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 ADAMTS9 gene ADAMTS9 Expert Review Amber;Expert list Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-Related Ciliopathy 30609407 False 2 100;0;0 12.39 False ENSG00000163638 ENSG00000163638 HGNC:13202 BBIP1 gene BBIP1 Expert Review Amber;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, OMIM:615995 24026985;32055034;37239474 False 2 50;50;0 12.39 False ENSG00000214413 ENSG00000214413 HGNC:28093 CEP290 gene CEP290 Expert Review Amber;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 2 100;0;0 12.39 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP55 gene CEP55 Expert Review Amber;Literature Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Meckel-like syndrome;autosomal recessive lethal ciliopathy;renal dysplasia 28295209;30622327;28264986 False 2 0;100;0 12.39 False ENSG00000138180 ENSG00000138180 HGNC:1161 COL4A3 gene COL4A3 Expert Review Amber;Research Cystic renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cystic kidney disease;proteinuria;haematuria 38178635;35602506 False 2 0;0;100 12.39 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Amber;Other Cystic renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cystic kidney disease, MONDO:0002473 31922066;38178635 False 2 50;50;0 12.39 False ENSG00000081052 ENSG00000081052 HGNC:2206 CYS1 gene CYS1 Literature;Expert Review Amber Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease, MONDO:0020642 34521872 False 2 0;100;0 12.39 False ENSG00000205795 ENSG00000205795 HGNC:18525 CYS1 gene CYS1 Expert Review Amber;Literature Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease, MONDO:0020642 34521872 False 2 0;100;0 12.39 False ENSG00000205795 ENSG00000205795 HGNC:18525 DCDC2 gene DCDC2 Expert Review Amber;Orphanet;Expert list;Radboud University Medical Center, Nijmegen Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Neonatal sclerosing cholangitis;Nephronophthisis 19, 616217 25557784;22558177;27319779;27469900;31821705 False 2 0;60;40 12.39 False ENSG00000146038 ENSG00000146038 HGNC:18141 KIF14 gene KIF14 Expert Review Amber;Orphanet;Expert list;Radboud University Medical Center, Nijmegen;Other Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 24128419 False 2 33;67;0 12.39 False ENSG00000118193 ENSG00000118193 HGNC:19181 NEK1 gene NEK1 Expert Review Amber;Expert list Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal "Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520" 21211617;22499340;25492405;28123176 False 2 50;50;0 12.39 False ENSG00000137601 ENSG00000137601 HGNC:7744 OFD1 gene OFD1 Expert Review Amber;Expert Cystic renal disease Renal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 10910455;11179005 False 2 50;50;0 12.39 True ENSG00000046651 ENSG00000046651 HGNC:2567 PDIA6 gene PDIA6 Expert Review Amber;Literature Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes;Polycystic kidney dysplasia, HP:0000113;Diabetes mellitus, HP:0000819;Microcephaly, HP:0000252 33495992;34487921;35856135;39044457;40974269 False 2 50;50;0 12.39 False ENSG00000143870 ENSG00000143870 HGNC:30168 PDIA6 gene PDIA6 Expert Review Amber;Literature Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Polycystic kidney dysplasia, HP:0000113;Diabetes mellitus, HP:0000819;Microcephaly, HP:0000252 33495992;34487921;35856135;39044457;40974269 False 2 100;0;0 12.39 False ENSG00000143870 ENSG00000143870 HGNC:30168 SCLT1 gene SCLT1 Expert Review Amber;Expert list Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome type IX;Senior-Loken syndrome 28486600;30425282;30237576;28005958;24285566 False 2 0;100;0 12.39 False ENSG00000151466 ENSG00000151466 HGNC:26406 SEC61A1 gene SEC61A1 Expert list;Expert Review Amber;Expert Review Cystic renal disease Renal 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 12.39 False ENSG00000058262 ENSG00000058262 HGNC:18276 TMEM17 gene TMEM17 Expert Review Amber;Literature Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome, MONDO:0018921;orofaciodigital syndrome type 6, MONDO:0010176;Joubert syndrome, MONDO:0018772 26982032;32055034;40841990;41054827 False 2 100;0;0 12.39 False ENSG00000186889 ENSG00000186889 HGNC:26623 TMEM17 gene TMEM17 Expert Review Amber;Literature Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome, MONDO:0018921;orofaciodigital syndrome type 6, MONDO:0010176;Joubert syndrome, MONDO:0018772 26982032;32055034;40841990;41054827 False 2 100;0;0 12.39 False ENSG00000186889 ENSG00000186889 HGNC:26623 TMEM72 gene TMEM72 Expert Review Amber;Literature Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal nephronophthisis, MONDO:0019005 41308066 False 2 100;0;0 12.39 False ENSG00000187783 ENSG00000187783 HGNC:31658 TMEM72 gene TMEM72 Expert Review Amber;Literature Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal nephronophthisis, MONDO:0019005 41308066 False 2 100;0;0 12.39 False ENSG00000187783 ENSG00000187783 HGNC:31658 TTC26 gene TTC26 Expert Review Amber;Literature Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Biliary, renal, neurologic, and skeletal syndrome, OMIM:619534;biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191 31595528;32617964;34177428;38135897;39514123 False 2 100;0;0 12.39 False ENSG00000105948 ENSG00000105948 HGNC:21882 ZNF423 gene ZNF423 Orphanet;Radboud University Medical Center, Nijmegen;Expert Review Amber;Expert list;Other;Emory Genetics Laboratory Cystic renal disease Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007;32925911;33323469 False 2 0;50;50 12.39 False ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF423 gene ZNF423 Expert Review Amber;Expert Cystic renal disease Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007;32925911;33323469 False 2 0;100;0 12.39 True ENSG00000102935 ENSG00000102935 HGNC:16762