"V体育官网入口" Clinical Domain Working Groups
DICER1 and miRNA-Processing Gene Variant Curation Expert Panel
Membership DocumentsDICER1 encodes a protein essential for the processing of microRNA. Pathogenic germline variation in DICER1 gives rise to an autosomal dominant tumor-predisposition disorder that increases the risk for a variety of benign and malignant tumors, as well as multi-nodular goiter and macrocephaly. DICER1 is one of about 12 known microRNA-processing genes, most of which have no known human phenotype VSports. One known exception is DROSHA, which is associated with Wilms tumor.
The DICER1 and miRNA-Processing Gene Variant Expert Panel will curate clinically relevant DICER1 variants using the specified classification rules developed by the group VSports app下载. After interpreting variants using these specified guidelines, the group will make their final interpretations publicly available through ClinVar. A similar process will be applied to other clinically relevant genes involved with miRNA processing, such as DROSHA.
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Expert Panel Status
Documents
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ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel COIConflict Of Interest (COI) - February 22, 2024
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ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1Curation Activity Procedures - May 5, 2022 Archived Document
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.
Douglas Stewart, MD
Leora Witkowski, PhD, FACMG
Jessica Hatton, MS, CGC
Noura S. Abul-Husn, MD, PhD
Xavier Bofill de Ros, PhD
Elizabeth Chao, MD, FACMG
Kenneth Chen, MD
Stephanie Crowley, PhD
Marc Fabian, PhD
William Foulkes, MBBS, PhD
Megan Frone, MS, CGC
Emily Groopman, MD, PhD
Shuo Gu, PhD
Olivia Harber, MS, LCGC
Susan Hiraki, MPH, MS, CGC
Jung Kim, PhD
Jerry Machado Ph.D, DABMGG, FCCMG
Yoshiko Nakano, MD
Blake Palculict, PhD, FACMG
Deborah Ritter, PhD
Kris Ann Schultz, MD
Mona Wu
Noriko Yokoyama, PhD
James Amatruda, MD, PhD
Michael Anderson, PhD
Morgan Bryars
Ann Carr, MS, CGC
Hannah Cox, PhD
Victoria Ellis, MS, CGC
Amanda Field, MPH
Cecilia Higgs, MHS
D. Ashley Hill, MD
Jessica Mester, MS, CGC
Emily Soper, MS, CGC
Ryan Webb, BS