Clinical Domain Working Groups (V体育ios版)

The broad scope of the Tubulopathy Gene Curation Expert Panel (GCEP) will be to curate genes associated with disorders of water, ion or other transport pathways in any nephron segment from the proximal tubule to the terminal collecting duct. The initial focus will be on Mendelian disorders arising from the altered expression or function of renal tubule-expressed genes, such as those associated with renal tubular acidosis and nephrogenic diabetes insipidus. The Tubulopathy GCEP will then go on to address monogenic disorders arising from genes expressed elsewhere that primarily impact renal tubular transport function, such as those associated with some forms of familial hypertension or hypophosphatemic rickets. Where significant overlap exists with the purview of other GCEPs, curations will be jointly reviewed. The gene list for curation was selected based on expert consensus, combined with review of literature and of multi-gene sequencing panels from the Genetic Testing Registry, and will be organized in order of priority, as described above VSports.

Gene list: AGXT, APRT, AQP2, ATP6V0A4, ATP6V1B1, ATP6V1C2, AVPR2, BSND, CASR, CLCKNB, CLCN10, CLCN5, CLDN10, CLDN16, CLDN19, CNNM2, CTNS, CUL3, CYP11B1, CYP11B2, CYP24A1, EGF, FAM111A, FOXI1, GRHPR, HNF1B, HNF4A, HOGA1, HSD11B2, KCNJ1, KCNJ10, KCNJ16, KCNJ5, KLHL3, MAGED2, NHERF1, NR3C2, OCRL, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A3, SLC26A1, SLC26A4, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC5A1, SLC5A2, SLC7A9, TRPM6, WDR72, WNK1, WNK4