Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name CEP290 gene CEP290 Expert;Expert Review Amber Cystic kidney disease Structural renal and urinary tract disease Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 2 100;0;0 4.24 True ENSG00000198707 ENSG00000198707 HGNC:29021 COL4A4 gene COL4A4 Expert Review Amber;Other Cystic kidney disease Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cystic kidney disease, MONDO:0002473 31922066 False 2 50;50;0 4.24 False ENSG00000081052 ENSG00000081052 HGNC:2206 NEK8 gene NEK8 Expert;Expert Review Amber Cystic kidney disease Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted polycystic kidney disease, MONDO:0020642;?Nephronophthisis 9, OMIM:613824 18199800;37598857 False 2 100;0;0 4.24 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000160602 ENSG00000160602 HGNC:13387 PRKCSH gene PRKCSH Expert;Expert Review Amber Cystic kidney disease Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 1 with or without kidney cysts, OMIM:174050 12529853;12577059;24886261 False 2 100;0;0 4.24 True ENSG00000130175 ENSG00000130175 HGNC:9411 SEC61A1 gene SEC61A1 Expert list;Expert Review;Expert Review Amber Cystic kidney disease Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown glomerulocystic kidney disease;interstitial nephritis;chronic kidney disease;cystic kidney disease;Hyperuricemic nephropathy, familial juvenile, 4, 617056 31488840;27392076 False 2 50;50;0 4.24 False ENSG00000058262 ENSG00000058262 HGNC:18276 SEC63 gene SEC63 Expert;Expert Review Amber Cystic kidney disease Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 2 with or without kidney cysts, OMIM:617004 15133510;24886261 False 2 100;0;0 4.24 True ENSG00000025796 ENSG00000025796 HGNC:21082 ZNF423 gene ZNF423 Expert;Expert Review Amber Cystic kidney disease Structural renal and urinary tract disease Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007;32925911;33323469 False 2 0;100;0 4.24 True ENSG00000102935 ENSG00000102935 HGNC:16762