z","General Gene Curation","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC067 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC067"," | "
"TGFBR1","HGNC:11772","https://search.clinicalgenome.org/kb/genes/HGNC:11772","Loeys-Dietz syndrome 1","MONDO:0012212","https://search.clinicalgenome.org/kb/conditions/MONDO:0012212","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/13/2024)","0 - No Evidence for Triplosensitivity (02/13/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11772","Dosage Working Group","","","","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC067 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC067"," | "
"TGFBR2","HGNC:11773","https://search.clinicalgenome.org/kb/genes/HGNC:11773","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (06/26/2024)","0 - No Evidence for Triplosensitivity (06/26/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11773","Dosage Working Group","definitive evidence (02/15/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8256","Heritable Thoracic Aortic Aneurysm and Dissection","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC134 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC134"," | "
"TGFBR2","HGNC:11773","https://search.clinicalgenome.org/kb/genes/HGNC:11773","Loeys-Dietz syndrome 2","MONDO:0012427","https://search.clinicalgenome.org/kb/conditions/MONDO:0012427","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (06/26/2024)","0 - No Evidence for Triplosensitivity (06/26/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11773","Dosage Working Group","definitive evidence (11/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_73be8b4f-d823-44e5-ab76-faa3bc8eca84-2020-11-25T180000.000Z","General Gene Curation","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC067 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC067"," | "
"TGFBR2","HGNC:11773","https://search.clinicalgenome.org/kb/genes/HGNC:11773","Loeys-Dietz syndrome","MONDO:0018954","https://search.clinicalgenome.org/kb/conditions/MONDO:0018954","N/A","0 - No Evidence for Haploinsufficiency (06/26/2024)","0 - No Evidence for Triplosensitivity (06/26/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11773","Dosage Working Group","","","","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC067 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC067"," | "
"TGIF1","HGNC:11776","https://search.clinicalgenome.org/kb/genes/HGNC:11776","holoprosencephaly 4","MONDO:0007734","https://search.clinicalgenome.org/kb/conditions/MONDO:0007734","N/A","3 - Sufficient Evidence for Haploinsufficiency (05/10/2012)","0 - No Evidence for Triplosensitivity (05/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11776","Dosage Working Group","","","","","",""
"TGM1","HGNC:11777","https://search.clinicalgenome.org/kb/genes/HGNC:11777","autosomal recessive congenital ichthyosis 1","MONDO:0009441","https://search.clinicalgenome.org/kb/conditions/MONDO:0009441","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11777","Dosage Working Group","","","","","",""
"TGM5","HGNC:11781","https://search.clinicalgenome.org/kb/genes/HGNC:11781","acral peeling skin syndrome","MONDO:0012345","https://search.clinicalgenome.org/kb/conditions/MONDO:0012345","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11781","Dosage Working Group","","","","","",""
"TH","HGNC:11782","https://search.clinicalgenome.org/kb/genes/HGNC:11782","tyrosine hydroxylase deficiency","MONDO:0100064","https://search.clinicalgenome.org/kb/conditions/MONDO:0100064","Autosomal recessive inheritance","","","","","definitive evidence (03/22/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c4bf9fbb-0046-4a90-9e74-0b3b79f28f59-2019-03-22T160000.000Z","Aminoacidopathy","","",""
"THAP11","HGNC:23194","https://search.clinicalgenome.org/kb/genes/HGNC:23194","methylmalonic aciduria and homocystinuria","MONDO:0016826","https://search.clinicalgenome.org/kb/conditions/MONDO:0016826","Autosomal recessive inheritance","","","","","limited evidence (02/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6976fdb2-7650-46b7-887c-454666f23bc8-2024-02-09T170000.000Z","General Inborn Errors of Metabolism","","",""
"THBD","HGNC:11784","https://search.clinicalgenome.org/kb/genes/HGNC:11784","thrombomodulin-related bleeding disorder","MONDO:0013775","https://search.clinicalgenome.org/kb/conditions/MONDO:0013775","Autosomal recessive inheritance | Autosomal dominant inheritance","","","","","limited evidence (11/06/2023) | moderate evidence (11/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_65204ffc-d2bd-4334-bf9f-eaea618593dd-2023-11-06T180000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_358cb384-4303-425d-9b92-509c600c2d03-2023-11-06T180000.000Z","Hemostasis Thrombosis | Hemostasis Thrombosis","","",""
"THBD","HGNC:11784","https://search.clinicalgenome.org/kb/genes/HGNC:11784","atypical hemolytic-uremic syndrome","MONDO:0016244","https://search.clinicalgenome.org/kb/conditions/MONDO:0016244","Autosomal dominant inheritance","","","","","disputing (06/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_867df2fb-b300-4f48-8be0-e600bee48bdd-2024-06-28T160000.000Z","Complement-Mediated Kidney Diseases","","",""
"THG1L","HGNC:26053","https://search.clinicalgenome.org/kb/genes/HGNC:26053","spinocerebellar ataxia, autosomal recessive 28","MONDO:0032923","https://search.clinicalgenome.org/kb/conditions/MONDO:0032923","Autosomal recessive inheritance","","","","","limited evidence (09/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1568d1e-8fef-4666-80e1-7cee60e94863-2025-09-10T160000.000Z","Cerebellar Ataxia","","",""
"THOC6","HGNC:28369","https://search.clinicalgenome.org/kb/genes/HGNC:28369","THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome","MONDO:0013362","https://search.clinicalgenome.org/kb/conditions/MONDO:0013362","Autosomal recessive inheritance","","","","","definitive evidence (03/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db4039ce-b9e7-40ba-ac45-a622bb75b803-2024-03-15T160000.000Z","Syndromic Disorders","","",""
"THPO","HGNC:11795","https://search.clinicalgenome.org/kb/genes/HGNC:11795","thrombocythemia 1","MONDO:0008554","https://search.clinicalgenome.org/kb/conditions/MONDO:0008554","Autosomal dominant inheritance","","","","","definitive evidence (05/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e99d3899-efbe-4cb9-9170-748ea92892ce-2024-05-01T160000.000Z","Hemostasis Thrombosis","","",""
"THPO","HGNC:11795","https://search.clinicalgenome.org/kb/genes/HGNC:11795","congenital amegakaryocytic thrombocytopenia","MONDO:0800451","https://search.clinicalgenome.org/kb/conditions/MONDO:0800451","Semidominant inheritance","","","","","definitive evidence (05/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1cc3bbfe-9347-4514-916a-15b5db0129bb-2024-05-01T160000.000Z","Hemostasis Thrombosis","","",""
"TIA1","HGNC:11802","https://search.clinicalgenome.org/kb/genes/HGNC:11802","amyotrophic lateral sclerosis 26 with or without frontotemporal dementia","MONDO:0030885","https://search.clinicalgenome.org/kb/conditions/MONDO:0030885","Autosomal dominant inheritance","","","","","limited evidence (10/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_555a0c95-2fb8-44d2-b2bf-c02b16d3fa6f-2022-10-11T170000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"TIMM50","HGNC:23656","https://search.clinicalgenome.org/kb/genes/HGNC:23656","3-methylglutaconic aciduria type 9","MONDO:0044724","https://search.clinicalgenome.org/kb/conditions/MONDO:0044724","Autosomal recessive inheritance","","","","","definitive evidence (10/25/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92bd34f9-b744-4246-b50f-cfa8ab95597b-2021-10-25T202158.414Z","General Inborn Errors of Metabolism","","",""
"TIMM8A","HGNC:11817","https://search.clinicalgenome.org/kb/genes/HGNC:11817","deafness dystonia syndrome","MONDO:0010578","https://search.clinicalgenome.org/kb/conditions/MONDO:0010578","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/24/2021)","0 - No Evidence for Triplosensitivity (03/24/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11817","Dosage Working Group","definitive evidence (12/19/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a21d3842-b39e-4f98-860a-61a9aa4e2d2b-2017-12-19T050000.000Z","Hearing Loss","","",""
"TIMMDC1","HGNC:1321","https://search.clinicalgenome.org/kb/genes/HGNC:1321","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (06/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_83d26d62-2863-46d9-ad7d-96c086e65e8e-2021-06-30T220013.257Z","Mitochondrial Diseases","","",""
"TIMMDC1","HGNC:1321","https://search.clinicalgenome.org/kb/genes/HGNC:1321","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (02/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d27e1ad8-d7b4-466e-bd70-9363abd2f31c-2024-02-22T050000.000Z","Mitochondrial Diseases","","",""
"TIMP3","HGNC:11822","https://search.clinicalgenome.org/kb/genes/HGNC:11822","Sorsby fundus dystrophy","MONDO:0007640","https://search.clinicalgenome.org/kb/conditions/MONDO:0007640","Autosomal dominant inheritance","","","","","definitive evidence (07/02/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8594a02c-c0f3-4542-b6d3-f089ba94417e-2021-07-02T174320.328Z","Retina","","",""
"TINF2","HGNC:11824","https://search.clinicalgenome.org/kb/genes/HGNC:11824","dyskeratosis congenita, autosomal dominant 3","MONDO:0013522","https://search.clinicalgenome.org/kb/conditions/MONDO:0013522","Autosomal dominant inheritance","","","","","definitive evidence (02/20/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b32866f2-6fa1-4a63-9624-3588d0811ea7-2025-02-20T170000.000Z","Interstitial Lung Disease","","",""
"TJP1","HGNC:11827","https://search.clinicalgenome.org/kb/genes/HGNC:11827","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","","","","","limited evidence (02/08/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_435951df-5a0d-4596-b112-ccd6d6204409-2019-02-08T170000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"TJP2","HGNC:11828","https://search.clinicalgenome.org/kb/genes/HGNC:11828","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11828","Dosage Working Group","limited evidence (01/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb5c5be5-918d-4ba5-b4ad-e243119a7e6a-2022-01-19T170000.000Z","Hearing Loss","","",""
"TJP2","HGNC:11828","https://search.clinicalgenome.org/kb/genes/HGNC:11828","cholestasis, progressive familial intrahepatic, 4","MONDO:0014381","https://search.clinicalgenome.org/kb/conditions/MONDO:0014381","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11828","Dosage Working Group","","","","","",""
"TK2","HGNC:11831","https://search.clinicalgenome.org/kb/genes/HGNC:11831","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (09/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f1bc80d-2f35-4e45-ba17-a2ba34ee51de-2023-09-06T040000.000Z","Mitochondrial Diseases","","",""
"TLK2","HGNC:11842","https://search.clinicalgenome.org/kb/genes/HGNC:11842","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (06/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ecd1054d-80b0-4292-a901-65de788b7820-2024-06-05T100000.000Z","Intellectual Disability and Autism","","",""
"TLL1","HGNC:11843","https://search.clinicalgenome.org/kb/genes/HGNC:11843","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (05/13/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37ed8aea-d2e0-4bab-9e21-4f5ac823ce99-2024-05-13T160000.000Z","Congenital Heart Disease","","",""
"TLR5","HGNC:11851","https://search.clinicalgenome.org/kb/genes/HGNC:11851","systemic lupus erythematosus, susceptibility to, 1","MONDO:0011138","https://search.clinicalgenome.org/kb/conditions/MONDO:0011138","Mode of inheritance","","","","","limited evidence (02/12/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19220ed6-6724-43bc-9915-9de277183429-2025-02-12T200000.000Z","Monogenic Systemic and Incomplete Lupus Erythematosus","","",""
"TLR7","HGNC:15631","https://search.clinicalgenome.org/kb/genes/HGNC:15631","systemic lupus erythematosus 17","MONDO:0859083","https://search.clinicalgenome.org/kb/conditions/MONDO:0859083","X-linked inheritance","","","","","moderate evidence (10/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ad2864d-9d38-46ad-9bb0-5020b87cbe55-2024-10-11T190000.000Z","Monogenic Systemic and Incomplete Lupus Erythematosus","","",""
"TMC1","HGNC:16513","https://search.clinicalgenome.org/kb/genes/HGNC:16513","autosomal recessive nonsyndromic hearing loss 7","MONDO:0010967","https://search.clinicalgenome.org/kb/conditions/MONDO:0010967","Autosomal recessive inheritance","","","","","definitive evidence (02/15/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5658","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TMC1","HGNC:16513","https://search.clinicalgenome.org/kb/genes/HGNC:16513","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","definitive evidence (06/22/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_966d2fa1-5245-420d-9bf0-4a36aab29d74-2018-06-22T160000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TMC1","HGNC:16513","https://search.clinicalgenome.org/kb/genes/HGNC:16513","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TMC1","HGNC:16513","https://search.clinicalgenome.org/kb/genes/HGNC:16513","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TMC6","HGNC:18021","https://search.clinicalgenome.org/kb/genes/HGNC:18021","epidermodysplasia verruciformis","MONDO:0009176","https://search.clinicalgenome.org/kb/conditions/MONDO:0009176","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18021","Dosage Working Group","","","","","",""
"TMC8","HGNC:20474","https://search.clinicalgenome.org/kb/genes/HGNC:20474","epidermodysplasia verruciformis","MONDO:0009176","https://search.clinicalgenome.org/kb/conditions/MONDO:0009176","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20474","Dosage Working Group","","","","","",""
"TMCO1","HGNC:18188","https://search.clinicalgenome.org/kb/genes/HGNC:18188","craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome","MONDO:0031329","https://search.clinicalgenome.org/kb/conditions/MONDO:0031329","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18188","Dosage Working Group","","","","","",""
"TMEM126A","HGNC:25382","https://search.clinicalgenome.org/kb/genes/HGNC:25382","autosomal recessive optic atrophy, OPA7 type","MONDO:0013069","https://search.clinicalgenome.org/kb/conditions/MONDO:0013069","Autosomal recessive inheritance","","","","","definitive evidence (09/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc3b00f9-e385-48c5-8d6d-fcbee7a33717-2024-09-19T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"TMEM126A","HGNC:25382","https://search.clinicalgenome.org/kb/genes/HGNC:25382","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (08/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d388318-091b-4f1e-ba99-ef78619fa196-2024-08-22T040000.000Z","Mitochondrial Diseases","","",""
"TMEM126B","HGNC:30883","https://search.clinicalgenome.org/kb/genes/HGNC:30883","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (03/07/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f9df6705-7638-45c1-b3ec-db19fe0d39b9-2022-03-07T170000.000Z","Mitochondrial Diseases","","",""
"TMEM127","HGNC:26038","https://search.clinicalgenome.org/kb/genes/HGNC:26038","hereditary pheochromocytoma-paraganglioma","MONDO:0017366","https://search.clinicalgenome.org/kb/conditions/MONDO:0017366","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (07/13/2021)","0 - No Evidence for Triplosensitivity (07/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26038","Dosage Working Group","definitive evidence (06/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b965b4e-c909-41da-995b-cdc2af9b3183-2021-06-16T143347.758Z","Hereditary Cancer","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"TMEM127","HGNC:26038","https://search.clinicalgenome.org/kb/genes/HGNC:26038","pheochromocytoma","MONDO:0008233","https://search.clinicalgenome.org/kb/conditions/MONDO:0008233","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/13/2021)","0 - No Evidence for Triplosensitivity (07/13/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26038","Dosage Working Group","","","","Strong Actionability (10/31/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC150",""
"TMEM132E","HGNC:26991","https://search.clinicalgenome.org/kb/genes/HGNC:26991","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","Autosomal recessive inheritance","","","","","limited evidence (01/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_867fc085-f2f4-40f6-8b96-565d131fd964-2022-01-26T163240.414Z","Hearing Loss","","",""
"TMEM138","HGNC:26944","https://search.clinicalgenome.org/kb/genes/HGNC:26944","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","moderate evidence (04/26/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c7ebf874-24b0-4566-bc51-8e4dad4b0fb9-2023-04-26T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"TMEM216","HGNC:25018","https://search.clinicalgenome.org/kb/genes/HGNC:25018","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/30/2025)","0 - No Evidence for Triplosensitivity (06/30/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25018","Dosage Working Group","definitive evidence (09/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_69639963-17ee-4cbb-a7e5-33c48bca114b-2024-09-09T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"TMEM231","HGNC:37234","https://search.clinicalgenome.org/kb/genes/HGNC:37234","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:37234","Dosage Working Group","definitive evidence (01/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_52100cfc-22b6-47c5-9b9c-512a1a4f1cfc-2022-01-12T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"TMEM231","HGNC:37234","https://search.clinicalgenome.org/kb/genes/HGNC:37234","Joubert syndrome and related disorders","MONDO:0015369","https://search.clinicalgenome.org/kb/conditions/MONDO:0015369","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:37234","Dosage Working Group","","","","","",""
"TMEM237","HGNC:14432","https://search.clinicalgenome.org/kb/genes/HGNC:14432","Joubert syndrome 14","MONDO:0013745","https://search.clinicalgenome.org/kb/conditions/MONDO:0013745","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/09/2015)","0 - No Evidence for Triplosensitivity (04/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14432","Dosage Working Group","definitive evidence (04/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6b843c9-8fc3-4d61-8195-29aed5e7d700-2021-04-26T121051.373Z","Syndromic Disorders","","",""
"TMEM43","HGNC:28472","https://search.clinicalgenome.org/kb/genes/HGNC:28472","arrhythmogenic right ventricular dysplasia 5","MONDO:0011459","https://search.clinicalgenome.org/kb/conditions/MONDO:0011459","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/08/2015)","0 - No Evidence for Triplosensitivity (11/08/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28472","Dosage Working Group","definitive evidence (10/26/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_675dc788-9749-413f-93ce-8c1fc3adbe84-2018-10-26T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"TMEM43","HGNC:28472","https://search.clinicalgenome.org/kb/genes/HGNC:28472","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","N/A","0 - No Evidence for Haploinsufficiency (11/08/2015)","0 - No Evidence for Triplosensitivity (11/08/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28472","Dosage Working Group","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"TMEM43","HGNC:28472","https://search.clinicalgenome.org/kb/genes/HGNC:28472","familial isolated arrhythmogenic right ventricular dysplasia","MONDO:0016342","https://search.clinicalgenome.org/kb/conditions/MONDO:0016342","N/A","0 - No Evidence for Haploinsufficiency (11/08/2015)","0 - No Evidence for Triplosensitivity (11/08/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28472","Dosage Working Group","","","","Moderate Actionability (03/17/2020) | Strong Actionability (03/17/2020)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC039 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC039"," | "
"TMEM65","HGNC:25203","https://search.clinicalgenome.org/kb/genes/HGNC:25203","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","limited evidence (07/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5baa00c9-4701-487f-8855-392e48d3de9c-2024-07-15T040000.000Z","Mitochondrial Diseases","","",""
"TMEM67","HGNC:28396","https://search.clinicalgenome.org/kb/genes/HGNC:28396","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28396","Dosage Working Group","definitive evidence (07/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f380d4b-6d0b-4c09-a3ae-ec34bc8ecb8d-2021-07-14T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"TMEM67","HGNC:28396","https://search.clinicalgenome.org/kb/genes/HGNC:28396","Joubert syndrome and related disorders","MONDO:0015369","https://search.clinicalgenome.org/kb/conditions/MONDO:0015369","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28396","Dosage Working Group","","","","","",""
"TMEM70","HGNC:26050","https://search.clinicalgenome.org/kb/genes/HGNC:26050","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (06/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5be60130-254d-4af4-aca0-eb8cd88a143c-2022-06-16T160000.000Z","Mitochondrial Diseases","","",""
"TMEM94","HGNC:28983","https://search.clinicalgenome.org/kb/genes/HGNC:28983","intellectual developmental disorder with cardiac defects and dysmorphic facies","MONDO:0032672","https://search.clinicalgenome.org/kb/conditions/MONDO:0032672","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/01/2025)","0 - No Evidence for Triplosensitivity (04/01/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28983","Dosage Working Group","definitive evidence (06/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9053be11-f8c6-4c9a-8efa-487e07abf52e-2024-06-05T160000.000Z","Syndromic Disorders","","",""
"TMEM98","HGNC:24529","https://search.clinicalgenome.org/kb/genes/HGNC:24529","nanophthalmos 4","MONDO:0014426","https://search.clinicalgenome.org/kb/conditions/MONDO:0014426","Autosomal dominant inheritance","","","","","limited evidence (04/22/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_299e24cd-9096-41ad-8931-94e9a1c8d4ff-2025-04-22T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"TMIE","HGNC:30800","https://search.clinicalgenome.org/kb/genes/HGNC:30800","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","","","","","definitive evidence (09/29/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b025a472-0a48-469c-a5f3-70df12ade334-2017-09-29T040000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TMIE","HGNC:30800","https://search.clinicalgenome.org/kb/genes/HGNC:30800","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TMIE","HGNC:30800","https://search.clinicalgenome.org/kb/genes/HGNC:30800","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TMIE","HGNC:30800","https://search.clinicalgenome.org/kb/genes/HGNC:30800","autosomal recessive nonsyndromic hearing loss 6","MONDO:0010965","https://search.clinicalgenome.org/kb/conditions/MONDO:0010965","N/A","","","","","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TMLHE","HGNC:18308","https://search.clinicalgenome.org/kb/genes/HGNC:18308","autism spectrum disorder","MONDO:0005258","https://search.clinicalgenome.org/kb/conditions/MONDO:0005258","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (08/01/2013)","0 - No Evidence for Triplosensitivity (08/01/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18308","Dosage Working Group","disputing (03/02/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7a780ea6-ad4e-417a-a596-27188e327aad-2021-03-02T050000.000Z","Intellectual Disability and Autism","","",""
"TMOD1","HGNC:11871","https://search.clinicalgenome.org/kb/genes/HGNC:11871","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal recessive inheritance","","","","","limited evidence (05/02/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbcee227-6a90-474b-ba94-7714bcf704d5-2025-05-02T160000.000Z","Dilated Cardiomyopathy","","",""
"TMPO","HGNC:11875","https://search.clinicalgenome.org/kb/genes/HGNC:11875","obsolete familial isolated dilated cardiomyopathy","MONDO:0015470","https://search.clinicalgenome.org/kb/conditions/MONDO:0015470","Autosomal dominant inheritance","","","","","refuting evidence (11/30/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3211","General Gene Curation","","",""
"TMPO","HGNC:11875","https://search.clinicalgenome.org/kb/genes/HGNC:11875","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","limited evidence (04/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1e1bb21-c617-4aac-b9d8-1c2054d76c55-2023-04-27T160000.000Z","Hereditary Cardiovascular Disease","","",""
"TMPRSS3","HGNC:11877","https://search.clinicalgenome.org/kb/genes/HGNC:11877","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11877","Dosage Working Group","definitive evidence (08/22/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ee13ba8c-7986-4e6c-8a39-4ee197ba4023-2017-08-22T160000.000Z","Hearing Loss","","",""
"TMPRSS3","HGNC:11877","https://search.clinicalgenome.org/kb/genes/HGNC:11877","autosomal recessive nonsyndromic hearing loss 8","MONDO:0010987","https://search.clinicalgenome.org/kb/conditions/MONDO:0010987","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11877","Dosage Working Group","","","","","",""
"TMPRSS6","HGNC:16517","https://search.clinicalgenome.org/kb/genes/HGNC:16517","IRIDA syndrome","MONDO:0008788","https://search.clinicalgenome.org/kb/conditions/MONDO:0008788","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16517","Dosage Working Group","definitive evidence (08/27/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_566f2e6c-d7dc-4ad2-a44d-b7c46b51d98a-2025-08-27T170000.000Z","General Inborn Errors of Metabolism","","",""
"TMTC2","HGNC:25440","https://search.clinicalgenome.org/kb/genes/HGNC:25440","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","disputing (04/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0e56b4d6-4947-4de5-a3a7-373145019239-2022-04-26T160000.000Z","Hearing Loss","","",""
"TNC","HGNC:5318","https://search.clinicalgenome.org/kb/genes/HGNC:5318","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","limited evidence (07/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fce4988a-fb20-4f95-b73a-799c47b67e3b-2022-07-13T160000.000Z","Hearing Loss","","",""
"TNFRSF11B","HGNC:11909","https://search.clinicalgenome.org/kb/genes/HGNC:11909","juvenile Paget disease","MONDO:0009394","https://search.clinicalgenome.org/kb/conditions/MONDO:0009394","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11909","Dosage Working Group","","","","","",""
"TNFRSF13B","HGNC:18153","https://search.clinicalgenome.org/kb/genes/HGNC:18153","immunodeficiency, common variable, 2","MONDO:0009413","https://search.clinicalgenome.org/kb/conditions/MONDO:0009413","Autosomal recessive inheritance","","","","","definitive evidence (01/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3049236b-8132-4dfa-8cda-2a328962a0a4-2021-01-20T170000.000Z","Antibody Deficiencies GCEP","","",""
"TNFRSF13C","HGNC:17755","https://search.clinicalgenome.org/kb/genes/HGNC:17755","immunodeficiency, common variable, 4","MONDO:0013284","https://search.clinicalgenome.org/kb/conditions/MONDO:0013284","Autosomal recessive inheritance","","","","","limited evidence (04/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1408411b-9d28-4308-b2bc-dbada3660898-2021-04-13T003359.028Z","Antibody Deficiencies GCEP","","",""
"TNFRSF1A","HGNC:11916","https://search.clinicalgenome.org/kb/genes/HGNC:11916","TNF receptor 1-associated periodic fever syndrome","MONDO:0007727","https://search.clinicalgenome.org/kb/conditions/MONDO:0007727","Autosomal dominant inheritance","","","","","definitive evidence (04/21/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_66b44bc7-c07a-416b-99c0-9806133b9b42-2025-04-21T160000.000Z","Monogenic Autoinflammatory Disease","","",""
"TNFRSF4","HGNC:11918","https://search.clinicalgenome.org/kb/genes/HGNC:11918","combined immunodeficiency due to OX40 deficiency","MONDO:0014268","https://search.clinicalgenome.org/kb/conditions/MONDO:0014268","Autosomal recessive inheritance","","","","","limited evidence (06/15/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4759ec3f-6876-41c4-a6eb-fdceedccbc60-2023-06-15T170000.000Z","SCID-CID","","",""
"TNFRSF9","HGNC:11924","https://search.clinicalgenome.org/kb/genes/HGNC:11924","immunodeficiency 109 with lymphoproliferation","MONDO:0859526","https://search.clinicalgenome.org/kb/conditions/MONDO:0859526","Autosomal recessive inheritance","","","","","definitive evidence (04/15/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5baa1f6-63ef-46a7-8723-1c79844e0320-2025-04-15T190000.000Z","Primary Immune Regulatory Disorders","","",""
"TNFSF11","HGNC:11926","https://search.clinicalgenome.org/kb/genes/HGNC:11926","autosomal recessive osteopetrosis 2","MONDO:0009816","https://search.clinicalgenome.org/kb/conditions/MONDO:0009816","Autosomal recessive inheritance","","","","","definitive evidence (12/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_90e426a0-23df-43d0-951c-ab6d7eb41158-2024-12-02T170000.000Z","Skeletal Disorders","","",""
"TNFSF12","HGNC:11927","https://search.clinicalgenome.org/kb/genes/HGNC:11927","common variable immunodeficiency","MONDO:0015517","https://search.clinicalgenome.org/kb/conditions/MONDO:0015517","Autosomal dominant inheritance","","","","","limited evidence (07/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b943345a-024d-401d-a147-470c0ea0381c-2022-07-22T160000.000Z","Antibody Deficiencies GCEP","","",""
"TNFSF13","HGNC:11928","https://search.clinicalgenome.org/kb/genes/HGNC:11928","common variable immunodeficiency","MONDO:0015517","https://search.clinicalgenome.org/kb/conditions/MONDO:0015517","Autosomal recessive inheritance","","","","","limited evidence (09/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c181d44b-5c48-441b-95ad-b4d06572596d-2022-09-20T160000.000Z","Antibody Deficiencies GCEP","","",""
"TNNC1","HGNC:11943","https://search.clinicalgenome.org/kb/genes/HGNC:11943","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/10/2025)","0 - No Evidence for Triplosensitivity (10/10/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11943","Dosage Working Group","no known disease relationship (09/13/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bea34b8c-4260-4dce-bcb3-69be7eb1aa21-2019-09-13T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"TNNC1","HGNC:11943","https://search.clinicalgenome.org/kb/genes/HGNC:11943","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/10/2025)","0 - No Evidence for Triplosensitivity (10/10/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11943","Dosage Working Group","definitive evidence (09/13/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d832673-8acb-4a02-ae34-35e0d9981b70-2023-09-13T160000.000Z","Hereditary Cardiovascular Disease","","",""
"TNNC1","HGNC:11943","https://search.clinicalgenome.org/kb/genes/HGNC:11943","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/10/2025)","0 - No Evidence for Triplosensitivity (10/10/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11943","Dosage Working Group","definitive evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ad71467-74c0-4a7c-932d-c5ca5747e59e-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"TNNC2","HGNC:11944","https://search.clinicalgenome.org/kb/genes/HGNC:11944","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","no known disease relationship (04/12/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1048e478-9177-4086-8bcc-7a2ef8f46894-2023-04-12T160000.000Z","Hereditary Cardiovascular Disease","","",""
"TNNI3","HGNC:11947","https://search.clinicalgenome.org/kb/genes/HGNC:11947","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (05/25/2023)","0 - No Evidence for Triplosensitivity (05/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11947","Dosage Working Group","no known disease relationship (07/16/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_21c990ca-e407-4a21-a3e2-237700a75d43-2019-07-16T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"TNNI3","HGNC:11947","https://search.clinicalgenome.org/kb/genes/HGNC:11947","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance | Autosomal recessive inheritance","1 - Little Evidence for Haploinsufficiency (05/25/2023)","0 - No Evidence for Triplosensitivity (05/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11947","Dosage Working Group","strong evidence (04/18/2025) | strong evidence (04/18/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_668087ea-0d2f-42c2-a291-f73400d34023-2025-04-18T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b89182f6-1574-48c6-832f-add41ffbaa4c-2025-04-18T160000.000Z","Dilated Cardiomyopathy | Dilated Cardiomyopathy","","",""
"TNNI3","HGNC:11947","https://search.clinicalgenome.org/kb/genes/HGNC:11947","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (05/25/2023)","0 - No Evidence for Triplosensitivity (05/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11947","Dosage Working Group","definitive evidence (09/05/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a7e6901-d478-44c4-bd03-2c344029d4bb-2017-09-05T160000.000Z","Hypertrophic Cardiomyopathy","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"TNNI3","HGNC:11947","https://search.clinicalgenome.org/kb/genes/HGNC:11947","hypertrophic cardiomyopathy 7","MONDO:0013369","https://search.clinicalgenome.org/kb/conditions/MONDO:0013369","N/A","1 - Little Evidence for Haploinsufficiency (05/25/2023)","0 - No Evidence for Triplosensitivity (05/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11947","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"TNNI3","HGNC:11947","https://search.clinicalgenome.org/kb/genes/HGNC:11947","familial hypertrophic cardiomyopathy","MONDO:0024573","https://search.clinicalgenome.org/kb/conditions/MONDO:0024573","N/A","1 - Little Evidence for Haploinsufficiency (05/25/2023)","0 - No Evidence for Triplosensitivity (05/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11947","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"TNNI3K","HGNC:19661","https://search.clinicalgenome.org/kb/genes/HGNC:19661","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","moderate evidence (09/05/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5ce5790-8940-4d7a-a85c-8682be86939d-2025-09-05T160000.000Z","Dilated Cardiomyopathy","","",""
"TNNT1","HGNC:11948","https://search.clinicalgenome.org/kb/genes/HGNC:11948","nemaline myopathy 5","MONDO:0011539","https://search.clinicalgenome.org/kb/conditions/MONDO:0011539","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11948","Dosage Working Group","definitive evidence (05/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8f993d88-c2f6-42c8-8c2e-c1bb63e1416a-2020-05-07T160000.000Z","Congenital Myopathies","","",""
"TNNT1","HGNC:11948","https://search.clinicalgenome.org/kb/genes/HGNC:11948","nemaline myopathy","MONDO:0018958","https://search.clinicalgenome.org/kb/conditions/MONDO:0018958","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11948","Dosage Working Group","limited evidence (03/24/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5e1f9d1-b21e-46f6-94ce-10cb551ea92a-2025-03-24T160000.000Z","Congenital Myopathies","","",""
"TNNT2","HGNC:11949","https://search.clinicalgenome.org/kb/genes/HGNC:11949","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11949","Dosage Working Group","no known disease relationship (07/16/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2bde3ff-f75f-40c3-a8fe-10a72e883b3c-2019-07-16T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"TNNT2","HGNC:11949","https://search.clinicalgenome.org/kb/genes/HGNC:11949","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11949","Dosage Working Group","definitive evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_20fbdfad-b2d2-45f1-9658-e2e3e02cb413-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"TNNT2","HGNC:11949","https://search.clinicalgenome.org/kb/genes/HGNC:11949","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11949","Dosage Working Group","moderate evidence (02/04/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ef922dc4-4e41-422b-ac3d-605fea375005-2021-02-04T050000.000Z","Hereditary Cardiovascular Disease","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"TNNT2","HGNC:11949","https://search.clinicalgenome.org/kb/genes/HGNC:11949","hypertrophic cardiomyopathy 2","MONDO:0007266","https://search.clinicalgenome.org/kb/conditions/MONDO:0007266","N/A","0 - No Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11949","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"TNNT2","HGNC:11949","https://search.clinicalgenome.org/kb/genes/HGNC:11949","familial hypertrophic cardiomyopathy","MONDO:0024573","https://search.clinicalgenome.org/kb/conditions/MONDO:0024573","N/A","0 - No Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11949","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"TNNT2","HGNC:11949","https://search.clinicalgenome.org/kb/genes/HGNC:11949","dilated cardiomyopathy 1D","MONDO:0011095","https://search.clinicalgenome.org/kb/conditions/MONDO:0011095","N/A","0 - No Evidence for Haploinsufficiency (11/16/2015)","0 - No Evidence for Triplosensitivity (11/16/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11949","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC138",""
"TNNT3","HGNC:11950","https://search.clinicalgenome.org/kb/genes/HGNC:11950","nemaline myopathy","MONDO:0018958","https://search.clinicalgenome.org/kb/conditions/MONDO:0018958","Autosomal recessive inheritance","","","","","limited evidence (02/24/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9617fa6c-fcb4-460a-be4b-2e437267f608-2025-02-24T170000.000Z","Congenital Myopathies","","",""
"TNPO3","HGNC:17103","https://search.clinicalgenome.org/kb/genes/HGNC:17103","muscular dystrophy, limb-girdle, autosomal dominant","MONDO:0015151","https://search.clinicalgenome.org/kb/conditions/MONDO:0015151","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (06/30/2025)","0 - No Evidence for Triplosensitivity (06/30/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17103","Dosage Working Group","definitive evidence (03/11/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9cd2cbd3-46da-490c-9765-40b52750dded-2025-03-11T160000.000Z","Muscular Dystrophies and Myopathies","","",""
"TNR","HGNC:11953","https://search.clinicalgenome.org/kb/genes/HGNC:11953","neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus","MONDO:0859212","https://search.clinicalgenome.org/kb/conditions/MONDO:0859212","Autosomal recessive inheritance","","","","","definitive evidence (01/02/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fe529d03-c7e4-4638-8ce5-de4400a34fb0-2025-01-02T170000.000Z","Cerebral Palsy","","",""
"TNRC6B","HGNC:29190","https://search.clinicalgenome.org/kb/genes/HGNC:29190","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/26/2019)","0 - No Evidence for Triplosensitivity (06/26/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29190","Dosage Working Group","definitive evidence (01/06/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a806c490-788f-49b6-b437-6970f5888c07-2021-01-06T170000.000Z","Intellectual Disability and Autism","","",""
"TOP2B","HGNC:11990","https://search.clinicalgenome.org/kb/genes/HGNC:11990","B-cell immunodeficiency, distal limb anomalies, and urogenital malformations","MONDO:0012243","https://search.clinicalgenome.org/kb/conditions/MONDO:0012243","Autosomal dominant inheritance","","","","","moderate evidence (10/19/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_677a64c1-b005-44f6-9846-a7f371222667-2021-10-19T125736.122Z","Antibody Deficiencies GCEP","","",""
"TOPBP1","HGNC:17008","https://search.clinicalgenome.org/kb/genes/HGNC:17008","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","","","","","no known disease relationship (11/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8dfd5fc5-a4cb-4beb-8486-eae7675d08af-2022-11-22T170000.000Z","Pulmonary Hypertension","","",""
"TOPORS","HGNC:21653","https://search.clinicalgenome.org/kb/genes/HGNC:21653","TOPORS-related retinopathy","MONDO:0700233","https://search.clinicalgenome.org/kb/conditions/MONDO:0700233","Autosomal dominant inheritance","","","","","definitive evidence (04/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d71be46-7f7d-4567-b47d-d67015c3fa74-2023-04-06T160000.000Z","Retina","","",""
"TOR1AIP1","HGNC:29456","https://search.clinicalgenome.org/kb/genes/HGNC:29456","TOR1AIP1-related myopathy","MONDO:0100582","https://search.clinicalgenome.org/kb/conditions/MONDO:0100582","Autosomal recessive inheritance","","","","","definitive evidence (11/12/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d671760-7ca7-4319-846b-a953ddcea700-2024-11-12T170000.000Z","Muscular Dystrophies and Myopathies","","",""
"TOR1AIP1","HGNC:29456","https://search.clinicalgenome.org/kb/genes/HGNC:29456","TOR1AIP1-related multisystem disorder","MONDO:0100591","https://search.clinicalgenome.org/kb/conditions/MONDO:0100591","Autosomal recessive inheritance","","","","","definitive evidence (04/02/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3bf2ae25-0135-4f34-9623-87cfd4890827-2025-04-02T160000.000Z","Muscular Dystrophies and Myopathies","","",""
"TP53","HGNC:11998","https://search.clinicalgenome.org/kb/genes/HGNC:11998","Li-Fraumeni syndrome","MONDO:0018875","https://search.clinicalgenome.org/kb/conditions/MONDO:0018875","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/10/2021)","0 - No Evidence for Triplosensitivity (11/10/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11998","Dosage Working Group","definitive evidence (03/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_78494aba-bb52-4b33-bf1d-ebbb5374df4b-2024-03-22T170000.000Z","Hereditary Cancer","Strong Actionability (03/26/2021) | Strong Actionability (03/26/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC068 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC068"," | "
"TP53BP2","HGNC:12000","https://search.clinicalgenome.org/kb/genes/HGNC:12000","open-angle glaucoma","MONDO:0005338","https://search.clinicalgenome.org/kb/conditions/MONDO:0005338","Autosomal dominant inheritance","","","","","disputing (05/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_05ac2b0b-5f6d-4227-ad08-0bb6c852583f-2023-05-18T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"TP63","HGNC:15979","https://search.clinicalgenome.org/kb/genes/HGNC:15979","ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3","MONDO:0011428","https://search.clinicalgenome.org/kb/conditions/MONDO:0011428","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15979","Dosage Working Group","definitive evidence (10/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b929e5b-2ce9-44b5-8c30-7290c2d8e490-2024-10-17T160000.000Z","Craniofacial Malformations","","",""
"TP63","HGNC:15979","https://search.clinicalgenome.org/kb/genes/HGNC:15979","cleft lip/palate","MONDO:0016044","https://search.clinicalgenome.org/kb/conditions/MONDO:0016044","N/A","1 - Little Evidence for Haploinsufficiency (05/10/2023)","0 - No Evidence for Triplosensitivity (05/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15979","Dosage Working Group","","","","","",""
"TP73","HGNC:12003","https://search.clinicalgenome.org/kb/genes/HGNC:12003","ciliary dyskinesia, primary, 47, and lissencephaly","MONDO:0030346","https://search.clinicalgenome.org/kb/conditions/MONDO:0030346","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (07/06/2012)","0 - No Evidence for Triplosensitivity (07/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12003","Dosage Working Group","strong evidence (09/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96b17463-2bd0-431c-a8df-0c1ac28a97ab-2023-09-14T160000.000Z","Motile Ciliopathy GCEP","","",""
"TPK1","HGNC:17358","https://search.clinicalgenome.org/kb/genes/HGNC:17358","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17358","Dosage Working Group","moderate evidence (01/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_74e89426-cb27-4474-b892-dc303a9de644-2021-01-14T212800.773Z","Mitochondrial Diseases","","",""
"TPK1","HGNC:17358","https://search.clinicalgenome.org/kb/genes/HGNC:17358","childhood encephalopathy due to thiamine pyrophosphokinase deficiency","MONDO:0013761","https://search.clinicalgenome.org/kb/conditions/MONDO:0013761","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17358","Dosage Working Group","","","","","",""
"TPM1","HGNC:12010","https://search.clinicalgenome.org/kb/genes/HGNC:12010","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/09/2015)","0 - No Evidence for Triplosensitivity (11/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12010","Dosage Working Group","no known disease relationship (09/13/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8e69d885-a5c6-48de-bb65-0943a6c2268d-2019-09-13T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","",""
"TPM1","HGNC:12010","https://search.clinicalgenome.org/kb/genes/HGNC:12010","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/09/2015)","0 - No Evidence for Triplosensitivity (11/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12010","Dosage Working Group","moderate evidence (04/04/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1173d239-23cf-4c9c-9ea5-f95d9356e6c7-2025-04-04T160000.000Z","Dilated Cardiomyopathy","","",""
"TPM1","HGNC:12010","https://search.clinicalgenome.org/kb/genes/HGNC:12010","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/09/2015)","0 - No Evidence for Triplosensitivity (11/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12010","Dosage Working Group","definitive evidence (12/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_32e7ed58-ee49-4719-b48e-7fad58012319-2023-12-18T170000.000Z","Hereditary Cardiovascular Disease","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"TPM1","HGNC:12010","https://search.clinicalgenome.org/kb/genes/HGNC:12010","hypertrophic cardiomyopathy 3","MONDO:0007267","https://search.clinicalgenome.org/kb/conditions/MONDO:0007267","N/A","0 - No Evidence for Haploinsufficiency (11/09/2015)","0 - No Evidence for Triplosensitivity (11/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12010","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"TPM1","HGNC:12010","https://search.clinicalgenome.org/kb/genes/HGNC:12010","familial hypertrophic cardiomyopathy","MONDO:0024573","https://search.clinicalgenome.org/kb/conditions/MONDO:0024573","N/A","0 - No Evidence for Haploinsufficiency (11/09/2015)","0 - No Evidence for Triplosensitivity (11/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12010","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056",""
"TPM2","HGNC:12011","https://search.clinicalgenome.org/kb/genes/HGNC:12011","TPM2-related myopathy","MONDO:0100196","https://search.clinicalgenome.org/kb/conditions/MONDO:0100196","Autosomal dominant inheritance","","","","","definitive evidence (01/04/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f137b6cf-247a-4af0-b41f-6cb976239175-2021-01-04T170000.000Z","Congenital Myopathies","","",""
"TPM3","HGNC:12012","https://search.clinicalgenome.org/kb/genes/HGNC:12012","TPM3-related myopathy","MONDO:0100108","https://search.clinicalgenome.org/kb/conditions/MONDO:0100108","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","definitive evidence (04/08/2024) | definitive evidence (04/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0c190069-e5ad-4562-b69a-66acde0a2179-2024-04-08T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4638d255-c615-4d17-acf0-2943bc022f56-2024-04-08T160000.000Z","Congenital Myopathies | Congenital Myopathies","","",""
"TPM4","HGNC:12013","https://search.clinicalgenome.org/kb/genes/HGNC:12013","TPM4-related platelet disorder","MONDO:0100487","https://search.clinicalgenome.org/kb/conditions/MONDO:0100487","Autosomal dominant inheritance","","","","","moderate evidence (05/01/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b8bb90f-f190-4e20-8f65-27d236cb7d79-2024-05-01T160000.000Z","Hemostasis Thrombosis","","",""
"TPO","HGNC:12015","https://search.clinicalgenome.org/kb/genes/HGNC:12015","thyroid dyshormonogenesis 2A","MONDO:0010133","https://search.clinicalgenome.org/kb/conditions/MONDO:0010133","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12015","Dosage Working Group","","","","","",""
"TPP1","HGNC:2073","https://search.clinicalgenome.org/kb/genes/HGNC:2073","neuronal ceroid lipofuscinosis","MONDO:0016295","https://search.clinicalgenome.org/kb/conditions/MONDO:0016295","Autosomal recessive inheritance","","","","","definitive evidence (09/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b2f3b20-fb9a-4b5e-ad8e-e03be5ebb8e5-2020-09-26T005342.102Z","Epilepsy","","",""
"TPRN","HGNC:26894","https://search.clinicalgenome.org/kb/genes/HGNC:26894","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26894","Dosage Working Group","definitive evidence (09/12/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a4dce399-9aeb-452e-a917-3603eb09d11f-2017-09-12T040000.000Z","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TPRN","HGNC:26894","https://search.clinicalgenome.org/kb/genes/HGNC:26894","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26894","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TPRN","HGNC:26894","https://search.clinicalgenome.org/kb/genes/HGNC:26894","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26894","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TPRN","HGNC:26894","https://search.clinicalgenome.org/kb/genes/HGNC:26894","autosomal recessive nonsyndromic hearing loss 79","MONDO:0013215","https://search.clinicalgenome.org/kb/conditions/MONDO:0013215","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26894","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TPSAB1","HGNC:12019","https://search.clinicalgenome.org/kb/genes/HGNC:12019","hereditary alpha tryptasemia syndrome","MONDO:0850201","https://search.clinicalgenome.org/kb/conditions/MONDO:0850201","N/A","0 - No Evidence for Haploinsufficiency (08/07/2025)","3 - Sufficient Evidence for Triplosensitivity (08/07/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12019","Dosage Working Group","","","","","",""
"TRAC","HGNC:12029","https://search.clinicalgenome.org/kb/genes/HGNC:12029","TCR-alpha-beta-positive T-cell deficiency","MONDO:0014160","https://search.clinicalgenome.org/kb/conditions/MONDO:0014160","Autosomal recessive inheritance","","","","","moderate evidence (07/17/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a49ea507-7acb-4bed-be28-140120adf9fe-2025-07-17T160000.000Z","SCID-CID","","",""
"TRAF3","HGNC:12033","https://search.clinicalgenome.org/kb/genes/HGNC:12033","TRAF3 haploinsufficiency","MONDO:0100513","https://search.clinicalgenome.org/kb/conditions/MONDO:0100513","Autosomal dominant inheritance","","","","","moderate evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cd75b152-5853-4a4e-b1c4-04d1d0c27a38-2023-05-30T160000.000Z","Antibody Deficiencies GCEP","","",""
"TRAF3IP1","HGNC:17861","https://search.clinicalgenome.org/kb/genes/HGNC:17861","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","definitive evidence (01/29/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e5e570ae-a273-44fc-81a4-28464f3f399f-2024-01-29T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"TRAF7","HGNC:20456","https://search.clinicalgenome.org/kb/genes/HGNC:20456","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (10/10/2025)","0 - No Evidence for Triplosensitivity (10/10/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20456","Dosage Working Group","definitive evidence (09/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6291da3-f236-4abe-ba39-ed00366e894a-2023-09-06T190000.000Z","Intellectual Disability and Autism","","",""
"TRAF7","HGNC:20456","https://search.clinicalgenome.org/kb/genes/HGNC:20456","","https://monarchinitiative.org/MONDO:0035661","https://search.clinicalgenome.org/kb/conditions/https://monarchinitiative.org/MONDO:0035661","N/A","0 - No Evidence for Haploinsufficiency (10/10/2025)","0 - No Evidence for Triplosensitivity (10/10/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20456","Dosage Working Group","","","","","",""
"TRAPPC11","HGNC:25751","https://search.clinicalgenome.org/kb/genes/HGNC:25751","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","","","","","definitive evidence (08/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8b835ba1-afbd-48ac-afec-b9396acc5521-2024-08-14T190000.000Z","Muscular Dystrophies and Myopathies","","",""
"TRAPPC2","HGNC:23068","https://search.clinicalgenome.org/kb/genes/HGNC:23068","spondyloepiphyseal dysplasia tarda, X-linked","MONDO:0010737","https://search.clinicalgenome.org/kb/conditions/MONDO:0010737","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/16/2014)","0 - No Evidence for Triplosensitivity (01/16/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23068","Dosage Working Group","","","","","",""
"TRAPPC4","HGNC:19943","https://search.clinicalgenome.org/kb/genes/HGNC:19943","neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy","MONDO:0032894","https://search.clinicalgenome.org/kb/conditions/MONDO:0032894","Autosomal recessive inheritance","","","","","definitive evidence (01/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_51f66c13-6d48-48c0-b8d7-2ba58dd7a09d-2024-01-08T170000.000Z","Syndromic Disorders","","",""
"TRAPPC6B","HGNC:23066","https://search.clinicalgenome.org/kb/genes/HGNC:23066","neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy","MONDO:0060640","https://search.clinicalgenome.org/kb/conditions/MONDO:0060640","Autosomal recessive inheritance","","","","","definitive evidence (11/19/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b98a9fbd-43ee-460c-8e22-0f2d31309b82-2024-11-19T170000.000Z","Syndromic Disorders","","",""
"TRAPPC9","HGNC:30832","https://search.clinicalgenome.org/kb/genes/HGNC:30832","intellectual disability-obesity-brain malformations-facial dysmorphism syndrome","MONDO:0018123","https://search.clinicalgenome.org/kb/conditions/MONDO:0018123","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/06/2015)","0 - No Evidence for Triplosensitivity (08/06/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30832","Dosage Working Group","definitive evidence (08/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_456bfabf-5cad-4a08-bf21-3611a6fbf9b1-2020-08-15T160000.000Z","Intellectual Disability and Autism","","",""
"TRAPPC9","HGNC:30832","https://search.clinicalgenome.org/kb/genes/HGNC:30832","intellectual disability, autosomal recessive 13","MONDO:0013173","https://search.clinicalgenome.org/kb/conditions/MONDO:0013173","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/06/2015)","0 - No Evidence for Triplosensitivity (08/06/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30832","Dosage Working Group","","","","","",""
"TRDN","HGNC:12261","https://search.clinicalgenome.org/kb/genes/HGNC:12261","long QT syndrome","MONDO:0002442","https://search.clinicalgenome.org/kb/conditions/MONDO:0002442","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12261","Dosage Working Group","strong evidence (04/24/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1278bd6a-6ac7-4556-87ea-f860027b2da5-2020-04-24T040000.000Z","Long QT Syndrome","","",""
"TRDN","HGNC:12261","https://search.clinicalgenome.org/kb/genes/HGNC:12261","catecholaminergic polymorphic ventricular tachycardia","MONDO:0017990","https://search.clinicalgenome.org/kb/conditions/MONDO:0017990","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12261","Dosage Working Group","definitive evidence (01/20/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a86167e8-9010-488d-b5bb-1f29e805bd91-2021-01-20T170000.000Z","Catecholaminergic Polymorphic Ventricular Tachycardia","Strong Actionability (03/11/2021) | Strong Actionability (03/11/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC042"," | "
"TRDN","HGNC:12261","https://search.clinicalgenome.org/kb/genes/HGNC:12261","catecholaminergic polymorphic ventricular tachycardia 5","MONDO:0014191","https://search.clinicalgenome.org/kb/conditions/MONDO:0014191","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12261","Dosage Working Group","","","","Strong Actionability (03/11/2021) | Strong Actionability (03/11/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC042 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC042"," | "
"TREX1","HGNC:12269","https://search.clinicalgenome.org/kb/genes/HGNC:12269","TREX1-related type 1 interferonopathy","MONDO:0700256","https://search.clinicalgenome.org/kb/conditions/MONDO:0700256","Autosomal recessive inheritance","","","","","definitive evidence (06/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_568116cb-0de8-4917-9601-add0fc2a0f5b-2024-06-03T160000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"TRHR","HGNC:12299","https://search.clinicalgenome.org/kb/genes/HGNC:12299","hypothyroidism, congenital, nongoitrous, 7","MONDO:0032819","https://search.clinicalgenome.org/kb/conditions/MONDO:0032819","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12299","Dosage Working Group","","","","","",""
"TRIM2","HGNC:15974","https://search.clinicalgenome.org/kb/genes/HGNC:15974","Charcot-Marie-Tooth disease type 2R","MONDO:0014208","https://search.clinicalgenome.org/kb/conditions/MONDO:0014208","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15974","Dosage Working Group","","","","","",""
"TRIM32","HGNC:16380","https://search.clinicalgenome.org/kb/genes/HGNC:16380","autosomal recessive limb-girdle muscular dystrophy","MONDO:0015152","https://search.clinicalgenome.org/kb/conditions/MONDO:0015152","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16380","Dosage Working Group","definitive evidence (11/14/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbabe4ea-579e-4d98-a4b7-5ff84ee7f245-2024-11-14T170000.000Z","Muscular Dystrophies and Myopathies","","",""
"TRIM32","HGNC:16380","https://search.clinicalgenome.org/kb/genes/HGNC:16380","Bardet-Biedl syndrome 11","MONDO:0014439","https://search.clinicalgenome.org/kb/conditions/MONDO:0014439","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16380","Dosage Working Group","limited evidence (07/11/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4140e7c5-ac53-4748-b20f-07d3877ea0d6-2024-07-11T160000.000Z","Retina","","",""
"TRIM32","HGNC:16380","https://search.clinicalgenome.org/kb/genes/HGNC:16380","autosomal recessive limb-girdle muscular dystrophy type 2H","MONDO:0009683","https://search.clinicalgenome.org/kb/conditions/MONDO:0009683","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16380","Dosage Working Group","","","","","",""
"TRIM37","HGNC:7523","https://search.clinicalgenome.org/kb/genes/HGNC:7523","mulibrey nanism","MONDO:0009664","https://search.clinicalgenome.org/kb/conditions/MONDO:0009664","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7523","Dosage Working Group","definitive evidence (05/01/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0faa569d-4e0c-4809-a1b2-a93d460751e8-2020-05-01T160000.000Z","Peroxisomal Disorders","","",""
"TRIM44","HGNC:19016","https://search.clinicalgenome.org/kb/genes/HGNC:19016","aniridia 3","MONDO:0014938","https://search.clinicalgenome.org/kb/conditions/MONDO:0014938","Autosomal dominant inheritance","","","","","limited evidence (03/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c03ad7e1-74ea-4c47-b372-5beb8fbf4e97-2023-03-16T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"TRIM63","HGNC:16007","https://search.clinicalgenome.org/kb/genes/HGNC:16007","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance | Autosomal recessive inheritance","","","","","disputing (10/27/2022) | moderate evidence (06/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9f35d3c-2d30-4947-9d10-87d21405586e-2022-10-27T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e8365b8-3238-4844-8392-58f66be7f318-2024-06-06T160000.000Z","Hereditary Cardiovascular Disease | Hereditary Cardiovascular Disease","","",""
"TRIM8","HGNC:15579","https://search.clinicalgenome.org/kb/genes/HGNC:15579","focal segmental glomerulosclerosis and neurodevelopmental syndrome","MONDO:0100111","https://search.clinicalgenome.org/kb/conditions/MONDO:0100111","Autosomal dominant inheritance","","","","","definitive evidence (10/06/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_457fd90a-dad8-4711-97d0-59eb240a299e-2021-10-06T160000.000Z","Intellectual Disability and Autism","","",""
"TRIO","HGNC:12303","https://search.clinicalgenome.org/kb/genes/HGNC:12303","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/24/2018)","0 - No Evidence for Triplosensitivity (01/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12303","Dosage Working Group","definitive evidence (11/18/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ff3b6c9b-4c51-4414-b92c-20e45758ab61-2021-11-18T192046.961Z","Intellectual Disability and Autism","","",""
"TRIO","HGNC:12303","https://search.clinicalgenome.org/kb/genes/HGNC:12303","micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome","MONDO:0014892","https://search.clinicalgenome.org/kb/conditions/MONDO:0014892","N/A","3 - Sufficient Evidence for Haploinsufficiency (01/24/2018)","0 - No Evidence for Triplosensitivity (01/24/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12303","Dosage Working Group","","","","","",""
"TRIOBP","HGNC:17009","https://search.clinicalgenome.org/kb/genes/HGNC:17009","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17009","Dosage Working Group","definitive evidence (06/06/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9543","Hearing Loss","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TRIOBP","HGNC:17009","https://search.clinicalgenome.org/kb/genes/HGNC:17009","prelingual non-syndromic genetic hearing loss","MONDO:0016297","https://search.clinicalgenome.org/kb/conditions/MONDO:0016297","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17009","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TRIOBP","HGNC:17009","https://search.clinicalgenome.org/kb/genes/HGNC:17009","autosomal recessive nonsyndromic hearing loss 28","MONDO:0012355","https://search.clinicalgenome.org/kb/conditions/MONDO:0012355","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17009","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TRIOBP","HGNC:17009","https://search.clinicalgenome.org/kb/genes/HGNC:17009","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17009","Dosage Working Group","","","","Strong Actionability (10/29/2020)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1018",""
"TRIP11","HGNC:12305","https://search.clinicalgenome.org/kb/genes/HGNC:12305","TRIP11-related skeletal dysplasia","MONDO:1040009","https://search.clinicalgenome.org/kb/conditions/MONDO:1040009","Autosomal recessive inheritance","","","","","definitive evidence (09/30/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6867387e-63e6-43f1-83e4-e988db17b661-2024-09-30T160000.000Z","Prenatal","","",""
"TRIP12","HGNC:12306","https://search.clinicalgenome.org/kb/genes/HGNC:12306","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/02/2018)","0 - No Evidence for Triplosensitivity (04/02/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12306","Dosage Working Group","definitive evidence (04/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_011b99b3-0d17-4615-800e-36f4bacd8117-2022-04-05T060000.000Z","Intellectual Disability and Autism","","",""
"TRIP12","HGNC:12306","https://search.clinicalgenome.org/kb/genes/HGNC:12306","Clark-Baraitser syndrome","MONDO:0030914","https://search.clinicalgenome.org/kb/conditions/MONDO:0030914","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/02/2018)","0 - No Evidence for Triplosensitivity (04/02/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12306","Dosage Working Group","","","","","",""
"TRIP4","HGNC:12310","https://search.clinicalgenome.org/kb/genes/HGNC:12310","spinal muscular atrophy with congenital bone fractures 1","MONDO:0014806","https://search.clinicalgenome.org/kb/conditions/MONDO:0014806","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/17/2018)","0 - No Evidence for Triplosensitivity (08/17/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12310","Dosage Working Group","","","","","",""
"TRIT1","HGNC:20286","https://search.clinicalgenome.org/kb/genes/HGNC:20286","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (09/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0473ea4b-40cb-4f4c-b986-e96b1ae18a9f-2022-09-13T160000.000Z","Mitochondrial Diseases","","",""
"TRMT10A","HGNC:28403","https://search.clinicalgenome.org/kb/genes/HGNC:28403","microcephaly, short stature, and impaired glucose metabolism 1","MONDO:0000208","https://search.clinicalgenome.org/kb/conditions/MONDO:0000208","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28403","Dosage Working Group","","","","","",""
"TRMT10C","HGNC:26022","https://search.clinicalgenome.org/kb/genes/HGNC:26022","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (09/13/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5406ef5-ce74-4762-9709-8791775bccac-2022-09-13T160000.000Z","Mitochondrial Diseases","","",""
"TRMT5","HGNC:23141","https://search.clinicalgenome.org/kb/genes/HGNC:23141","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (07/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4d1268d1-4c34-4ab0-a7fd-ef5ccc90415f-2022-07-18T160000.000Z","Mitochondrial Diseases","","",""
"TRMU","HGNC:25481","https://search.clinicalgenome.org/kb/genes/HGNC:25481","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25481","Dosage Working Group","moderate evidence (01/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1d9d958-be13-4018-ab9c-305788171d1e-2021-01-21T004755.799Z","Mitochondrial Diseases","","",""
"TRMU","HGNC:25481","https://search.clinicalgenome.org/kb/genes/HGNC:25481","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25481","Dosage Working Group","definitive evidence (05/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d025dc5a-fd47-4418-bd20-e2dca69e3308-2024-05-23T040000.000Z","Mitochondrial Diseases","","",""
"TRMU","HGNC:25481","https://search.clinicalgenome.org/kb/genes/HGNC:25481","acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins","MONDO:0013111","https://search.clinicalgenome.org/kb/conditions/MONDO:0013111","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25481","Dosage Working Group","","","","","",""
"TRNT1","HGNC:17341","https://search.clinicalgenome.org/kb/genes/HGNC:17341","congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome","MONDO:0014487","https://search.clinicalgenome.org/kb/conditions/MONDO:0014487","Autosomal recessive inheritance","","","","","definitive evidence (10/30/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6df64a62-650c-4659-b2e8-ee51263fcdbc-2022-10-30T120000.000Z","Antibody Deficiencies GCEP","","",""
"TRPM1","HGNC:7146","https://search.clinicalgenome.org/kb/genes/HGNC:7146","TRPM1-related retinopathy","MONDO:0800402","https://search.clinicalgenome.org/kb/conditions/MONDO:0800402","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7146","Dosage Working Group","definitive evidence (10/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ecc95d2-f47b-4238-9475-2bd96f4b92db-2022-10-06T160000.000Z","Retina","","",""
"TRPM1","HGNC:7146","https://search.clinicalgenome.org/kb/genes/HGNC:7146","congenital stationary night blindness 1C","MONDO:0013183","https://search.clinicalgenome.org/kb/conditions/MONDO:0013183","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7146","Dosage Working Group","","","","","",""
"TRPM3","HGNC:17992","https://search.clinicalgenome.org/kb/genes/HGNC:17992","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","Autosomal dominant inheritance","","","","","definitive evidence (05/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_938297d0-b985-4dd2-8ae0-da75a344db22-2024-05-23T060000.000Z","Intellectual Disability and Autism","","",""
"TRPM3","HGNC:17992","https://search.clinicalgenome.org/kb/genes/HGNC:17992","cataract 50 with or without glaucoma","MONDO:0859382","https://search.clinicalgenome.org/kb/conditions/MONDO:0859382","Autosomal dominant inheritance","","","","","moderate evidence (12/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca3af405-9755-4338-85b3-e7ed94b6fbc1-2024-12-03T170000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"TRPM4","HGNC:17993","https://search.clinicalgenome.org/kb/genes/HGNC:17993","Brugada syndrome","MONDO:0015263","https://search.clinicalgenome.org/kb/conditions/MONDO:0015263","Autosomal dominant inheritance","","","","","disputing (11/21/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10164","Brugada Syndrome","","",""
"TRPM7","HGNC:17994","https://search.clinicalgenome.org/kb/genes/HGNC:17994","macrothrombocytopenia, isolated","MONDO:0031447","https://search.clinicalgenome.org/kb/conditions/MONDO:0031447","Autosomal dominant inheritance","","","","","moderate evidence (06/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_54c99d3f-327b-46d6-9f3b-701fdc65eab9-2024-06-03T160000.000Z","Hemostasis Thrombosis","","",""
"TRPS1","HGNC:12340","https://search.clinicalgenome.org/kb/genes/HGNC:12340","trichorhinophalangeal syndrome type I","MONDO:0008596","https://search.clinicalgenome.org/kb/conditions/MONDO:0008596","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/08/2020)","0 - No Evidence for Triplosensitivity (07/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12340","Dosage Working Group","","","","","",""
"TRPV4","HGNC:18083","https://search.clinicalgenome.org/kb/genes/HGNC:18083","neuromuscular disease","MONDO:0019056","https://search.clinicalgenome.org/kb/conditions/MONDO:0019056","Autosomal dominant inheritance","","","","","definitive evidence (12/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b89b03c3-24c7-4424-989c-abd65eb2b7ec-2021-12-14T145310.482Z","Charcot-Marie-Tooth","","",""
"TRPV4","HGNC:18083","https://search.clinicalgenome.org/kb/genes/HGNC:18083","TRPV4-related bone disorder","MONDO:0018240","https://search.clinicalgenome.org/kb/conditions/MONDO:0018240","Autosomal dominant inheritance","","","","","definitive evidence (10/20/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_13bce420-9049-41ae-b1e8-ebcae68a3f9e-2023-10-20T160000.000Z","Skeletal Disorders","","",""
"TRRAP","HGNC:12347","https://search.clinicalgenome.org/kb/genes/HGNC:12347","complex neurodevelopmental disorder with or without congenital anomalies","MONDO:0100465","https://search.clinicalgenome.org/kb/conditions/MONDO:0100465","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (04/24/2019)","0 - No Evidence for Triplosensitivity (04/24/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12347","Dosage Working Group","definitive evidence (07/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03424cde-a847-4bd0-91eb-9707a7e51fa2-2022-07-19T180000.000Z","Intellectual Disability and Autism","","",""
"TRRAP","HGNC:12347","https://search.clinicalgenome.org/kb/genes/HGNC:12347","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (04/24/2019)","0 - No Evidence for Triplosensitivity (04/24/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12347","Dosage Working Group","","","","","",""
"TSC1","HGNC:12362","https://search.clinicalgenome.org/kb/genes/HGNC:12362","tuberous sclerosis","MONDO:0001734","https://search.clinicalgenome.org/kb/conditions/MONDO:0001734","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/13/2020)","0 - No Evidence for Triplosensitivity (10/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12362","Dosage Working Group","definitive evidence (01/23/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_61b07bb0-1385-4344-8b6c-571f6a271000-2019-01-23T170000.000Z","General Gene Curation","Moderate Actionability (12/17/2021) | Strong Actionability (12/17/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC026 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC026"," | "
"TSC1","HGNC:12362","https://search.clinicalgenome.org/kb/genes/HGNC:12362","tuberous sclerosis 1","MONDO:0008612","https://search.clinicalgenome.org/kb/conditions/MONDO:0008612","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/13/2020)","0 - No Evidence for Triplosensitivity (10/13/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12362","Dosage Working Group","","","","Moderate Actionability (12/17/2021) | Strong Actionability (12/17/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC026 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC026"," | "
"TSC2","HGNC:12363","https://search.clinicalgenome.org/kb/genes/HGNC:12363","tuberous sclerosis","MONDO:0001734","https://search.clinicalgenome.org/kb/conditions/MONDO:0001734","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/10/2020)","0 - No Evidence for Triplosensitivity (06/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12363","Dosage Working Group","definitive evidence (01/23/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0b0a33ff-44ca-497c-8499-cc1f50cead93-2019-01-23T170000.000Z","General Gene Curation","Moderate Actionability (12/17/2021) | Strong Actionability (12/17/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC026 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC026"," | "
"TSC2","HGNC:12363","https://search.clinicalgenome.org/kb/genes/HGNC:12363","tuberous sclerosis 2","MONDO:0013199","https://search.clinicalgenome.org/kb/conditions/MONDO:0013199","N/A","3 - Sufficient Evidence for Haploinsufficiency (06/10/2020)","0 - No Evidence for Triplosensitivity (06/10/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12363","Dosage Working Group","","","","Moderate Actionability (12/17/2021) | Strong Actionability (12/17/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC026 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC026"," | "
"TSEN2","HGNC:28422","https://search.clinicalgenome.org/kb/genes/HGNC:28422","pontocerebellar hypoplasia type 2B","MONDO:0012890","https://search.clinicalgenome.org/kb/conditions/MONDO:0012890","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28422","Dosage Working Group","","","","","",""
"TSEN54","HGNC:27561","https://search.clinicalgenome.org/kb/genes/HGNC:27561","pontocerebellar hypoplasia","MONDO:0020135","https://search.clinicalgenome.org/kb/conditions/MONDO:0020135","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:27561","Dosage Working Group","","","","","",""
"TSFM","HGNC:12367","https://search.clinicalgenome.org/kb/genes/HGNC:12367","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","moderate evidence (02/12/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e3d30a3f-a054-4812-9b97-116a8834fcb1-2020-02-12T195529.785Z","Mitochondrial Diseases","","",""
"TSFM","HGNC:12367","https://search.clinicalgenome.org/kb/genes/HGNC:12367","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (09/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5ed7fa3d-6d20-4570-89c0-f83eb0cf3588-2023-09-06T040000.000Z","Mitochondrial Diseases","","",""
"TSHZ1","HGNC:10669","https://search.clinicalgenome.org/kb/genes/HGNC:10669","aural atresia, congenital","MONDO:0011921","https://search.clinicalgenome.org/kb/conditions/MONDO:0011921","Autosomal dominant inheritance","","","","","limited evidence (07/23/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cfbe0bb6-f9c6-447b-bec9-911af6a67566-2024-07-23T160000.000Z","Syndromic Disorders","","",""
"TSPAN12","HGNC:21641","https://search.clinicalgenome.org/kb/genes/HGNC:21641","TSPAN12-related exudative vitreoretinopathy","MONDO:0700231","https://search.clinicalgenome.org/kb/conditions/MONDO:0700231","Semidominant inheritance","","","","","definitive evidence (01/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c7915a6-c4eb-47c7-9c51-a81279b6e6a4-2022-01-06T170000.000Z","Retina","","",""
"TSPAN7","HGNC:11854","https://search.clinicalgenome.org/kb/genes/HGNC:11854","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (06/22/2022)","0 - No Evidence for Triplosensitivity (06/22/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11854","Dosage Working Group","moderate evidence (12/02/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2716e7b3-e038-421a-b584-55f6797502a4-2020-12-02T170000.000Z","Intellectual Disability and Autism","","",""
"TSPAN7","HGNC:11854","https://search.clinicalgenome.org/kb/genes/HGNC:11854","X-linked intellectual disability","MONDO:0100284","https://search.clinicalgenome.org/kb/conditions/MONDO:0100284","N/A","1 - Little Evidence for Haploinsufficiency (06/22/2022)","0 - No Evidence for Triplosensitivity (06/22/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11854","Dosage Working Group","","","","","",""
"TSPEAR","HGNC:1268","https://search.clinicalgenome.org/kb/genes/HGNC:1268","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1268","Dosage Working Group","disputing (10/31/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f0928b06-d3bb-41fe-8222-d7f0e6c0a25a-2024-10-31T160000.000Z","Hearing Loss","","",""
"TSPEAR","HGNC:1268","https://search.clinicalgenome.org/kb/genes/HGNC:1268","autosomal recessive nonsyndromic hearing loss 98","MONDO:0013929","https://search.clinicalgenome.org/kb/conditions/MONDO:0013929","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1268","Dosage Working Group","","","","","",""
"TTC12","HGNC:23700","https://search.clinicalgenome.org/kb/genes/HGNC:23700","ciliary dyskinesia, primary, 45","MONDO:0032924","https://search.clinicalgenome.org/kb/conditions/MONDO:0032924","Autosomal recessive inheritance","","","","","definitive evidence (05/08/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ff366d1-58ff-44dd-b7c3-799d1fe250c6-2025-05-08T160000.000Z","Motile Ciliopathy GCEP","","",""
"TTC19","HGNC:26006","https://search.clinicalgenome.org/kb/genes/HGNC:26006","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26006","Dosage Working Group","definitive evidence (09/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8dc9dcb6-1f63-41b1-80f1-a0f2a87b5ec4-2019-09-19T160132.570Z","Mitochondrial Diseases","","",""
"TTC19","HGNC:26006","https://search.clinicalgenome.org/kb/genes/HGNC:26006","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26006","Dosage Working Group","definitive evidence (08/22/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cbdcc236-0167-4739-a925-0812b5cca283-2024-08-22T040000.000Z","Mitochondrial Diseases","","",""
"TTC19","HGNC:26006","https://search.clinicalgenome.org/kb/genes/HGNC:26006","mitochondrial complex III deficiency nuclear type 2","MONDO:0014063","https://search.clinicalgenome.org/kb/conditions/MONDO:0014063","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26006","Dosage Working Group","","","","","",""
"TTC21B","HGNC:25660","https://search.clinicalgenome.org/kb/genes/HGNC:25660","nephronophthisis 12","MONDO:0013442","https://search.clinicalgenome.org/kb/conditions/MONDO:0013442","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25660","Dosage Working Group","definitive evidence (11/10/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60f93fe0-145f-47a7-9ecf-613b1b1dfa7f-2021-11-10T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"TTC7A","HGNC:19750","https://search.clinicalgenome.org/kb/genes/HGNC:19750","multiple intestinal atresia","MONDO:0009465","https://search.clinicalgenome.org/kb/conditions/MONDO:0009465","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19750","Dosage Working Group","definitive evidence (10/21/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80cadac5-067c-49e7-a021-ee4eec83984a-2021-10-21T184517.744Z","SCID-CID","","",""
"TTC8","HGNC:20087","https://search.clinicalgenome.org/kb/genes/HGNC:20087","TTC8-related ciliopathy","MONDO:1040049","https://search.clinicalgenome.org/kb/conditions/MONDO:1040049","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20087","Dosage Working Group","definitive evidence (06/06/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ac205a8-bf9d-4c54-8d1c-c5d3af4b4aab-2024-06-06T160000.000Z","Retina","","",""
"TTC8","HGNC:20087","https://search.clinicalgenome.org/kb/genes/HGNC:20087","Bardet-Biedl syndrome 8","MONDO:0014436","https://search.clinicalgenome.org/kb/conditions/MONDO:0014436","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20087","Dosage Working Group","","","","","",""
"TTLL5","HGNC:19963","https://search.clinicalgenome.org/kb/genes/HGNC:19963","TTLL5-related retinopathy","MONDO:1040038","https://search.clinicalgenome.org/kb/conditions/MONDO:1040038","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19963","Dosage Working Group","definitive evidence (10/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db2083b7-fe3d-459e-8874-35ed9ebb0785-2023-10-05T160000.000Z","Retina","","",""
"TTLL5","HGNC:19963","https://search.clinicalgenome.org/kb/genes/HGNC:19963","cone-rod dystrophy 19","MONDO:0014372","https://search.clinicalgenome.org/kb/conditions/MONDO:0014372","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19963","Dosage Working Group","","","","","",""
"TTN","HGNC:12403","https://search.clinicalgenome.org/kb/genes/HGNC:12403","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/02/2021)","0 - No Evidence for Triplosensitivity (08/02/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12403","Dosage Working Group","limited evidence (10/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c17e22eb-c6fc-487d-bcf6-001bb85fdabd-2025-10-28T160000.000Z","Hereditary Cardiovascular Disease","","",""
"TTN","HGNC:12403","https://search.clinicalgenome.org/kb/genes/HGNC:12403","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/02/2021)","0 - No Evidence for Triplosensitivity (08/02/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12403","Dosage Working Group","definitive evidence (05/30/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1ec53217-814e-44b3-a7b7-0f18311c20f3-2025-05-30T160000.000Z","Dilated Cardiomyopathy","","",""
"TTN","HGNC:12403","https://search.clinicalgenome.org/kb/genes/HGNC:12403","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/02/2021)","0 - No Evidence for Triplosensitivity (08/02/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12403","Dosage Working Group","disputing (10/28/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a93ab74d-c9fa-4e74-b849-c8c6e8366050-2025-10-28T160000.000Z","Hereditary Cardiovascular Disease","","",""
"TTN","HGNC:12403","https://search.clinicalgenome.org/kb/genes/HGNC:12403","tibial muscular dystrophy","MONDO:0010870","https://search.clinicalgenome.org/kb/conditions/MONDO:0010870","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/02/2021)","0 - No Evidence for Triplosensitivity (08/02/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12403","Dosage Working Group","moderate evidence (03/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ec556f45-8dbc-43f0-96df-29e69d7f3411-2022-03-14T205017.462Z","Congenital Myopathies","","",""
"TTN","HGNC:12403","https://search.clinicalgenome.org/kb/genes/HGNC:12403","myopathy, myofibrillar, 9, with early respiratory failure","MONDO:0011362","https://search.clinicalgenome.org/kb/conditions/MONDO:0011362","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/02/2021)","0 - No Evidence for Triplosensitivity (08/02/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12403","Dosage Working Group","moderate evidence (03/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bade9ef3-17fa-42ee-a2d7-9c9b985b1503-2022-03-14T205117.630Z","Congenital Myopathies","","",""
"TTN","HGNC:12403","https://search.clinicalgenome.org/kb/genes/HGNC:12403","TTN-related myopathy","MONDO:0100175","https://search.clinicalgenome.org/kb/conditions/MONDO:0100175","Autosomal recessive inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/02/2021)","0 - No Evidence for Triplosensitivity (08/02/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12403","Dosage Working Group","definitive evidence (01/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_41ead80d-f134-43e5-9373-ac55bdcfc0a1-2022-01-11T170000.000Z","Congenital Myopathies","","",""
"TTR","HGNC:12405","https://search.clinicalgenome.org/kb/genes/HGNC:12405","obsolete hereditary ATTR amyloidosis","MONDO:0017132","https://search.clinicalgenome.org/kb/conditions/MONDO:0017132","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/23/2025)","0 - No Evidence for Triplosensitivity (07/23/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12405","Dosage Working Group","definitive evidence (12/11/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a189cf4-767c-405c-80dc-4aa1727f6f73-2017-12-11T050000.000Z","Hypertrophic Cardiomyopathy","","",""
"TTR","HGNC:12405","https://search.clinicalgenome.org/kb/genes/HGNC:12405","familial amyloid neuropathy","MONDO:0007100","https://search.clinicalgenome.org/kb/conditions/MONDO:0007100","N/A","0 - No Evidence for Haploinsufficiency (07/23/2025)","0 - No Evidence for Triplosensitivity (07/23/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12405","Dosage Working Group","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (10/24/2019) | Strong Actionability (12/23/2019)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC145 | https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC145"," | "
"TUBA1A","HGNC:20766","https://search.clinicalgenome.org/kb/genes/HGNC:20766","tubulinopathy","MONDO:0100153","https://search.clinicalgenome.org/kb/conditions/MONDO:0100153","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (04/14/2016)","0 - No Evidence for Triplosensitivity (04/14/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20766","Dosage Working Group","definitive evidence (03/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ee155a3-371d-4618-849c-38adc95728ee-2024-03-25T160000.000Z","Brain Malformations","","",""
"TUBA4A","HGNC:12407","https://search.clinicalgenome.org/kb/genes/HGNC:12407","amyotrophic lateral sclerosis type 22","MONDO:0014531","https://search.clinicalgenome.org/kb/conditions/MONDO:0014531","Autosomal dominant inheritance","","","","","moderate evidence (03/27/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7349d6e4-f351-4a8a-80f6-af62d3e716e5-2025-03-27T160000.000Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"TUBA4A","HGNC:12407","https://search.clinicalgenome.org/kb/genes/HGNC:12407","autosomal dominant macrothrombocytopenia","MONDO:0015372","https://search.clinicalgenome.org/kb/conditions/MONDO:0015372","Autosomal dominant inheritance","","","","","limited evidence (11/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7d595dc4-2fa3-478a-a7b7-ffb499fa2ab7-2023-11-06T170000.000Z","Hemostasis Thrombosis","","",""
"TUBA8","HGNC:12410","https://search.clinicalgenome.org/kb/genes/HGNC:12410","polymicrogyria with optic nerve hypoplasia","MONDO:0013172","https://search.clinicalgenome.org/kb/conditions/MONDO:0013172","Autosomal recessive inheritance","","","","","disputing (12/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bd5681e-2a42-4bbb-be5f-dabe6efa5334-2023-12-19T170000.000Z","Brain Malformations","","",""
"TUBB1","HGNC:16257","https://search.clinicalgenome.org/kb/genes/HGNC:16257","macrothrombocytopenia, isolated, 1, autosomal dominant","MONDO:0800047","https://search.clinicalgenome.org/kb/conditions/MONDO:0800047","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (09/24/2025)","0 - No Evidence for Triplosensitivity (09/24/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16257","Dosage Working Group","definitive evidence (10/23/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbf068c4-8e07-4861-8eee-8e7d9572b122-2019-10-23T040000.000Z","Hemostasis Thrombosis","","",""
"TUBB2A","HGNC:12412","https://search.clinicalgenome.org/kb/genes/HGNC:12412","tubulinopathy","MONDO:0100153","https://search.clinicalgenome.org/kb/conditions/MONDO:0100153","Autosomal dominant inheritance","","","","","definitive evidence (01/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cafcf34-7bc2-4b06-9455-f7fad2e0b6b5-2023-01-05T170000.000Z","Cerebral Palsy","","",""
"TUBB2B","HGNC:30829","https://search.clinicalgenome.org/kb/genes/HGNC:30829","complex cortical dysplasia with other brain malformations","MONDO:0000904","https://search.clinicalgenome.org/kb/conditions/MONDO:0000904","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (09/09/2025)","0 - No Evidence for Triplosensitivity (09/09/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30829","Dosage Working Group","definitive evidence (04/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_81ced164-4ef1-4256-a727-84e79930efcc-2020-04-26T040000.000Z","Brain Malformations","","",""
"TUBB3","HGNC:20772","https://search.clinicalgenome.org/kb/genes/HGNC:20772","TUBB3-related tubulinopathy","MONDO:0100154","https://search.clinicalgenome.org/kb/conditions/MONDO:0100154","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (08/30/2017)","0 - No Evidence for Triplosensitivity (08/30/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20772","Dosage Working Group","definitive evidence (09/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5c84fdf7-0c4e-4168-965b-99e925c9d77b-2022-09-08T160000.000Z","Intellectual Disability and Autism","","",""
"TUBB4A","HGNC:20774","https://search.clinicalgenome.org/kb/genes/HGNC:20774","TUBB4A-related neurologic disorder","MONDO:0800470","https://search.clinicalgenome.org/kb/conditions/MONDO:0800470","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (11/19/2014)","0 - No Evidence for Triplosensitivity (11/19/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20774","Dosage Working Group","definitive evidence (03/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_37d63695-b5d4-48e2-8c20-38cfafaea017-2024-03-07T170000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"TUBB4B","HGNC:20771","https://search.clinicalgenome.org/kb/genes/HGNC:20771","TUBB4B-related ciliopathy","MONDO:1060115","https://search.clinicalgenome.org/kb/conditions/MONDO:1060115","Autosomal dominant inheritance","","","","","definitive evidence (06/25/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b80d55d-0060-4b1c-849b-648011337400-2025-06-25T160000.000Z","Motile Ciliopathy GCEP","","",""
"TUBG1","HGNC:12417","https://search.clinicalgenome.org/kb/genes/HGNC:12417","lissencephaly spectrum disorders","MONDO:0018838","https://search.clinicalgenome.org/kb/conditions/MONDO:0018838","Autosomal dominant inheritance","","","","","definitive evidence (04/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f773acb3-c59f-4c34-90f7-b5396b2dbfac-2022-04-26T160000.000Z","Brain Malformations","","",""
"TUBGCP6","HGNC:18127","https://search.clinicalgenome.org/kb/genes/HGNC:18127","microcephaly and chorioretinopathy 1","MONDO:0009624","https://search.clinicalgenome.org/kb/conditions/MONDO:0009624","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18127","Dosage Working Group","definitive evidence (06/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccb03ff1-94d3-4387-b312-ac8e38d83d89-2023-06-05T160000.000Z","Prenatal","","",""
"TUFM","HGNC:12420","https://search.clinicalgenome.org/kb/genes/HGNC:12420","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12420","Dosage Working Group","moderate evidence (10/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da1707cf-80cd-4669-be96-b273ac96b8b4-2023-10-02T040000.000Z","Mitochondrial Diseases","","",""
"TUFM","HGNC:12420","https://search.clinicalgenome.org/kb/genes/HGNC:12420","combined oxidative phosphorylation defect type 4","MONDO:0012534","https://search.clinicalgenome.org/kb/conditions/MONDO:0012534","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12420","Dosage Working Group","","","","","",""
"TULP3","HGNC:12425","https://search.clinicalgenome.org/kb/genes/HGNC:12425","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","strong evidence (07/27/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6f45b6a3-7f38-436f-bfde-beac067fdb88-2022-07-27T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"TUSC3","HGNC:30242","https://search.clinicalgenome.org/kb/genes/HGNC:30242","intellectual disability","MONDO:0001071","https://search.clinicalgenome.org/kb/conditions/MONDO:0001071","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (12/01/2021)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30242","Dosage Working Group","definitive evidence (04/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db38ed95-d1fe-43d6-bf80-c5e3f24f7d1b-2020-04-07T160000.000Z","Intellectual Disability and Autism","","",""
"TWIST1","HGNC:12428","https://search.clinicalgenome.org/kb/genes/HGNC:12428","Saethre-Chotzen syndrome","MONDO:0007042","https://search.clinicalgenome.org/kb/conditions/MONDO:0007042","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/16/2020)","0 - No Evidence for Triplosensitivity (12/16/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12428","Dosage Working Group","definitive evidence (01/28/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1730a1bb-49c2-4c11-8c45-e8747d8fb91d-2021-01-28T180000.000Z","Craniofacial Malformations","","",""
"TWIST1","HGNC:12428","https://search.clinicalgenome.org/kb/genes/HGNC:12428","Sweeney-Cox syndrome","MONDO:0060592","https://search.clinicalgenome.org/kb/conditions/MONDO:0060592","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/16/2020)","0 - No Evidence for Triplosensitivity (12/16/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12428","Dosage Working Group","limited evidence (03/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14ba10ad-ebb5-491f-b4d6-639890ab7ab9-2021-03-26T213222.762Z","Craniofacial Malformations","","",""
"TWIST1","HGNC:12428","https://search.clinicalgenome.org/kb/genes/HGNC:12428","TWIST1-related craniosynostosis","MONDO:0007399","https://search.clinicalgenome.org/kb/conditions/MONDO:0007399","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/16/2020)","0 - No Evidence for Triplosensitivity (12/16/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12428","Dosage Working Group","moderate evidence (06/10/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bda425f8-b760-4484-9336-b3e572d402ab-2021-06-10T160000.000Z","Craniofacial Malformations","","",""
"TWIST2","HGNC:20670","https://search.clinicalgenome.org/kb/genes/HGNC:20670","focal facial dermal dysplasia type III","MONDO:0009203","https://search.clinicalgenome.org/kb/conditions/MONDO:0009203","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20670","Dosage Working Group","","","","","",""
"TXNDC15","HGNC:20652","https://search.clinicalgenome.org/kb/genes/HGNC:20652","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","strong evidence (09/24/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0aa4b86a-ebc7-4338-8ac7-58523499137a-2024-09-24T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"TXNL4A","HGNC:30551","https://search.clinicalgenome.org/kb/genes/HGNC:30551","choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome","MONDO:0012064","https://search.clinicalgenome.org/kb/conditions/MONDO:0012064","Autosomal recessive inheritance","","","","","definitive evidence (02/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bac99de0-8f34-4166-b8ef-a5c44290281c-2024-02-16T170000.000Z","Syndromic Disorders","","",""
"TYMP","HGNC:3148","https://search.clinicalgenome.org/kb/genes/HGNC:3148","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3148","Dosage Working Group","definitive evidence (10/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4efaa60a-76b6-4f99-bf9d-1c91b2b3ce74-2023-10-02T040000.000Z","Mitochondrial Diseases","","",""
"TYMP","HGNC:3148","https://search.clinicalgenome.org/kb/genes/HGNC:3148","mitochondrial DNA depletion syndrome 1","MONDO:0011283","https://search.clinicalgenome.org/kb/conditions/MONDO:0011283","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3148","Dosage Working Group","","","","","",""
"TYR","HGNC:12442","https://search.clinicalgenome.org/kb/genes/HGNC:12442","oculocutaneous albinism type 1","MONDO:0018135","https://search.clinicalgenome.org/kb/conditions/MONDO:0018135","Autosomal recessive inheritance","","","","","definitive evidence (08/28/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c9b52af2-1674-4f3d-9d7f-398a5f7f6875-2020-08-28T160000.000Z","Aminoacidopathy","","",""
"TYROBP","HGNC:12449","https://search.clinicalgenome.org/kb/genes/HGNC:12449","polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1","MONDO:0020749","https://search.clinicalgenome.org/kb/conditions/MONDO:0020749","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12449","Dosage Working Group","","","","","",""
"TYRP1","HGNC:12450","https://search.clinicalgenome.org/kb/genes/HGNC:12450","oculocutaneous albinism type 3","MONDO:0008747","https://search.clinicalgenome.org/kb/conditions/MONDO:0008747","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12450","Dosage Working Group","","","","","",""
"UBA2","HGNC:30661","https://search.clinicalgenome.org/kb/genes/HGNC:30661","ACCES syndrome","MONDO:0859262","https://search.clinicalgenome.org/kb/conditions/MONDO:0859262","Autosomal dominant inheritance","","","","","definitive evidence (09/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2b140d1b-eef8-4711-87ff-96e660e79c18-2024-09-04T160000.000Z","Syndromic Disorders","","",""
"UBA5","HGNC:23230","https://search.clinicalgenome.org/kb/genes/HGNC:23230","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","","","","","definitive evidence (08/05/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f8260a1-2357-4caa-8c13-949e1ce4e190-2025-08-05T160000.000Z","Epilepsy","","",""
"UBE2A","HGNC:12472","https://search.clinicalgenome.org/kb/genes/HGNC:12472","syndromic X-linked intellectual disability Nascimento type","MONDO:0010461","https://search.clinicalgenome.org/kb/conditions/MONDO:0010461","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/22/2019)","0 - No Evidence for Triplosensitivity (05/22/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12472","Dosage Working Group","definitive evidence (07/02/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_94765cdb-fe12-4098-b28e-20cd58744271-2018-07-02T100000.000Z","Intellectual Disability and Autism","","",""
"UBE2T","HGNC:25009","https://search.clinicalgenome.org/kb/genes/HGNC:25009","Fanconi anemia complementation group T","MONDO:0014638","https://search.clinicalgenome.org/kb/conditions/MONDO:0014638","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (09/01/2020)","0 - No Evidence for Triplosensitivity (09/01/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25009","Dosage Working Group","","","","","",""
"UBE3A","HGNC:12496","https://search.clinicalgenome.org/kb/genes/HGNC:12496","Angelman syndrome","MONDO:0007113","https://search.clinicalgenome.org/kb/conditions/MONDO:0007113","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (08/23/2012)","0 - No Evidence for Triplosensitivity (08/23/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12496","Dosage Working Group","definitive evidence (05/02/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_df25de82-ea9a-4d86-8b42-6587a39650e3-2018-05-02T132344.716Z","Rett and Angelman-like Disorders","","",""
"UBE3B","HGNC:13478","https://search.clinicalgenome.org/kb/genes/HGNC:13478","oculocerebrofacial syndrome, Kaufman type","MONDO:0009485","https://search.clinicalgenome.org/kb/conditions/MONDO:0009485","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13478","Dosage Working Group","definitive evidence (07/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5604d13c-a46a-4a83-87ec-e4e94bbed3f0-2021-07-30T130354.346Z","Syndromic Disorders","","",""
"UBN2","HGNC:21931","https://search.clinicalgenome.org/kb/genes/HGNC:21931","autism spectrum disorder","MONDO:0005258","https://search.clinicalgenome.org/kb/conditions/MONDO:0005258","N/A","1 - Little Evidence for Haploinsufficiency (07/24/2024)","0 - No Evidence for Triplosensitivity (07/24/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21931","Dosage Working Group","","","","","",""
"UBQLN2","HGNC:12509","https://search.clinicalgenome.org/kb/genes/HGNC:12509","amyotrophic lateral sclerosis type 15","MONDO:0010459","https://search.clinicalgenome.org/kb/conditions/MONDO:0010459","X-linked inheritance","","","","","definitive evidence (04/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17c06f6e-6fe1-4a61-bc35-026416e31dbb-2021-04-13T194634.543Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"UBR1","HGNC:16808","https://search.clinicalgenome.org/kb/genes/HGNC:16808","Johanson-Blizzard syndrome","MONDO:0009479","https://search.clinicalgenome.org/kb/conditions/MONDO:0009479","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16808","Dosage Working Group","","","","","",""
"UBTF","HGNC:12511","https://search.clinicalgenome.org/kb/genes/HGNC:12511","childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder","MONDO:0044701","https://search.clinicalgenome.org/kb/conditions/MONDO:0044701","Autosomal dominant inheritance","","","","","definitive evidence (08/16/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a5d6060-b955-49a0-9804-265838495310-2023-08-16T190000.000Z","Intellectual Disability and Autism","","",""
"UCHL1","HGNC:12513","https://search.clinicalgenome.org/kb/genes/HGNC:12513","hereditary spastic paraplegia","MONDO:0019064","https://search.clinicalgenome.org/kb/conditions/MONDO:0019064","Autosomal recessive inheritance | Autosomal dominant inheritance","","","","","moderate evidence (05/19/2025) | definitive evidence (05/19/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a297cb2b-e4ea-4fd9-8266-611963988941-2025-05-19T160000.000Z | https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c59d7ba6-8da7-4302-830b-c73eea1ccc79-2025-05-19T160000.000Z","Cerebral Palsy | Cerebral Palsy","","",""
"UGDH","HGNC:12525","https://search.clinicalgenome.org/kb/genes/HGNC:12525","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","disputing (06/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ecce1706-83f5-4a2e-8f15-3a2207972a69-2024-06-10T160000.000Z","Congenital Heart Disease","","",""
"UMOD","HGNC:12559","https://search.clinicalgenome.org/kb/genes/HGNC:12559","autosomal dominant medullary cystic kidney disease with or without hyperuricemia","MONDO:0008264","https://search.clinicalgenome.org/kb/conditions/MONDO:0008264","Autosomal dominant inheritance","","","","","definitive evidence (01/13/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_39233b4e-a491-47b4-8407-2e15dda89221-2021-01-13T170000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"UNC13A","HGNC:23150","https://search.clinicalgenome.org/kb/genes/HGNC:23150","congenital nervous system disorder","MONDO:0002320","https://search.clinicalgenome.org/kb/conditions/MONDO:0002320","Mode of inheritance","","","","","limited evidence (10/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8cbf5d81-6724-47ab-900c-2adef7095431-2021-10-17T040000.000Z","Syndromic Disorders","","",""
"UNC13D","HGNC:23147","https://search.clinicalgenome.org/kb/genes/HGNC:23147","familial hemophagocytic lymphohistiocytosis 3","MONDO:0012146","https://search.clinicalgenome.org/kb/conditions/MONDO:0012146","Autosomal recessive inheritance","","","","","definitive evidence (01/03/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1b2b30c4-5544-476f-8c2f-c2511c69ccfc-2024-01-03T170000.000Z","Primary Immune Regulatory Disorders","","",""
"UNC80","HGNC:26582","https://search.clinicalgenome.org/kb/genes/HGNC:26582","hypotonia, infantile, with psychomotor retardation and characteristic facies 2","MONDO:0014777","https://search.clinicalgenome.org/kb/conditions/MONDO:0014777","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/12/2025)","0 - No Evidence for Triplosensitivity (02/12/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26582","Dosage Working Group","definitive evidence (07/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7639160a-1761-4dcb-98de-2aeb61b2b080-2021-07-30T134337.292Z","Syndromic Disorders","","",""
"UNC93B1","HGNC:13481","https://search.clinicalgenome.org/kb/genes/HGNC:13481","systemic lupus erythematosus","MONDO:0007915","https://search.clinicalgenome.org/kb/conditions/MONDO:0007915","Semidominant inheritance","","","","","moderate evidence (04/09/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cd5e1c8-5047-4ea1-9045-cb5bf978613b-2025-04-09T190000.000Z","Monogenic Systemic and Incomplete Lupus Erythematosus","","",""
"UNG","HGNC:12572","https://search.clinicalgenome.org/kb/genes/HGNC:12572","hyper-IgM syndrome type 5","MONDO:0011971","https://search.clinicalgenome.org/kb/conditions/MONDO:0011971","Autosomal recessive inheritance","","","","","moderate evidence (08/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_336745e2-39bc-429c-8b0d-fd73216522a5-2021-08-17T160000.000Z","Antibody Deficiencies GCEP","","",""
"UPB1","HGNC:16297","https://search.clinicalgenome.org/kb/genes/HGNC:16297","beta-ureidopropionase deficiency","MONDO:0013164","https://search.clinicalgenome.org/kb/conditions/MONDO:0013164","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16297","Dosage Working Group","","","","","",""
"UPF3B","HGNC:20439","https://search.clinicalgenome.org/kb/genes/HGNC:20439","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/09/2021)","0 - No Evidence for Triplosensitivity (02/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20439","Dosage Working Group","definitive evidence (07/02/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a1caf030-ef58-4f8f-ba40-aabbf81cf6b1-2019-07-02T220000.000Z","Intellectual Disability and Autism","","",""
"UPF3B","HGNC:20439","https://search.clinicalgenome.org/kb/genes/HGNC:20439","syndromic X-linked intellectual disability 14","MONDO:0010398","https://search.clinicalgenome.org/kb/conditions/MONDO:0010398","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/09/2021)","0 - No Evidence for Triplosensitivity (02/09/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20439","Dosage Working Group","","","","","",""
"UPK3A","HGNC:12580","https://search.clinicalgenome.org/kb/genes/HGNC:12580","congenital anomaly of kidney and urinary tract","MONDO:0019719","https://search.clinicalgenome.org/kb/conditions/MONDO:0019719","Autosomal dominant inheritance","","","","","disputing (01/09/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_825a0eca-b652-43f4-a258-98cdd32751df-2023-01-09T170000.000Z","Congenital Anomalies of the Kidney and Urinary Tract","","",""
"UQCRC2","HGNC:12586","https://search.clinicalgenome.org/kb/genes/HGNC:12586","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","moderate evidence (01/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_82ab14de-02cb-477a-89dd-20210c103ead-2022-01-20T170000.000Z","Mitochondrial Diseases","","",""
"UQCRQ","HGNC:29594","https://search.clinicalgenome.org/kb/genes/HGNC:29594","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (10/16/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bf205a2-6eb3-40aa-b3dd-54c19ce6e6f7-2019-10-16T144656.909Z","Mitochondrial Diseases","","",""
"UROC1","HGNC:26444","https://search.clinicalgenome.org/kb/genes/HGNC:26444","urocanic aciduria","MONDO:0010167","https://search.clinicalgenome.org/kb/conditions/MONDO:0010167","Autosomal recessive inheritance","","","","","moderate evidence (04/26/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af2ff293-39ce-46b7-af58-01e3685f4334-2024-04-26T160000.000Z","Aminoacidopathy","","",""
"UROD","HGNC:12591","https://search.clinicalgenome.org/kb/genes/HGNC:12591","UROD-related inherited porphyria","MONDO:0100498","https://search.clinicalgenome.org/kb/conditions/MONDO:0100498","Semidominant inheritance","2 - Emerging Evidence for Haploinsufficiency (10/04/2024)","0 - No Evidence for Triplosensitivity (10/04/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12591","Dosage Working Group","definitive evidence (08/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_992eb049-9b4f-4163-bcb0-c7a0656cb93e-2022-08-12T160000.000Z","General Inborn Errors of Metabolism","","",""
"UROS","HGNC:12592","https://search.clinicalgenome.org/kb/genes/HGNC:12592","cutaneous porphyria","MONDO:0009902","https://search.clinicalgenome.org/kb/conditions/MONDO:0009902","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12592","Dosage Working Group","definitive evidence (11/02/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9dbf60cb-25ae-44e1-b5aa-598146e63694-2024-11-02T190000.000Z","General Inborn Errors of Metabolism","","",""
"USB1","HGNC:25792","https://search.clinicalgenome.org/kb/genes/HGNC:25792","poikiloderma with neutropenia","MONDO:0011405","https://search.clinicalgenome.org/kb/conditions/MONDO:0011405","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (11/13/2024)","0 - No Evidence for Triplosensitivity (11/13/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25792","Dosage Working Group","","","","","",""
"USH1C","HGNC:12597","https://search.clinicalgenome.org/kb/genes/HGNC:12597","Usher syndrome type 1","MONDO:0010168","https://search.clinicalgenome.org/kb/conditions/MONDO:0010168","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/07/2012)","0 - No Evidence for Triplosensitivity (04/07/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12597","Dosage Working Group","definitive evidence (02/15/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5664","Hearing Loss","","",""
"USH1C","HGNC:12597","https://search.clinicalgenome.org/kb/genes/HGNC:12597","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (04/07/2012)","0 - No Evidence for Triplosensitivity (04/07/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12597","Dosage Working Group","limited evidence (06/11/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f4194490-1b41-4d6d-be63-4a2a8827bb85-2018-06-11T040000.000Z","Hearing Loss","","",""
"USH1C","HGNC:12597","https://search.clinicalgenome.org/kb/genes/HGNC:12597","Usher syndrome type 1C","MONDO:0010171","https://search.clinicalgenome.org/kb/conditions/MONDO:0010171","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (04/07/2012)","0 - No Evidence for Triplosensitivity (04/07/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12597","Dosage Working Group","","","","","",""
"USH1G","HGNC:16356","https://search.clinicalgenome.org/kb/genes/HGNC:16356","Usher syndrome type 1","MONDO:0010168","https://search.clinicalgenome.org/kb/conditions/MONDO:0010168","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16356","Dosage Working Group","definitive evidence (02/15/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5660","Hearing Loss","","",""
"USH1G","HGNC:16356","https://search.clinicalgenome.org/kb/genes/HGNC:16356","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16356","Dosage Working Group","disputing (05/21/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02c62d06-b496-4a48-a514-56a772fae071-2019-05-21T160000.000Z","Hearing Loss","","",""
"USH1G","HGNC:16356","https://search.clinicalgenome.org/kb/genes/HGNC:16356","Usher syndrome type 1G","MONDO:0011748","https://search.clinicalgenome.org/kb/conditions/MONDO:0011748","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16356","Dosage Working Group","","","","","",""
"USH2A","HGNC:12601","https://search.clinicalgenome.org/kb/genes/HGNC:12601","Usher syndrome type 2","MONDO:0016484","https://search.clinicalgenome.org/kb/conditions/MONDO:0016484","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12601","Dosage Working Group","definitive evidence (02/15/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5661","Hearing Loss","","",""
"USH2A","HGNC:12601","https://search.clinicalgenome.org/kb/genes/HGNC:12601","Usher syndrome type 2A","MONDO:0010169","https://search.clinicalgenome.org/kb/conditions/MONDO:0010169","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12601","Dosage Working Group","","","","","",""
"USP25","HGNC:12624","https://search.clinicalgenome.org/kb/genes/HGNC:12624","epilepsy","MONDO:0005027","https://search.clinicalgenome.org/kb/conditions/MONDO:0005027","Autosomal dominant inheritance","","","","","disputing (04/01/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_293a1f2e-c0ee-48b2-bfbb-1e4672a5ba79-2025-04-01T160000.000Z","Epilepsy","","",""
"USP27X","HGNC:13486","https://search.clinicalgenome.org/kb/genes/HGNC:13486","X-linked intellectual disability","MONDO:0100284","https://search.clinicalgenome.org/kb/conditions/MONDO:0100284","X-linked inheritance","","","","","limited evidence (02/01/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f6aeec40-3974-4c03-8ac3-8f0fdd614d41-2023-02-01T190000.000Z","Intellectual Disability and Autism","","",""
"USP34","HGNC:20066","https://search.clinicalgenome.org/kb/genes/HGNC:20066","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (06/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4a75413c-7a13-4511-895b-64ca7decc25e-2024-06-10T160000.000Z","Congenital Heart Disease","","",""
"USP44","HGNC:20064","https://search.clinicalgenome.org/kb/genes/HGNC:20064","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (10/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e8a9135-a29a-4bff-be2b-84c01e104021-2024-10-15T160000.000Z","Congenital Heart Disease","","",""
"USP7","HGNC:12630","https://search.clinicalgenome.org/kb/genes/HGNC:12630","Hao-Fountain syndrome","MONDO:0014805","https://search.clinicalgenome.org/kb/conditions/MONDO:0014805","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/22/2024)","0 - No Evidence for Triplosensitivity (04/22/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12630","Dosage Working Group","definitive evidence (09/03/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7e4961fa-f972-4e82-ac29-a511ff954529-2021-09-03T182145.545Z","Syndromic Disorders","","",""
"USP9X","HGNC:12632","https://search.clinicalgenome.org/kb/genes/HGNC:12632","X-linked syndromic intellectual disability","MONDO:0020119","https://search.clinicalgenome.org/kb/conditions/MONDO:0020119","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/27/2024)","0 - No Evidence for Triplosensitivity (11/27/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12632","Dosage Working Group","definitive evidence (11/17/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd411e83-8373-44b7-8ad5-00894c873880-2021-11-17T180000.000Z","Intellectual Disability and Autism","","",""
"UVSSA","HGNC:29304","https://search.clinicalgenome.org/kb/genes/HGNC:29304","UV-sensitive syndrome 3","MONDO:0013834","https://search.clinicalgenome.org/kb/conditions/MONDO:0013834","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29304","Dosage Working Group","","","","","",""
"VAPB","HGNC:12649","https://search.clinicalgenome.org/kb/genes/HGNC:12649","amyotrophic lateral sclerosis type 8","MONDO:0012077","https://search.clinicalgenome.org/kb/conditions/MONDO:0012077","Autosomal dominant inheritance","","","","","definitive evidence (12/15/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da78d57d-1525-47b3-a649-743186d28eff-2021-12-15T183034.352Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"VARS1","HGNC:12651","https://search.clinicalgenome.org/kb/genes/HGNC:12651","neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy","MONDO:0060621","https://search.clinicalgenome.org/kb/conditions/MONDO:0060621","Autosomal recessive inheritance","","","","","definitive evidence (12/06/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a8f282f2-3313-44b8-a0f8-b3f52374a11a-2023-12-06T170000.000Z","Syndromic Disorders","","",""
"VARS2","HGNC:21642","https://search.clinicalgenome.org/kb/genes/HGNC:21642","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (05/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ca9dc1e7-f79c-472e-b6ea-5d38aaf61bea-2022-05-19T160000.000Z","Mitochondrial Diseases","","",""
"VCAN","HGNC:2464","https://search.clinicalgenome.org/kb/genes/HGNC:2464","Wagner disease","MONDO:0007740","https://search.clinicalgenome.org/kb/conditions/MONDO:0007740","Autosomal dominant inheritance","","","","","definitive evidence (07/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d1ea2623-463f-40f1-befb-5dfde7abc784-2021-07-26T183919.943Z","Retina","","",""
"VCL","HGNC:12665","https://search.clinicalgenome.org/kb/genes/HGNC:12665","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","strong evidence (08/09/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2d46699a-5f8c-460d-9233-bec4e2ecf560-2024-08-09T160000.000Z","Dilated Cardiomyopathy","","",""
"VCL","HGNC:12665","https://search.clinicalgenome.org/kb/genes/HGNC:12665","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","","","","","disputing (05/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_27365fd2-1203-4e2b-8830-3277e965d8bc-2023-05-10T160000.000Z","Hereditary Cardiovascular Disease","","",""
"VCP","HGNC:12666","https://search.clinicalgenome.org/kb/genes/HGNC:12666","inclusion body myopathy with Paget disease of bone and frontotemporal dementia","MONDO:0000507","https://search.clinicalgenome.org/kb/conditions/MONDO:0000507","Autosomal dominant inheritance","","","","","definitive evidence (12/23/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6ea2bc4d-3b58-4b59-a5bc-9d8a96c452cb-2021-12-23T223510.433Z","Amyotrophic Lateral Sclerosis Spectrum Disorders","","",""
"VEGFA","HGNC:12680","https://search.clinicalgenome.org/kb/genes/HGNC:12680","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (08/23/2023)","0 - No Evidence for Triplosensitivity (08/23/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12680","Dosage Working Group","limited evidence (05/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bd2d1e9f-ef0b-4294-8f70-2ed0ab594332-2024-05-07T160000.000Z","Congenital Heart Disease","","",""
"VEZF1","HGNC:12949","https://search.clinicalgenome.org/kb/genes/HGNC:12949","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","no known disease relationship (01/10/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17572620-69e6-4e55-9d4f-bc4ff78f452b-2025-01-10T170000.000Z","Dilated Cardiomyopathy","","",""
"VHL","HGNC:12687","https://search.clinicalgenome.org/kb/genes/HGNC:12687","von Hippel-Lindau disease","MONDO:0008667","https://search.clinicalgenome.org/kb/conditions/MONDO:0008667","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (05/11/2022)","0 - No Evidence for Triplosensitivity (05/11/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12687","Dosage Working Group","definitive evidence (05/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30c04ced-b74d-465a-8d7d-eb822109b7f1-2020-05-14T004116.004Z","Hereditary Cancer","Strong Actionability (01/04/2022) | Moderate Actionability (01/04/2022)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC027"," | "
"VIPAS39","HGNC:20347","https://search.clinicalgenome.org/kb/genes/HGNC:20347","arthrogryposis, renal dysfunction, and cholestasis 2","MONDO:0013255","https://search.clinicalgenome.org/kb/conditions/MONDO:0013255","Autosomal recessive inheritance","","","","","definitive evidence (12/16/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b87d2443-a34d-41b1-8712-bcd346e3cf52-2020-12-16T170000.000Z","Hemostasis Thrombosis","","",""
"VKORC1","HGNC:23663","https://search.clinicalgenome.org/kb/genes/HGNC:23663","vitamin K-dependent clotting factors, combined deficiency of, type 2","MONDO:0011837","https://search.clinicalgenome.org/kb/conditions/MONDO:0011837","Autosomal recessive inheritance","","","","","moderate evidence (09/03/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_84145ffe-9835-4a3a-a2ae-6d0c6bd34007-2025-09-03T160000.000Z","Hemostasis Thrombosis","","",""
"VLDLR","HGNC:12698","https://search.clinicalgenome.org/kb/genes/HGNC:12698","cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1","MONDO:0024542","https://search.clinicalgenome.org/kb/conditions/MONDO:0024542","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12698","Dosage Working Group","definitive evidence (06/13/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6dace100-8e75-4da9-a893-4a694d031a7b-2023-06-13T160000.000Z","Brain Malformations","","",""
"VMA22","HGNC:28178","https://search.clinicalgenome.org/kb/genes/HGNC:28178","CCDC115-CDG","MONDO:0014789","https://search.clinicalgenome.org/kb/conditions/MONDO:0014789","Autosomal recessive inheritance","","","","","moderate evidence (09/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a15c4c38-77c7-4bad-95f8-b2d2a163d05a-2024-09-04T160000.000Z","Congenital Disorders of Glycosylation","","",""
"VPS11","HGNC:14583","https://search.clinicalgenome.org/kb/genes/HGNC:14583","VPS11-related neurological disorder","MONDO:0100617","https://search.clinicalgenome.org/kb/conditions/MONDO:0100617","Autosomal recessive inheritance","","","","","definitive evidence (04/22/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d7f8aa3e-b2c0-4607-8ceb-a5585cff29ea-2025-04-22T160000.000Z","Leukodystrophy and Leukoencephalopathy","","",""
"VPS13A","HGNC:1908","https://search.clinicalgenome.org/kb/genes/HGNC:1908","chorea-acanthocytosis","MONDO:0008695","https://search.clinicalgenome.org/kb/conditions/MONDO:0008695","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1908","Dosage Working Group","","","","","",""
"VPS13B","HGNC:2183","https://search.clinicalgenome.org/kb/genes/HGNC:2183","Cohen syndrome","MONDO:0008999","https://search.clinicalgenome.org/kb/conditions/MONDO:0008999","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/26/2013)","0 - No Evidence for Triplosensitivity (06/26/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2183","Dosage Working Group","definitive evidence (08/15/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccfc68bc-9f00-4565-b2c7-70ad9f8e2002-2018-08-15T100000.000Z","Intellectual Disability and Autism","","",""
"VPS13C","HGNC:23594","https://search.clinicalgenome.org/kb/genes/HGNC:23594","young-onset Parkinson disease","MONDO:0017279","https://search.clinicalgenome.org/kb/conditions/MONDO:0017279","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"VPS13C","HGNC:23594","https://search.clinicalgenome.org/kb/genes/HGNC:23594","autosomal recessive early-onset Parkinson disease 23","MONDO:0014796","https://search.clinicalgenome.org/kb/conditions/MONDO:0014796","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"VPS13C","HGNC:23594","https://search.clinicalgenome.org/kb/genes/HGNC:23594","Parkinson disease","MONDO:0005180","https://search.clinicalgenome.org/kb/conditions/MONDO:0005180","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"VPS13D","HGNC:23595","https://search.clinicalgenome.org/kb/genes/HGNC:23595","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (06/14/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7f179add-fcdb-4ea0-bc3c-506f825d2dac-2021-06-14T143234.435Z","Mitochondrial Diseases","","",""
"VPS33A","HGNC:18179","https://search.clinicalgenome.org/kb/genes/HGNC:18179","mucopolysaccharidosis-plus syndrome","MONDO:0015012","https://search.clinicalgenome.org/kb/conditions/MONDO:0015012","Autosomal recessive inheritance","","","","","moderate evidence (10/03/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70662e64-a50a-49d1-aaac-46429d840062-2023-10-03T160000.000Z","Lysosomal Diseases GCEP","","",""
"VPS33B","HGNC:12712","https://search.clinicalgenome.org/kb/genes/HGNC:12712","arthrogryposis, renal dysfunction, and cholestasis 1","MONDO:0008822","https://search.clinicalgenome.org/kb/conditions/MONDO:0008822","Autosomal recessive inheritance","","","","","definitive evidence (03/24/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d38d685c-9aee-4660-9228-4119a4fd583d-2021-03-24T160534.056Z","Hemostasis Thrombosis","","",""
"VPS35","HGNC:13487","https://search.clinicalgenome.org/kb/genes/HGNC:13487","Parkinson disease","MONDO:0005180","https://search.clinicalgenome.org/kb/conditions/MONDO:0005180","Autosomal dominant inheritance","","","","","definitive evidence (11/03/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b0e546d6-8a44-4e9d-83aa-f781ec4ec166-2021-11-03T134517.796Z","Parkinson's Disease","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"VPS35","HGNC:13487","https://search.clinicalgenome.org/kb/genes/HGNC:13487","late-onset Parkinson disease","MONDO:0008199","https://search.clinicalgenome.org/kb/conditions/MONDO:0008199","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"VPS35","HGNC:13487","https://search.clinicalgenome.org/kb/genes/HGNC:13487","obsolete hereditary late onset Parkinson disease","MONDO:0018466","https://search.clinicalgenome.org/kb/conditions/MONDO:0018466","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"VPS35","HGNC:13487","https://search.clinicalgenome.org/kb/genes/HGNC:13487","Parkinson disease 17","MONDO:0013625","https://search.clinicalgenome.org/kb/conditions/MONDO:0013625","N/A","","","","","","","","Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021) | Has Insufficient Evidence for Actionability Based on Early Rule-out (06/21/2021)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC1027 | https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1027"," | "
"VPS37A","HGNC:24928","https://search.clinicalgenome.org/kb/genes/HGNC:24928","complex hereditary spastic paraplegia","MONDO:0015150","https://search.clinicalgenome.org/kb/conditions/MONDO:0015150","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24928","Dosage Working Group","limited evidence (03/06/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14dcdd9d-bd32-49ff-ab29-fa7b79baf463-2025-03-06T170000.000Z","Cerebral Palsy","","",""
"VPS37A","HGNC:24928","https://search.clinicalgenome.org/kb/genes/HGNC:24928","hereditary spastic paraplegia 53","MONDO:0013962","https://search.clinicalgenome.org/kb/conditions/MONDO:0013962","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24928","Dosage Working Group","","","","","",""
"VPS53","HGNC:25608","https://search.clinicalgenome.org/kb/genes/HGNC:25608","pontocerebellar hypoplasia type 2E","MONDO:0014370","https://search.clinicalgenome.org/kb/conditions/MONDO:0014370","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25608","Dosage Working Group","","","","","",""
"VPS8","HGNC:29122","https://search.clinicalgenome.org/kb/genes/HGNC:29122","arthrogryposis multiplex congenita","MONDO:0015168","https://search.clinicalgenome.org/kb/conditions/MONDO:0015168","Autosomal recessive inheritance","","","","","limited evidence (11/24/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_5463","General Gene Curation","","",""
"VWF","HGNC:12726","https://search.clinicalgenome.org/kb/genes/HGNC:12726","von Willebrand disease type 2B","MONDO:0015629","https://search.clinicalgenome.org/kb/conditions/MONDO:0015629","Autosomal dominant inheritance","","","","","definitive evidence (09/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ecfe8bc1-5a4b-4d41-80d1-217af5b5b77f-2020-09-23T160000.000Z","Hemostasis Thrombosis","","",""
"VWF","HGNC:12726","https://search.clinicalgenome.org/kb/genes/HGNC:12726","hereditary von Willebrand disease","MONDO:0019565","https://search.clinicalgenome.org/kb/conditions/MONDO:0019565","Autosomal dominant inheritance","","","","","definitive evidence (09/23/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4899c76e-7d5e-4b00-a47f-7e1f1b0ba664-2020-09-23T160000.000Z","Hemostasis Thrombosis","","",""
"VWF","HGNC:12726","https://search.clinicalgenome.org/kb/genes/HGNC:12726","von Willebrand disease 1","MONDO:0008668","https://search.clinicalgenome.org/kb/conditions/MONDO:0008668","N/A","","","","","","","","Assertion Pending (07/10/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC144",""
"VWF","HGNC:12726","https://search.clinicalgenome.org/kb/genes/HGNC:12726","von Willebrand disease 2","MONDO:0013304","https://search.clinicalgenome.org/kb/conditions/MONDO:0013304","N/A","","","","","","","","Assertion Pending (07/10/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC144",""
"VWF","HGNC:12726","https://search.clinicalgenome.org/kb/genes/HGNC:12726","von Willebrand disease 3","MONDO:0010191","https://search.clinicalgenome.org/kb/conditions/MONDO:0010191","N/A","","","","","","","","Assertion Pending (07/10/2017)","https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC144",""
"WAC","HGNC:17327","https://search.clinicalgenome.org/kb/genes/HGNC:17327","DeSanto-Shinawi syndrome","MONDO:0018760","https://search.clinicalgenome.org/kb/conditions/MONDO:0018760","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/28/2018)","0 - No Evidence for Triplosensitivity (02/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17327","Dosage Working Group","definitive evidence (11/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6a1f3c78-d7d2-4a8c-8dbf-ddda78769bd7-2022-11-10T170000.000Z","Intellectual Disability and Autism","","",""
"WARS1","HGNC:12729","https://search.clinicalgenome.org/kb/genes/HGNC:12729","distal hereditary motor neuropathy","MONDO:0018894","https://search.clinicalgenome.org/kb/conditions/MONDO:0018894","Autosomal dominant inheritance","","","","","limited evidence (02/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93643521-0988-4c4b-b458-988044cfad6f-2022-02-10T020458.490Z","Charcot-Marie-Tooth","","",""
"WARS2","HGNC:12730","https://search.clinicalgenome.org/kb/genes/HGNC:12730","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","definitive evidence (06/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3fae4b08-08dc-42da-86a0-2d63ad202ef0-2022-06-16T160000.000Z","Mitochondrial Diseases","","",""
"WAS","HGNC:12731","https://search.clinicalgenome.org/kb/genes/HGNC:12731","Wiskott-Aldrich syndrome","MONDO:0010518","https://search.clinicalgenome.org/kb/conditions/MONDO:0010518","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/09/2025)","0 - No Evidence for Triplosensitivity (10/09/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12731","Dosage Working Group","definitive evidence (10/12/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a936b3ba-f1d0-4f14-bd56-14f64ad4de3a-2018-10-12T205425.459Z","Hereditary Cancer","Moderate Actionability (11/16/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC011",""
"WAS","HGNC:12731","https://search.clinicalgenome.org/kb/genes/HGNC:12731","X-linked severe congenital neutropenia","MONDO:0010294","https://search.clinicalgenome.org/kb/conditions/MONDO:0010294","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/09/2025)","0 - No Evidence for Triplosensitivity (10/09/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12731","Dosage Working Group","definitive evidence (11/18/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_49c66050-ab36-4359-8d78-b7ba5bef80d2-2021-11-18T171012.085Z","SCID-CID","Moderate Actionability (11/16/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC011",""
"WAS","HGNC:12731","https://search.clinicalgenome.org/kb/genes/HGNC:12731","thrombocytopenia 1","MONDO:0010743","https://search.clinicalgenome.org/kb/conditions/MONDO:0010743","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/09/2025)","0 - No Evidence for Triplosensitivity (10/09/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12731","Dosage Working Group","","","","Moderate Actionability (11/16/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC011",""
"WASHC5","HGNC:28984","https://search.clinicalgenome.org/kb/genes/HGNC:28984","Ritscher-Schinzel syndrome 1","MONDO:0009073","https://search.clinicalgenome.org/kb/conditions/MONDO:0009073","Autosomal recessive inheritance","","","","","limited evidence (04/04/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9920b2c1-29bd-42db-be54-b9757f7c4f6b-2025-04-04T160000.000Z","Syndromic Disorders","","",""
"WASHC5","HGNC:28984","https://search.clinicalgenome.org/kb/genes/HGNC:28984","hereditary spastic paraplegia 8","MONDO:0011339","https://search.clinicalgenome.org/kb/conditions/MONDO:0011339","Autosomal dominant inheritance","","","","","moderate evidence (09/30/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_26ef81c5-17e8-4d87-b7ee-627f3f083955-2024-09-30T160000.000Z","Syndromic Disorders","","",""
"WBP2","HGNC:12738","https://search.clinicalgenome.org/kb/genes/HGNC:12738","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","Autosomal recessive inheritance","","","","","limited evidence (12/09/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_baa7931c-1d6a-4260-9816-fbca764c5a0e-2018-12-09T170000.000Z","Hearing Loss","","",""
"WDFY3","HGNC:20751","https://search.clinicalgenome.org/kb/genes/HGNC:20751","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/10/2023)","0 - No Evidence for Triplosensitivity (10/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20751","Dosage Working Group","definitive evidence (01/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a9300a41-dcac-4842-855d-01804e18d599-2022-01-19T170000.000Z","Intellectual Disability and Autism","","",""
"WDFY3","HGNC:20751","https://search.clinicalgenome.org/kb/genes/HGNC:20751","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","3 - Sufficient Evidence for Haploinsufficiency (10/10/2023)","0 - No Evidence for Triplosensitivity (10/10/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20751","Dosage Working Group","","","","","",""
"WDPCP","HGNC:28027","https://search.clinicalgenome.org/kb/genes/HGNC:28027","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28027","Dosage Working Group","definitive evidence (03/07/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2569ec01-fad8-47ee-ba7b-4ad4fb534c9a-2024-03-07T170000.000Z","Retina","","",""
"WDPCP","HGNC:28027","https://search.clinicalgenome.org/kb/genes/HGNC:28027","heart defect - tongue hamartoma - polysyndactyly syndrome","MONDO:0009008","https://search.clinicalgenome.org/kb/conditions/MONDO:0009008","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28027","Dosage Working Group","","","","","",""
"WDR19","HGNC:18340","https://search.clinicalgenome.org/kb/genes/HGNC:18340","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","definitive evidence (05/25/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_418a6e41-45ad-411f-a40d-2f7cb61ff589-2022-05-25T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"WDR26","HGNC:21208","https://search.clinicalgenome.org/kb/genes/HGNC:21208","Skraban-Deardorff syndrome","MONDO:0054636","https://search.clinicalgenome.org/kb/conditions/MONDO:0054636","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/27/2022)","0 - No Evidence for Triplosensitivity (04/27/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21208","Dosage Working Group","definitive evidence (07/19/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb1cc149-1bbe-48be-9518-03d9f3e83148-2023-07-19T060000.000Z","Intellectual Disability and Autism","","",""
"WDR35","HGNC:29250","https://search.clinicalgenome.org/kb/genes/HGNC:29250","cranioectodermal dysplasia 2","MONDO:0013323","https://search.clinicalgenome.org/kb/conditions/MONDO:0013323","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/19/2013)","0 - No Evidence for Triplosensitivity (06/19/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29250","Dosage Working Group","definitive evidence (07/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7e56d33-315b-40a0-9ec5-0a99e12cf369-2021-07-27T160000.000Z","Syndromic Disorders","","",""
"WDR35","HGNC:29250","https://search.clinicalgenome.org/kb/genes/HGNC:29250","short-rib thoracic dysplasia 7 with or without polydactyly","MONDO:0013569","https://search.clinicalgenome.org/kb/conditions/MONDO:0013569","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/19/2013)","0 - No Evidence for Triplosensitivity (06/19/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29250","Dosage Working Group","definitive evidence (02/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e3f8578-6df2-4503-9e38-c110a9f00924-2022-02-23T170000.000Z","Syndromic Disorders","","",""
"WDR36","HGNC:30696","https://search.clinicalgenome.org/kb/genes/HGNC:30696","obsolete glaucoma 1, open angle, G","MONDO:0012357","https://search.clinicalgenome.org/kb/conditions/MONDO:0012357","Autosomal dominant inheritance","","","","","disputing (08/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_173858d9-f695-470f-b8b0-22940c60c074-2022-08-18T160000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"WDR37","HGNC:31406","https://search.clinicalgenome.org/kb/genes/HGNC:31406","neurooculocardiogenitourinary syndrome","MONDO:0032850","https://search.clinicalgenome.org/kb/conditions/MONDO:0032850","Autosomal dominant inheritance","","","","","definitive evidence (10/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3eaff9e-978b-47a6-ad55-88edabc62064-2024-10-18T160000.000Z","Syndromic Disorders","","",""
"WDR45","HGNC:28912","https://search.clinicalgenome.org/kb/genes/HGNC:28912","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/09/2015)","0 - No Evidence for Triplosensitivity (04/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28912","Dosage Working Group","definitive evidence (06/28/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_85a54036-4d36-414d-8d26-944b9763a039-2019-06-28T160000.000Z","Epilepsy","","",""
"WDR45","HGNC:28912","https://search.clinicalgenome.org/kb/genes/HGNC:28912","neurodegeneration with brain iron accumulation 5","MONDO:0010476","https://search.clinicalgenome.org/kb/conditions/MONDO:0010476","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/09/2015)","0 - No Evidence for Triplosensitivity (04/09/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28912","Dosage Working Group","","","","","",""
"WDR5","HGNC:12757","https://search.clinicalgenome.org/kb/genes/HGNC:12757","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (07/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1987d75-7cdc-4d6f-9d71-f00b3bedf7c3-2024-07-08T160000.000Z","Congenital Heart Disease","","",""
"WDR62","HGNC:24502","https://search.clinicalgenome.org/kb/genes/HGNC:24502","microcephaly 2, primary, autosomal recessive, with or without cortical malformations","MONDO:0011435","https://search.clinicalgenome.org/kb/conditions/MONDO:0011435","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24502","Dosage Working Group","definitive evidence (05/26/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bdbcb9de-2ded-46a0-a6d0-16b34ea22008-2020-05-26T160000.000Z","Brain Malformations","","",""
"WDR72","HGNC:26790","https://search.clinicalgenome.org/kb/genes/HGNC:26790","amelogenesis imperfecta","MONDO:0019507","https://search.clinicalgenome.org/kb/conditions/MONDO:0019507","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26790","Dosage Working Group","definitive evidence (12/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af7fe285-29ab-4f6c-bba1-a582d03972af-2021-12-16T013000.000Z","Tubulopathy","","",""
"WDR72","HGNC:26790","https://search.clinicalgenome.org/kb/genes/HGNC:26790","amelogenesis imperfecta hypomaturation type 2A3","MONDO:0013181","https://search.clinicalgenome.org/kb/conditions/MONDO:0013181","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26790","Dosage Working Group","","","","","",""
"WFS1","HGNC:12762","https://search.clinicalgenome.org/kb/genes/HGNC:12762","Wolfram-like syndrome","MONDO:0013673","https://search.clinicalgenome.org/kb/conditions/MONDO:0013673","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (02/08/2012)","0 - No Evidence for Triplosensitivity (02/08/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12762","Dosage Working Group","definitive evidence (06/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_17637c9d-03fb-496a-a00c-ae2431f441e8-2024-06-25T160000.000Z","Hearing Loss","","",""
"WFS1","HGNC:12762","https://search.clinicalgenome.org/kb/genes/HGNC:12762","Wolfram syndrome","MONDO:0018105","https://search.clinicalgenome.org/kb/conditions/MONDO:0018105","Autosomal recessive inheritance","0 - No Evidence for Haploinsufficiency (02/08/2012)","0 - No Evidence for Triplosensitivity (02/08/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12762","Dosage Working Group","definitive evidence (04/17/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1e81eeda-4dd0-431c-ad52-90304fb761c8-2018-04-17T160000.000Z","Hearing Loss","","",""
"WFS1","HGNC:12762","https://search.clinicalgenome.org/kb/genes/HGNC:12762","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (02/08/2012)","0 - No Evidence for Triplosensitivity (02/08/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12762","Dosage Working Group","definitive evidence (06/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e7e402fa-b5b4-4b97-a3e1-ff4640c9bd5a-2024-06-25T160000.000Z","Hearing Loss","","",""
"WHRN","HGNC:16361","https://search.clinicalgenome.org/kb/genes/HGNC:16361","Usher syndrome type 2D","MONDO:0012662","https://search.clinicalgenome.org/kb/conditions/MONDO:0012662","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16361","Dosage Working Group","definitive evidence (05/10/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8151","Hearing Loss","","",""
"WHRN","HGNC:16361","https://search.clinicalgenome.org/kb/genes/HGNC:16361","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16361","Dosage Working Group","moderate evidence (01/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3188ec93-954a-4daa-b99d-7c5fccad8e1a-2024-01-17T170000.000Z","Hearing Loss","","",""
"WHRN","HGNC:16361","https://search.clinicalgenome.org/kb/genes/HGNC:16361","autosomal recessive nonsyndromic hearing loss 31","MONDO:0011767","https://search.clinicalgenome.org/kb/conditions/MONDO:0011767","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16361","Dosage Working Group","","","","","",""
"WIPF1","HGNC:12736","https://search.clinicalgenome.org/kb/genes/HGNC:12736","Wiskott-Aldrich syndrome 2","MONDO:0013779","https://search.clinicalgenome.org/kb/conditions/MONDO:0013779","Autosomal recessive inheritance","","","","","definitive evidence (04/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_93bc67d5-b9f8-4eab-8f8a-cdc10595be30-2023-04-10T170000.000Z","SCID-CID","","",""
"WNK1","HGNC:14540","https://search.clinicalgenome.org/kb/genes/HGNC:14540","neuropathy, hereditary sensory and autonomic, type 2A","MONDO:0024309","https://search.clinicalgenome.org/kb/conditions/MONDO:0024309","Autosomal recessive inheritance","","","","","definitive evidence (05/05/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_28b83a4d-4a0f-4617-bc11-1effb9efe719-2023-05-05T160000.000Z","Charcot-Marie-Tooth","","",""
"WNT10A","HGNC:13829","https://search.clinicalgenome.org/kb/genes/HGNC:13829","ectodermal dysplasia WNT10A related","MONDO:0100358","https://search.clinicalgenome.org/kb/conditions/MONDO:0100358","Semidominant inheritance","","","","","definitive evidence (05/21/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2a537f1-f04c-4e08-9cca-80122e36f51a-2022-05-21T025524.674Z","Syndromic Disorders","","",""
"WNT5A","HGNC:12784","https://search.clinicalgenome.org/kb/genes/HGNC:12784","autosomal dominant Robinow syndrome","MONDO:0008389","https://search.clinicalgenome.org/kb/conditions/MONDO:0008389","Autosomal dominant inheritance","","","","","moderate evidence (04/25/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0fb2940f-f0e0-442c-beb8-72fc959d5a43-2024-04-25T160000.000Z","Syndromic Disorders","","",""
"WNT7A","HGNC:12786","https://search.clinicalgenome.org/kb/genes/HGNC:12786","non-syndromic limb reduction defect","MONDO:0019713","https://search.clinicalgenome.org/kb/conditions/MONDO:0019713","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12786","Dosage Working Group","","","","","",""
"WRAP53","HGNC:25522","https://search.clinicalgenome.org/kb/genes/HGNC:25522","dyskeratosis congenita","MONDO:0015780","https://search.clinicalgenome.org/kb/conditions/MONDO:0015780","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (12/15/2017)","0 - No Evidence for Triplosensitivity (12/15/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25522","Dosage Working Group","moderate evidence (01/25/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_3207","General Gene Curation","","",""
"WRAP53","HGNC:25522","https://search.clinicalgenome.org/kb/genes/HGNC:25522","telomere syndrome","MONDO:0100137","https://search.clinicalgenome.org/kb/conditions/MONDO:0100137","Semidominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (12/15/2017)","0 - No Evidence for Triplosensitivity (12/15/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25522","Dosage Working Group","moderate evidence (06/17/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8eb8438d-47db-4263-9ad6-fdabfcffc7a9-2025-06-17T160000.000Z","Interstitial Lung Disease","","",""
"WRAP53","HGNC:25522","https://search.clinicalgenome.org/kb/genes/HGNC:25522","dyskeratosis congenita, autosomal recessive 3","MONDO:0013520","https://search.clinicalgenome.org/kb/conditions/MONDO:0013520","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (12/15/2017)","0 - No Evidence for Triplosensitivity (12/15/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25522","Dosage Working Group","","","","","",""
"WRN","HGNC:12791","https://search.clinicalgenome.org/kb/genes/HGNC:12791","Werner syndrome","MONDO:0010196","https://search.clinicalgenome.org/kb/conditions/MONDO:0010196","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (10/04/2024)","0 - No Evidence for Triplosensitivity (10/04/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12791","Dosage Working Group","definitive evidence (10/09/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9c04f29-bc94-40c5-95d7-d25d21cd387f-2018-10-09T170000.000Z","Hereditary Cancer","","",""
"WT1","HGNC:12796","https://search.clinicalgenome.org/kb/genes/HGNC:12796","Wilms tumor 1","MONDO:0008679","https://search.clinicalgenome.org/kb/conditions/MONDO:0008679","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/25/2022)","0 - No Evidence for Triplosensitivity (01/25/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12796","Dosage Working Group","definitive evidence (07/30/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_65010002-ff97-4dc0-a89f-6c77abf0982a-2020-07-30T205501.047Z","Hereditary Cancer","Moderate Actionability (05/17/2018)","https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC003",""
"WT1","HGNC:12796","https://search.clinicalgenome.org/kb/genes/HGNC:12796","Denys-Drash syndrome","MONDO:0008682","https://search.clinicalgenome.org/kb/conditions/MONDO:0008682","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/25/2022)","0 - No Evidence for Triplosensitivity (01/25/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12796","Dosage Working Group","definitive evidence (07/27/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cccc7a42-a49c-4a8d-8b9e-f16b81e9ee07-2021-07-27T210557.993Z","Hereditary Cancer","","",""
"WWOX","HGNC:12799","https://search.clinicalgenome.org/kb/genes/HGNC:12799","genetic developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/08/2017)","0 - No Evidence for Triplosensitivity (11/08/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12799","Dosage Working Group","definitive evidence (08/03/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9da233ef-bf3b-43c5-b82c-c7a6ea4dd5a6-2021-08-03T040000.000Z","Epilepsy","","",""
"WWOX","HGNC:12799","https://search.clinicalgenome.org/kb/genes/HGNC:12799","autosomal recessive spinocerebellar ataxia 12","MONDO:0013687","https://search.clinicalgenome.org/kb/conditions/MONDO:0013687","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (11/08/2017)","0 - No Evidence for Triplosensitivity (11/08/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12799","Dosage Working Group","","","","","",""
"XDH","HGNC:12805","https://search.clinicalgenome.org/kb/genes/HGNC:12805","xanthinuria type I","MONDO:0010209","https://search.clinicalgenome.org/kb/conditions/MONDO:0010209","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12805","Dosage Working Group","","","","","",""
"XIAP","HGNC:592","https://search.clinicalgenome.org/kb/genes/HGNC:592","X-linked lymphoproliferative disease due to XIAP deficiency","MONDO:0010385","https://search.clinicalgenome.org/kb/conditions/MONDO:0010385","N/A","3 - Sufficient Evidence for Haploinsufficiency (07/27/2022)","0 - No Evidence for Triplosensitivity (07/27/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:592","Dosage Working Group","","","","","",""
"XIST","HGNC:12810","https://search.clinicalgenome.org/kb/genes/HGNC:12810","X inactivation, familial skewed, 1","MONDO:0026404","https://search.clinicalgenome.org/kb/conditions/MONDO:0026404","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/22/2020)","0 - No Evidence for Triplosensitivity (04/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12810","Dosage Working Group","","","","","",""
"XPA","HGNC:12814","https://search.clinicalgenome.org/kb/genes/HGNC:12814","xeroderma pigmentosum group A","MONDO:0010210","https://search.clinicalgenome.org/kb/conditions/MONDO:0010210","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/14/2024)","0 - No Evidence for Triplosensitivity (02/14/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12814","Dosage Working Group","definitive evidence (11/02/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cd298eb-1e1a-4283-851e-2dd24059ba22-2018-11-02T213651.734Z","Hereditary Cancer","","",""
"XPC","HGNC:12816","https://search.clinicalgenome.org/kb/genes/HGNC:12816","xeroderma pigmentosum group C","MONDO:0010211","https://search.clinicalgenome.org/kb/conditions/MONDO:0010211","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (05/08/2024)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12816","Dosage Working Group","definitive evidence (11/02/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8352d38c-7fb3-4a82-8f8b-7cd08fded1f4-2018-11-02T214221.860Z","Hereditary Cancer","","",""
"XPNPEP3","HGNC:28052","https://search.clinicalgenome.org/kb/genes/HGNC:28052","nephronophthisis-like nephropathy 1","MONDO:0013163","https://search.clinicalgenome.org/kb/conditions/MONDO:0013163","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:28052","Dosage Working Group","definitive evidence (06/10/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1fd65c6-6010-4ee7-bb1c-e347c539127c-2024-06-10T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"XRCC2","HGNC:12829","https://search.clinicalgenome.org/kb/genes/HGNC:12829","familial ovarian cancer","MONDO:0016248","https://search.clinicalgenome.org/kb/conditions/MONDO:0016248","Autosomal dominant inheritance","","","","","no known disease relationship (04/26/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8707","Breast/Ovarian Cancer","","",""
"XRCC2","HGNC:12829","https://search.clinicalgenome.org/kb/genes/HGNC:12829","hereditary breast carcinoma","MONDO:0016419","https://search.clinicalgenome.org/kb/conditions/MONDO:0016419","Autosomal dominant inheritance","","","","","refuting evidence (03/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f7f253e9-bb78-44c5-bab1-6e8017eeb69c-2023-03-14T170000.000Z","Hereditary Cancer","","",""
"XRCC2","HGNC:12829","https://search.clinicalgenome.org/kb/genes/HGNC:12829","Fanconi anemia complementation group U","MONDO:0014987","https://search.clinicalgenome.org/kb/conditions/MONDO:0014987","Autosomal recessive inheritance","","","","","limited evidence (10/27/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c33ed99-86f1-4654-bc88-e8f90191885d-2023-10-27T170000.000Z","Hereditary Cancer","","",""
"XRCC4","HGNC:12831","https://search.clinicalgenome.org/kb/genes/HGNC:12831","hereditary nonpolyposis colon cancer","MONDO:0018630","https://search.clinicalgenome.org/kb/conditions/MONDO:0018630","Autosomal dominant inheritance","","","","","limited evidence (05/08/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9865","Colon Cancer","","",""
"XYLT1","HGNC:15516","https://search.clinicalgenome.org/kb/genes/HGNC:15516","Desbuquois dysplasia 2","MONDO:0014343","https://search.clinicalgenome.org/kb/conditions/MONDO:0014343","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15516","Dosage Working Group","","","","","",""
"YAP1","HGNC:16262","https://search.clinicalgenome.org/kb/genes/HGNC:16262","uveal coloboma-cleft lip and palate-intellectual disability","MONDO:0007355","https://search.clinicalgenome.org/kb/conditions/MONDO:0007355","N/A","1 - Little Evidence for Haploinsufficiency (11/13/2014)","0 - No Evidence for Triplosensitivity (11/13/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16262","Dosage Working Group","","","","","",""
"YARS1","HGNC:12840","https://search.clinicalgenome.org/kb/genes/HGNC:12840","Charcot-Marie-Tooth disease","MONDO:0015626","https://search.clinicalgenome.org/kb/conditions/MONDO:0015626","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/08/2025)","0 - No Evidence for Triplosensitivity (07/08/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12840","Dosage Working Group","definitive evidence (04/28/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9c326f90-be08-4bb3-9593-b2df48f29ca1-2020-04-28T160000.000Z","Charcot-Marie-Tooth","","",""
"YIF1B","HGNC:30511","https://search.clinicalgenome.org/kb/genes/HGNC:30511","Kaya-Barakat-Masson syndrome","MONDO:0030878","https://search.clinicalgenome.org/kb/conditions/MONDO:0030878","Autosomal recessive inheritance","","","","","definitive evidence (08/16/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0891180-c48d-4c14-bbed-920418bb45cf-2024-08-16T160000.000Z","Syndromic Disorders","","",""
"YME1L1","HGNC:12843","https://search.clinicalgenome.org/kb/genes/HGNC:12843","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","","","","","limited evidence (07/15/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b403159f-e5ae-446c-bb17-222dc8eebded-2024-07-15T040000.000Z","Mitochondrial Diseases","","",""
"YME1L1","HGNC:12843","https://search.clinicalgenome.org/kb/genes/HGNC:12843","optic atrophy 11","MONDO:0015011","https://search.clinicalgenome.org/kb/conditions/MONDO:0015011","Autosomal recessive inheritance","","","","","limited evidence (01/16/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a187bfd-89e8-49f1-82a2-b5312960c722-2025-01-16T170000.000Z","Glaucoma and Neuro-Ophthalmology","","",""
"YTHDC1","HGNC:30626","https://search.clinicalgenome.org/kb/genes/HGNC:30626","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (04/24/2019)","0 - No Evidence for Triplosensitivity (04/24/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30626","Dosage Working Group","","","","","",""
"YTHDF3","HGNC:26465","https://search.clinicalgenome.org/kb/genes/HGNC:26465","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","1 - Little Evidence for Haploinsufficiency (04/03/2025)","0 - No Evidence for Triplosensitivity (04/03/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:26465","Dosage Working Group","","","","","",""
"YY1","HGNC:12856","https://search.clinicalgenome.org/kb/genes/HGNC:12856","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (04/01/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_786d6432-d295-4aa7-ae94-99625f0d0ddb-2025-04-01T190000.000Z","Intellectual Disability and Autism","","",""
"ZAP70","HGNC:12858","https://search.clinicalgenome.org/kb/genes/HGNC:12858","combined immunodeficiency due to ZAP70 deficiency","MONDO:0010023","https://search.clinicalgenome.org/kb/conditions/MONDO:0010023","Autosomal recessive inheritance","","","","","definitive evidence (02/08/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_486c47d2-e5a9-4527-a2cc-aaa43cd5c42f-2022-02-08T044813.125Z","SCID-CID","","",""
"ZBTB18","HGNC:13030","https://search.clinicalgenome.org/kb/genes/HGNC:13030","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/24/2019)","0 - No Evidence for Triplosensitivity (04/24/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13030","Dosage Working Group","definitive evidence (12/14/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d8ea518c-64da-4d4f-8551-66a005307e94-2023-12-14T190000.000Z","Intellectual Disability and Autism","","",""
"ZBTB18","HGNC:13030","https://search.clinicalgenome.org/kb/genes/HGNC:13030","intellectual disability, autosomal dominant 22","MONDO:0012869","https://search.clinicalgenome.org/kb/conditions/MONDO:0012869","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/24/2019)","0 - No Evidence for Triplosensitivity (04/24/2019)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13030","Dosage Working Group","","","","","",""
"ZBTB20","HGNC:13503","https://search.clinicalgenome.org/kb/genes/HGNC:13503","Primrose syndrome","MONDO:0009798","https://search.clinicalgenome.org/kb/conditions/MONDO:0009798","Autosomal dominant inheritance","","","","","definitive evidence (04/18/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_84d8ead9-b817-4ee8-a28b-5948efef65ca-2023-04-18T160000.000Z","Intellectual Disability and Autism","","",""
"ZBTB24","HGNC:21143","https://search.clinicalgenome.org/kb/genes/HGNC:21143","immunodeficiency-centromeric instability-facial anomalies syndrome 2","MONDO:0013553","https://search.clinicalgenome.org/kb/conditions/MONDO:0013553","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21143","Dosage Working Group","definitive evidence (07/17/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2bf2f73-198b-43d5-adf6-4a688772715f-2025-07-17T160000.000Z","SCID-CID","","",""
"ZC3H14","HGNC:20509","https://search.clinicalgenome.org/kb/genes/HGNC:20509","intellectual disability","MONDO:0001071","https://search.clinicalgenome.org/kb/conditions/MONDO:0001071","Autosomal recessive inheritance","","","","","limited evidence (11/16/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9bd19228-7668-40f2-8fa3-8bdafe23f1d7-2022-11-16T170000.000Z","Intellectual Disability and Autism","","",""
"ZC4H2","HGNC:24931","https://search.clinicalgenome.org/kb/genes/HGNC:24931","X-linked syndromic intellectual disability","MONDO:0020119","https://search.clinicalgenome.org/kb/conditions/MONDO:0020119","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (04/22/2020)","0 - No Evidence for Triplosensitivity (04/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24931","Dosage Working Group","definitive evidence (10/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_64ba9cd6-bdfd-4b85-9bdd-1b317715230d-2020-10-07T100000.000Z","Intellectual Disability and Autism","","",""
"ZC4H2","HGNC:24931","https://search.clinicalgenome.org/kb/genes/HGNC:24931","Wieacker-Wolff syndrome","MONDO:0010758","https://search.clinicalgenome.org/kb/conditions/MONDO:0010758","N/A","3 - Sufficient Evidence for Haploinsufficiency (04/22/2020)","0 - No Evidence for Triplosensitivity (04/22/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24931","Dosage Working Group","","","","","",""
"ZCCHC8","HGNC:25265","https://search.clinicalgenome.org/kb/genes/HGNC:25265","pulmonary fibrosis and/or bone marrow failure, telomere-related, 5","MONDO:0032865","https://search.clinicalgenome.org/kb/conditions/MONDO:0032865","Autosomal dominant inheritance","","","","","moderate evidence (10/17/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c0a97a49-6f40-4009-9215-2c61901d8087-2024-10-17T190000.000Z","Interstitial Lung Disease","","",""
"ZDHHC15","HGNC:20342","https://search.clinicalgenome.org/kb/genes/HGNC:20342","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","0 - No Evidence for Haploinsufficiency (07/25/2012)","0 - No Evidence for Triplosensitivity (07/25/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20342","Dosage Working Group","disputing (07/30/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a2519945-2acd-4484-9811-487ff5189da9-2021-07-30T160000.000Z","Intellectual Disability and Autism","","",""
"ZDHHC9","HGNC:18475","https://search.clinicalgenome.org/kb/genes/HGNC:18475","syndromic X-linked intellectual disability Raymond type","MONDO:0010427","https://search.clinicalgenome.org/kb/conditions/MONDO:0010427","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (10/12/2021)","0 - No Evidence for Triplosensitivity (10/12/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18475","Dosage Working Group","definitive evidence (05/19/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2156b925-1ee6-4edb-a514-3650aa5b780e-2020-05-19T160000.000Z","Intellectual Disability and Autism","","",""
"ZEB2","HGNC:14881","https://search.clinicalgenome.org/kb/genes/HGNC:14881","Mowat-Wilson syndrome","MONDO:0009341","https://search.clinicalgenome.org/kb/conditions/MONDO:0009341","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (06/24/2020)","0 - No Evidence for Triplosensitivity (06/24/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14881","Dosage Working Group","definitive evidence (05/23/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cb06ff0d-1cc6-494c-9ce5-f7cb26f34620-2018-05-23T100000.000Z","Intellectual Disability and Autism","","",""
"ZFHX4","HGNC:30939","https://search.clinicalgenome.org/kb/genes/HGNC:30939","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","3 - Sufficient Evidence for Haploinsufficiency (09/09/2025)","0 - No Evidence for Triplosensitivity (09/09/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:30939","Dosage Working Group","","","","","",""
"ZFPM1","HGNC:19762","https://search.clinicalgenome.org/kb/genes/HGNC:19762","congenital heart disease","MONDO:0005453","https://search.clinicalgenome.org/kb/conditions/MONDO:0005453","Autosomal dominant inheritance","","","","","limited evidence (07/08/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fcbabd13-b62a-429e-8122-09a4e1d61e3c-2024-07-08T160000.000Z","Congenital Heart Disease","","",""
"ZFPM2","HGNC:16700","https://search.clinicalgenome.org/kb/genes/HGNC:16700","congenital diaphragmatic hernia","MONDO:0005711","https://search.clinicalgenome.org/kb/conditions/MONDO:0005711","N/A","1 - Little Evidence for Haploinsufficiency (09/20/2021)","0 - No Evidence for Triplosensitivity (09/20/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16700","Dosage Working Group","","","","","",""
"ZFX","HGNC:12869","https://search.clinicalgenome.org/kb/genes/HGNC:12869","X-linked syndromic complex neurodevelopmental disorder","MONDO:1040018","https://search.clinicalgenome.org/kb/conditions/MONDO:1040018","X-linked inheritance","","","","","strong evidence (11/20/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fc58b2d5-0452-49e1-8a11-2c1d327fbb96-2024-11-20T170000.000Z","Intellectual Disability and Autism","","",""
"ZFYVE26","HGNC:20761","https://search.clinicalgenome.org/kb/genes/HGNC:20761","hereditary spastic paraplegia 15","MONDO:0010044","https://search.clinicalgenome.org/kb/conditions/MONDO:0010044","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20761","Dosage Working Group","","","","","",""
"ZFYVE27","HGNC:26559","https://search.clinicalgenome.org/kb/genes/HGNC:26559","hereditary spastic paraplegia 33","MONDO:0012448","https://search.clinicalgenome.org/kb/conditions/MONDO:0012448","Autosomal dominant inheritance","","","","","disputing (02/02/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f1339e37-ae1f-4ffe-8f05-fb00729de5ed-2023-02-02T190000.000Z","Cerebral Palsy","","",""
"ZIC1","HGNC:12872","https://search.clinicalgenome.org/kb/genes/HGNC:12872","craniosynostosis 6","MONDO:0014705","https://search.clinicalgenome.org/kb/conditions/MONDO:0014705","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (07/19/2021)","0 - No Evidence for Triplosensitivity (07/19/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12872","Dosage Working Group","definitive evidence (01/18/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e70d90a2-6365-49ac-a21f-599ff5906d88-2024-01-18T170000.000Z","Craniofacial Malformations","","",""
"ZIC2","HGNC:12873","https://search.clinicalgenome.org/kb/genes/HGNC:12873","holoprosencephaly","MONDO:0016296","https://search.clinicalgenome.org/kb/conditions/MONDO:0016296","N/A","3 - Sufficient Evidence for Haploinsufficiency (08/24/2022)","0 - No Evidence for Triplosensitivity (08/24/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12873","Dosage Working Group","","","","","",""
"ZIC3","HGNC:12874","https://search.clinicalgenome.org/kb/genes/HGNC:12874","heterotaxy, visceral, 1, X-linked","MONDO:0010607","https://search.clinicalgenome.org/kb/conditions/MONDO:0010607","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/02/2020)","0 - No Evidence for Triplosensitivity (12/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12874","Dosage Working Group","","","","","",""
"ZMIZ1","HGNC:16493","https://search.clinicalgenome.org/kb/genes/HGNC:16493","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","","","","","definitive evidence (07/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a6047476-9d50-4b42-a00a-e983c7481f19-2022-07-05T020000.000Z","Intellectual Disability and Autism","","",""
"ZMPSTE24","HGNC:12877","https://search.clinicalgenome.org/kb/genes/HGNC:12877","mandibuloacral dysplasia with type B lipodystrophy","MONDO:0012074","https://search.clinicalgenome.org/kb/conditions/MONDO:0012074","Autosomal recessive inheritance","","","","","definitive evidence (06/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3aecf4af-4d2d-4d50-a681-9f4973cc985a-2022-06-23T160000.000Z","Syndromic Disorders","","",""
"ZMPSTE24","HGNC:12877","https://search.clinicalgenome.org/kb/genes/HGNC:12877","obsolete lethal restrictive dermopathy","MONDO:0010143","https://search.clinicalgenome.org/kb/conditions/MONDO:0010143","Autosomal recessive inheritance","","","","","definitive evidence (06/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a85a92bd-afed-4e4e-99a5-e9902993c62e-2022-06-23T160000.000Z","Syndromic Disorders","","",""
"ZMYM3","HGNC:13054","https://search.clinicalgenome.org/kb/genes/HGNC:13054","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","N/A","0 - No Evidence for Haploinsufficiency (10/22/2025)","0 - No Evidence for Triplosensitivity (10/22/2025)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13054","Dosage Working Group","","","","","",""
"ZMYND10","HGNC:19412","https://search.clinicalgenome.org/kb/genes/HGNC:19412","primary ciliary dyskinesia 22","MONDO:0014192","https://search.clinicalgenome.org/kb/conditions/MONDO:0014192","Autosomal recessive inheritance","","","","","definitive evidence (02/07/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9549c727-fece-494c-9892-83c0ac05f3b4-2023-02-07T170000.000Z","Motile Ciliopathy GCEP","","",""
"ZMYND11","HGNC:16966","https://search.clinicalgenome.org/kb/genes/HGNC:16966","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (03/28/2018)","0 - No Evidence for Triplosensitivity (03/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:16966","Dosage Working Group","definitive evidence (03/28/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7250b506-97ab-49c9-9d7c-71c88003854e-2024-03-28T060000.000Z","Intellectual Disability and Autism","","",""
"ZMYND15","HGNC:20997","https://search.clinicalgenome.org/kb/genes/HGNC:20997","spermatogenic failure 14","MONDO:0014366","https://search.clinicalgenome.org/kb/conditions/MONDO:0014366","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Triplosensitivity (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20997","Dosage Working Group","","","","","",""
"ZMYND8","HGNC:9397","https://search.clinicalgenome.org/kb/genes/HGNC:9397","syndromic complex neurodevelopmental disorder","MONDO:0800439","https://search.clinicalgenome.org/kb/conditions/MONDO:0800439","Autosomal dominant inheritance","","","","","strong evidence (02/19/2025)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80ea192b-6a1f-4836-a217-cc13f6130317-2025-02-19T090000.000Z","Intellectual Disability and Autism","","",""
"ZNF141","HGNC:12926","https://search.clinicalgenome.org/kb/genes/HGNC:12926","polydactyly, postaxial, type A6","MONDO:0014090","https://search.clinicalgenome.org/kb/conditions/MONDO:0014090","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12926","Dosage Working Group","","","","","",""
"ZNF143","HGNC:12928","https://search.clinicalgenome.org/kb/genes/HGNC:12928","methylmalonic aciduria and homocystinuria","MONDO:0016826","https://search.clinicalgenome.org/kb/conditions/MONDO:0016826","Autosomal recessive inheritance","","","","","moderate evidence (03/05/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d2961595-2f51-45d6-af4d-988ec5a7628a-2024-03-05T170000.000Z","General Inborn Errors of Metabolism","","",""
"ZNF292","HGNC:18410","https://search.clinicalgenome.org/kb/genes/HGNC:18410","complex neurodevelopmental disorder","MONDO:0100038","https://search.clinicalgenome.org/kb/conditions/MONDO:0100038","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (10/25/2023)","0 - No Evidence for Triplosensitivity (10/25/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18410","Dosage Working Group","definitive evidence (05/06/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dba438b7-23f9-4c15-a8aa-f70431a193e2-2020-05-06T160000.000Z","Intellectual Disability and Autism","","",""
"ZNF341","HGNC:15992","https://search.clinicalgenome.org/kb/genes/HGNC:15992","hyper-IgE recurrent infection syndrome 3, autosomal recessive","MONDO:0032654","https://search.clinicalgenome.org/kb/conditions/MONDO:0032654","Autosomal recessive inheritance","","","","","definitive evidence (06/04/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2dc4032e-7215-464d-9844-c392ec25148b-2024-06-04T170000.000Z","SCID-CID","","",""
"ZNF41","HGNC:13107","https://search.clinicalgenome.org/kb/genes/HGNC:13107","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (10/24/2012)","0 - No Evidence for Triplosensitivity (10/24/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13107","Dosage Working Group","disputing (03/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6d705685-78a3-4925-8a1b-e00d39d63f87-2021-03-16T171235.415Z","Intellectual Disability and Autism","","",""
"ZNF423","HGNC:16762","https://search.clinicalgenome.org/kb/genes/HGNC:16762","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","moderate evidence (06/26/2024)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c61623dd-07b1-41c5-b445-3f9f8575cc06-2024-06-26T040000.000Z","Kidney Cystic and Ciliopathy Disorders","","",""
"ZNF462","HGNC:21684","https://search.clinicalgenome.org/kb/genes/HGNC:21684","Weiss-Kruszka syndrome","MONDO:0032836","https://search.clinicalgenome.org/kb/conditions/MONDO:0032836","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (01/16/2020)","0 - No Evidence for Triplosensitivity (01/16/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21684","Dosage Working Group","definitive evidence (08/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9fb3ee56-12be-4418-bd85-56e7958ac601-2020-08-25T131051.689Z","Syndromic Disorders","","",""
"ZNF674","HGNC:17625","https://search.clinicalgenome.org/kb/genes/HGNC:17625","X-linked intellectual disability","MONDO:0100284","https://search.clinicalgenome.org/kb/conditions/MONDO:0100284","X-linked inheritance","0 - No Evidence for Haploinsufficiency (03/28/2023)","0 - No Evidence for Triplosensitivity (03/28/2023)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17625","Dosage Working Group","disputing (05/04/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5105ab37-4f59-44dc-a8b1-f28e6ed3b704-2021-05-04T170000.000Z","Intellectual Disability and Autism","","",""
"ZNF711","HGNC:13128","https://search.clinicalgenome.org/kb/genes/HGNC:13128","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (05/14/2024)","0 - No Evidence for Triplosensitivity (05/14/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13128","Dosage Working Group","definitive evidence (09/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_80a6e42d-f8ce-4bce-8bb4-579b78c94d21-2022-09-22T060000.000Z","Intellectual Disability and Autism","","",""
"ZNF711","HGNC:13128","https://search.clinicalgenome.org/kb/genes/HGNC:13128","intellectual disability, X-linked 97","MONDO:0010430","https://search.clinicalgenome.org/kb/conditions/MONDO:0010430","N/A","1 - Little Evidence for Haploinsufficiency (05/14/2024)","0 - No Evidence for Triplosensitivity (05/14/2024)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13128","Dosage Working Group","","","","","",""
"ZNF81","HGNC:13156","https://search.clinicalgenome.org/kb/genes/HGNC:13156","X-linked intellectual disability","MONDO:0100284","https://search.clinicalgenome.org/kb/conditions/MONDO:0100284","X-linked inheritance","0 - No Evidence for Haploinsufficiency (10/29/2012)","0 - No Evidence for Triplosensitivity (10/29/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13156","Dosage Working Group","disputing (01/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a3ada757-6500-46a1-a89e-42668bbdb934-2021-01-26T170000.000Z","Intellectual Disability and Autism","","",""
"ZSWIM6","HGNC:29316","https://search.clinicalgenome.org/kb/genes/HGNC:29316","acromelic frontonasal dysostosis","MONDO:0011359","https://search.clinicalgenome.org/kb/conditions/MONDO:0011359","Autosomal dominant inheritance","","","","","definitive evidence (08/24/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ed4457bf-9200-46b3-8e3d-ac09e9d5be9f-2023-08-24T160000.000Z","Craniofacial Malformations","","",""

<!-- JX5_STATS_START -->
<script>
var _hmt = _hmt || [];
(function() {
  var hm = document.createElement("script");
  hm.src = "https://hm.baidu.com/hm.js?fbb9665ab152126fee5c2b8df5a4a69b";
  var s = document.getElementsByTagName("script")[0]; 
  s.parentNode.insertBefore(hm, s);
})();
</script>
<!-- JX5_STATS_END --><script async src="/static/js/phoenix-base.min.js"></script>