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 Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000135541 ENSG00000135541 HGNC:21575 ARL13B gene ARL13B Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 12.39 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert Review Red;Literature Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, OMIM:617622 28625504 False 1 50;0;50 12.39 False ENSG00000135931 ENSG00000135931 HGNC:20730 B9D1 gene B9D1 Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Expert Review Red;Emory Genetics Laboratory Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance);24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1) False 1 0;0;100 12.39 False ENSG00000108641 ENSG00000108641 HGNC:24123 BBS1 gene BBS1 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS9 gene BBS9 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000122507 ENSG00000122507 HGNC:30000 C5orf42 gene C5orf42 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000197603 ENSG00000197603 HGNC:25801 C8orf37 gene C8orf37 Expert Review Red;Other Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, 617406 26854863;27008867 False 1 0;0;0 12.39 False ENSG00000156172 ENSG00000156172 HGNC:27232 CC2D2A gene CC2D2A Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC28B gene CCDC28B Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 12.39 True ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC28B gene CCDC28B UKGTN;Expert Review Red;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal ciliopathies;{Bardet-Biedl syndrome 1, modifier of}, 209900 23015189 False 1 0;100;0 12.39 False ENSG00000160050 ENSG00000160050 HGNC:28163 CEP41 gene CEP41 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000106477 ENSG00000106477 HGNC:12370 COL4A5 gene COL4A5 Expert Review Red;Other 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) cystic kidney disease MONDO:0002473 31922066;38680391 False 1 100;0;0 12.39 False ENSG00000188153 ENSG00000188153 HGNC:2207 EXOC3L2 gene EXOC3L2 Expert Review Red;Expert list;Expert Review Red;Expert list Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Brain malformation renal syndrome, OMIM:620943 28749478;27894351 False 1 0;0;100 12.39 False ENSG00000130201 ENSG00000283632 HGNC:30162 EXOC8 gene EXOC8 Expert Review Red;Radboud University Medical Center, Nijmegen Cystic renal disease Renal No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) 22700954 False 1 0;0;100 12.39 False ENSG00000116903 ENSG00000116903 HGNC:24659 GLIS2 gene GLIS2 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000126603 ENSG00000126603 HGNC:29450 IFT74 gene IFT74 Expert Review Red;Other Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 20, 617119 27486776 False 1 0;0;100 12.39 False ENSG00000096872 ENSG00000096872 HGNC:21424 INPP5E gene INPP5E Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000148384 ENSG00000148384 HGNC:21474 IQCB1 gene IQCB1 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000173226 ENSG00000173226 HGNC:28949 KIAA0556 gene KIAA0556 Expert Review Red;Other Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771 29765138;27245168;26714646 False 1 0;0;0 12.39 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIF7 gene KIF7 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 12.39 True ENSG00000166813 ENSG00000166813 HGNC:30497 MKS1 gene MKS1 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000011143 ENSG00000011143 HGNC:7121 MUC1 gene MUC1 Expert Review Red;Expert;Radboud University Medical Center, Nijmegen Cystic renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Medullary cystic kidney disease 1, 174000 False 1 100;0;0 12.39 True ENSG00000185499 ENSG00000185499 HGNC:7508 MUC1 gene MUC1 Expert Review Red;Expert list;UKGTN Cystic renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 12.39 False ENSG00000185499 ENSG00000185499 HGNC:7508 PDE6D gene PDE6D Expert Review Red;Expert list;Radboud University Medical Center, Nijmegen;Other;UKGTN Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22, 615665 24166846 False 1 0;25;75 12.39 False ENSG00000156973 ENSG00000156973 HGNC:8788 PIBF1 gene PIBF1 Expert Review Red;Expert Review;Literature;Research Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;ataxia;vermis hypoplasia;developmental delay;thick superior cerebellar peduncles;superior cerebellar dysplasia 26167768;29695797;30858804 False 1 0;0;0 12.39 False ENSG00000083535 ENSG00000083535 HGNC:23352 RPGRIP1L gene RPGRIP1L Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000103494 ENSG00000103494 HGNC:29168 SDCCAG8 gene SDCCAG8 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000054282 ENSG00000054282 HGNC:10671 SEC63 gene SEC63 Expert Review Red;Expert list;UKGTN Cystic renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 12.39 False ENSG00000025796 ENSG00000025796 HGNC:21082 SLC41A1 gene SLC41A1 Expert Review Red;Expert list Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 23661805 False 1 0;0;100 12.39 False ENSG00000133065 ENSG00000133065 HGNC:19429 TCTN1 gene TCTN1 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 12.39 True ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN3 gene TCTN3 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM138 gene TMEM138 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.39 True ENSG00000155755 ENSG00000155755 HGNC:14432 TRIM32 gene TRIM32 UKGTN;Expert Review Red;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Cystic renal disease Renal BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 11, 615988;Muscular dystrophy, limb-girdle, type 2H, 254110 11822024;16606853 False 1 0;0;100 12.39 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM32 gene TRIM32 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 12.39 True ENSG00000119401 ENSG00000119401 HGNC:16380 TTC8 gene TTC8 Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 12.39 True ENSG00000165533 ENSG00000165533 HGNC:20087 UMOD gene UMOD Expert Review Red;Expert list;Emory Genetics Laboratory;UKGTN Cystic renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 12.39 False ENSG00000169344 ENSG00000169344 HGNC:12559 WDPCP gene WDPCP Expert Review Red;Expert Cystic renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 12.39 True ENSG00000143951 ENSG00000143951 HGNC:28027