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 AHI1 gene AHI1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3, MIM#608629 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 PubMed: 15322546;15467982;16453322;29146704 False 3 100;0;0 1.26 True ENSG00000135541 ENSG00000135541 HGNC:21575 ANKS6 gene ANKS6 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 16, MIM# 615382;MONDO:0014158 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 23793029;31678577;31635528;26039630;24610927 False 3 100;0;0 1.26 True ENSG00000165138 ENSG00000165138 HGNC:26724 ARL13B gene ARL13B Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8, MIM# 612291 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 18674751;25138100;26092869;27894351;29255182;17488627 False 3 100;0;0 1.26 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, MIM# 600151 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 15258860;32361989;31888296;25402481 False 3 100;0;0 1.26 True ENSG00000113966 ENSG00000113966 HGNC:13210 BBS1 gene BBS1 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1, MIM# 209900 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 20177705 False 3 100;0;0 1.26 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, MIM# 615987 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 16582908;19252258 False 3 100;0;0 1.26 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, MIM# 615989 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 19797195;29633607;26082521 False 3 100;0;0 1.26 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, MIM# 615981 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 11567139;16823392;28143435 False 3 100;0;0 1.26 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, MIM#615982;MONDO:0014433 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 12016587;11381270 False 3 100;0;0 1.26 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, MIM#615983;MONDO:0014434 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 19252258;15137946;10053027;15637713 False 3 100;0;0 1.26 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, MIM# 615984;MONDO:0014435 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 12567324;21937992;19797195 False 3 100;0;0 1.26 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, MIM#615986;MONDO:0014437 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 16380913;22353939;32686083;32037757 False 3 100;0;0 1.26 True ENSG00000122507 ENSG00000122507 HGNC:30000 CC2D2A gene CC2D2A Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 6, MIM# 612284 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 3 100;0;0 1.26 True ENSG00000048342 ENSG00000048342 HGNC:29253 CEP164 gene CEP164 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome;Nephronophthisis 15, MIM# 614845;Oro-facio-digital syndrome Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 34132027;34013113;32055034;27708425;22863007 False 3 100;0;0 1.26 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 6, MIM# 610189 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 18327255;20690115;16682973;32208788 False 3 100;0;0 1.26 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP83 gene CEP83 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, MIM# 615862;MONDO:0014374;Retinal dystrophy;ID Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 24882706;33938610 False 3 100;0;0 1.26 True ENSG00000173588 ENSG00000173588 HGNC:17966 CRB2 gene CRB2 Expert list;Expert Review Green Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Ventriculomegaly with cystic kidney disease, MIM# 219730" Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 25557780;33687977;32051522;30212996 False 3 100;0;0 1.26 True ENSG00000148204 ENSG00000148204 HGNC:18688 CSPP1 gene CSPP1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, MIM# 615636;MONDO:0014288 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 24360808;24360803;24360807;25997910 False 3 100;0;0 1.26 True ENSG00000104218 ENSG00000104218 HGNC:26193 DCDC2 gene DCDC2 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 19, MIM# 616217 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 25557784;31821705;27469900 False 3 33;67;0 1.26 True ENSG00000146038 ENSG00000146038 HGNC:18141 DLG5 gene DLG5 Expert Review;Expert Review Green Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Yuksel-Vogel-Bauer syndrome, MIM#620703 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 32631816 False 3 100;0;0 1.26 True ENSG00000151208 ENSG00000151208 HGNC:2904 DYNC2H1 gene DYNC2H1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091;MONDO:0013127MONDO:0013127 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 31730820 False 3 100;0;0 1.26 True ENSG00000187240 ENSG00000187240 HGNC:2962 FAN1 gene FAN1 Expert list;Expert Review Green Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Interstitial nephritis, karyomegalic, MIM# 614817 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 PubMed: 22772369;16678356;7847351;8546134 False 3 100;0;0 1.26 True ENSG00000198690 ENSG00000198690 HGNC:29170 GLIS2 gene GLIS2 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 7, OMIM#611498;MONDO:0012680 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 17618285;23559409;31676329 False 3 50;50;0 1.26 True ENSG00000126603 ENSG00000126603 HGNC:29450 IFT122 gene IFT122 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1, MIM# 218330;MONDO:0021093 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 20493458;23826986;28370949;33717254;26792575 False 3 100;0;0 1.26 True ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920;MONDO:0009964;Cystic Kidney Disease, MONDO# 0002473, IFT140-related, dominant Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 22503633;23418020;34890546 False 3 100;0;0 1.26 True ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20, MIM# 619471;Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 30761183;26763875;25168386;24140113 False 3 100;0;0 1.26 True ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert list;Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, MIM#615996 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 24488770;30761183;26763875;25443296 False 3 100;0;0 1.26 True ENSG00000100360 ENSG00000100360 HGNC:18626 IFT43 gene IFT43 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866;Cranioectodermal dysplasia 3, MIM# 614099 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 28400947;21378380;29896747 False 3 100;0;0 1.26 True ENSG00000119650 ENSG00000119650 HGNC:29669 IFT74 gene IFT74 Expert Review Green;KidGen_CilioNephronop v38.1.0;Literature Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20 617119 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 27486776;32144365 False 3 67;33;0 1.26 True ENSG00000096872 ENSG00000096872 HGNC:21424 INPP5E gene INPP5E Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 1, MIM# 213300;MONDO:0008944 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 19668216;32139166;29230161;29052317;27998989;27401686 False 3 100;0;0 1.26 True ENSG00000148384 ENSG00000148384 HGNC:21474 INVS gene INVS Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, (MIM#602088) Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 12872123;19177160 False 3 100;0;0 1.26 True ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5, MIM# 609254;MONDO:0012225 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 15723066;21220633;20881296;21901789;33512896;33535056;29219953 False 3 100;0;0 1.26 True ENSG00000173226 ENSG00000173226 HGNC:28949 LZTFL1 gene LZTFL1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17 (MIM#615994) Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 22510444;23692385;27312011;22072986 False 3 100;0;0 1.26 True ENSG00000163818 ENSG00000163818 HGNC:6741 MAPKBP1 gene MAPKBP1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 20, MIM# 617271;MONDO:0014997 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 28089251;33623699;32505465;32055034 False 3 100;0;0 1.26 True ENSG00000137802 ENSG00000137802 HGNC:29536 MKKS gene MKKS Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6 (MIM#605231);McKusick-Kaufman syndrome, MIM# 236700 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 10802661;10973251 False 3 100;0;0 1.26 True ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 13, MIM# 615990;MONDO:0014441;Meckel syndrome 1, MIM# 249000 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 18327255;24608809;17377820 False 3 100;0;0 1.26 True ENSG00000011143 ENSG00000011143 HGNC:7121 NEK1 gene NEK1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 21211617;22499340;25492405;28123176 False 3 100;0;0 1.26 True ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 2, MIM# 615415;MONDO:0014174;Familial renal cystic disease MONDO:0019741, NEK8-related, dominant Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 33131162;23418306;26862157;26697755;26967905;23274954;31633649 False 3 100;0;0 1.26 True ENSG00000160602 ENSG00000160602 HGNC:13387 NPHP1 gene NPHP1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 1, juvenile, MIM# 256100 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 23559409 False 3 100;0;0 1.26 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 3, MIM# 604387;Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 19177160;34013113;33323469;32341812;28921755 False 3 100;0;0 1.26 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4, MIM# 606966;Senior-Loken syndrome 4, MIM# 606996 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 12244321;12205563;34013113 False 3 100;0;0 1.26 True ENSG00000131697 ENSG00000131697 HGNC:19104 OFD1 gene OFD1 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Orofaciodigital syndrome I, MIM# 311200;Joubert syndrome 10, MIM# 300804 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 19800048;22353940 False 3 100;0;0 1.26 True ENSG00000046651 ENSG00000046651 HGNC:2567 PKHD1 gene PKHD1 Expert Review;Expert Review Green Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200" Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 3 100;0;0 1.26 True ENSG00000170927 ENSG00000170927 HGNC:9016 PSKH1 gene PSKH1 Expert Review Green;Literature Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 13, MIM# 620962 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 PMID: 39132680 False 3 100;0;0 1.26 True ENSG00000159792 ENSG00000159792 HGNC:9529 RPGRIP1L gene RPGRIP1L Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7, MIM# 611560;Meckel syndrome 5, MIM# 611561;COACH syndrome 3, MIM# 619113;Nephronophthisis Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 17558409;17558407;17960139;26071364 False 3 100;0;0 1.26 True ENSG00000103494 ENSG00000103494 HGNC:29168 SCLT1 gene SCLT1 Expert list;Expert Review Green Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome;Bardet-Biedl syndrome Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 28486600;30425282;30237576;28005958;24285566 False 3 33;33;33 1.26 True ENSG00000151466 ENSG00000151466 HGNC:26406 SDCCAG8 gene SDCCAG8 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 16, MIM# 615993;MONDO:0014444;Senior-Loken syndrome 7, MIM# 613615;MONDO:0013326;Nephronophthisis Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 20835237;22626039;22626039;32432520;31534065;26968886 False 3 100;0;0 1.26 True ENSG00000054282 ENSG00000054282 HGNC:10671 TCTN2 gene TCTN2 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24, MIM# 616654;MONDO:0014724;Meckel syndrome 8, MIM# 613885;MONDO:0013482 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 21462283;21565611;25118024;21725307;32139166;25118024;32655147;33590725 False 3 100;0;0 1.26 True ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 18, MIM# 614815;MONDO:0013896;Mohr-Majewski syndrome;Meckel-Gruber syndrome Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 22883145;32139166;25118024;22883145;34096792 False 3 100;0;0 1.26 True ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM138 gene TMEM138 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 16, MIM# 614465;MONDO:0013764 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 22282472;28102635;27434533 False 3 100;0;0 1.26 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 2, MIM# 608091;Meckel syndrome 2, MIM# 603194 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 20036350;20512146 False 3 100;0;0 1.26 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, MIM# 614970;MONDO:0013994;Meckel syndrome 11, MIM# 615397;MONDO:0014164 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 23012439;23349226;22179047;30617574;27449316;31663672;25869670 False 3 100;0;0 1.26 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 14, MIM# 614424 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 22152675 False 3 100;0;0 1.26 True ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 11, MIM# 613550;Joubert syndrome 6, MIM# 610688;Meckel syndrome 3, MIM# 607361 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 16415887;17377820;17160906;19508969 False 3 100;0;0 1.26 True ENSG00000164953 ENSG00000164953 HGNC:28396 TRAF3IP1 gene TRAF3IP1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9, MIM# 616629;MONDO:0014712 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 26487268;18364699;21945076 False 3 100;0;0 1.26 True ENSG00000204104 ENSG00000204104 HGNC:17861 TTC21B gene TTC21B Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, MIM# 613820;Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 29068549;25492405;21258341 False 3 100;0;0 1.26 True ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, MIM# 615985 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 14520415;19797195 False 3 100;0;0 1.26 True ENSG00000165533 ENSG00000165533 HGNC:20087 TULP3 gene TULP3 Expert Review Green;Literature Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hepatorenocardiac degenerative fibrosis, MIM# 619902 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 PMID: 35397207 False 3 100;0;0 1.26 True ENSG00000078246 ENSG00000078246 HGNC:12425 TXNDC15 gene TXNDC15 Expert Review;Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 14, MIM# 619879 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 30851085;27894351 False 3 100;0;0 1.26 True ENSG00000113621 ENSG00000113621 HGNC:20652 WDPCP gene WDPCP Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 15, MIM# 615992;OFD;Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 20671153;25427950;32055034;29588463;28289185 False 3 100;0;0 1.26 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 13, MIM# 614377;Senior-Loken syndrome 8, MIM# 616307 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 22019273;23559409;23683095 False 3 100;0;0 1.26 True ENSG00000157796 ENSG00000157796 HGNC:18340 WDR35 gene WDR35 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091;MONDO:0013569;Cranioectodermal dysplasia 2, MIM# 613610 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 21473986 False 3 100;0;0 1.26 True ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 23910462;29271569;26874042 False 3 100;0;0 1.26 True ENSG00000126870 ENSG00000126870 HGNC:21862 XPNPEP3 gene XPNPEP3 Expert Review Green;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1, OMIM #613159 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 20179356;32660933 False 3 50;0;50 1.26 True ENSG00000196236 ENSG00000196236 HGNC:28052 ADAMTS9 gene ADAMTS9 Expert Review Amber;Literature Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 PMID:30609407 False 2 50;50;0 1.26 True ENSG00000163638 ENSG00000163638 HGNC:13202 B9D2 gene B9D2 Expert Review Amber;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 10, MIM# 614175 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 21763481 False 2 0;100;0 1.26 True ENSG00000123810 ENSG00000123810 HGNC:28636 BBIP1 gene BBIP1 Expert Review Amber;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, MIM#615995 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 24026985;32055034 False 2 0;100;0 1.26 True ENSG00000214413 ENSG00000214413 HGNC:28093 CEP120 gene CEP120 Expert Review Amber;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 2 50;50;0 1.26 True ENSG00000168944 ENSG00000168944 HGNC:26690 CEP41 gene CEP41 Expert Review Amber;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15, MIM# 614464 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 22246503 False 2 0;100;0 1.26 True ENSG00000106477 ENSG00000106477 HGNC:12370 CYS1 gene CYS1 Expert Review Amber;Literature Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease, MONDO:0020642 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 34521872 False 2 0;100;0 1.26 True ENSG00000205795 ENSG00000205795 HGNC:18525 DDX59 gene DDX59 Expert Review;Expert Review Amber;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V (MIM#174300) Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 29127725;23972372;28711741 False 2 50;50;0 1.26 True ENSG00000118197 ENSG00000118197 HGNC:25360 PDIA6 gene PDIA6 Expert Review Amber;Literature Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 PMID: 33495992 False 2 0;100;0 1.26 True ENSG00000143870 ENSG00000143870 HGNC:30168 TMEM107 gene TMEM107 Expert Review;Expert Review Amber;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 13 (MIM#617562);Orofaciodigital syndrome XVI (MIM#617563) Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 26595381;26123494 False 2 0;100;0 1.26 True ENSG00000179029 ENSG00000179029 HGNC:28128 ZNF423 gene ZNF423 Expert Review;Expert Review Amber;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 19, OMIM# 614844 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 22863007 False 2 0;100;0 1.26 True ENSG00000102935 ENSG00000102935 HGNC:16762