Clinical Domain Working Groups

The broad scope of the Glomerulopathy Gene Curation Expert Panel (GCEP) will be to curate genes associated with glomerular disorders and the altered function of podocytes, endothelial cells, mesangial cells, and the glomerular basement membrane (GBM). Defects in >150 genes have been asserted to cause disorders of the glomerular filtration barrier and this list will continue to expand. The initial focus of the Glomerulopathy GCEP will be on Mendelian disorders arising from the altered expression or function of glomerular-expressed genes, presenting with idiopathic haematuria and/or proteinuria. The GCEP will then go on to address monogenic disorders arising from genes expressed elsewhere that primarily impact the glomerular filtration barrier. 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.

Gene list: ACTN4, ACVRL1, ADA2, ADAMTS13, ALG1, ALMS1, AMN, ANKFY1, ANLN, APOA1, APOE, APOL1, ARHGAP24, ARHGDIA, B2M, C1QA, C1QB, C1QC, C2, C3, C4A, CASP10, CBLIF, CD151, CD19, CD2AP, CD81, CDK20, CFH, CFHR5, CFI, CLCN5, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COPA, COQ2, COQ6, COQ7, COQ8A, COQ8B, COQ9, CRB2, CUBN, CYP11B2, DAAM2, DGKE, DHFR, DHTKD1, DKC1, DLC1, DLG3, DNASE1L3, E2F3, EMP2, ENG, ERCC6, ERCC8, FAT1, FGA, FN1, FOXC2, GAPVD1, GATA6, GDF2, GLA, GLB1, GON7, GSN, IL1RAP, INF2, ITGA3, ITGB4, ITSN1, ITSN2, KANK1, KANK2, KANK4, KIRREL1, LAGE3, LAMA5, LAMB2, LAMC2, LCAT, LMNA, LMX1B, LYZ, MAFB, MAGI2, MED28, MEFV, MTR, MTRR, MYH9, MYO1E, NARS2, NEIL1, NEU1, NLRP3, NOP10, NOS1AP, NPHP4, NPHS1, NPHS2, NUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP93, NXF5, OCRL, OSGEP, PAX2, PDSS1, PDSS2, PGK1, PGM3, PLCE1, PLCG2, PMM2, PODXL, PRKCD, PTPRO, SCARB2, SGPL1, SLC17A5, SLC19A2, SLC19A3, SMARCAL1, SOX18, SYNPO, SYNPO2, TBC1D8B, TNFRSF1A, TNS2, TP53RK, TPRKB, TREX1, TRIM8, TRPC6, TTC21B, TTR, VIPAS39, VPS33B, WAS, WDR73, WT1, XPO5, YAP1, YRDC, ZAP70, ZMPSTE24