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 ACTA2 gene ACTA2 Expert Review Red Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multi system smooth muscle dysfunction False 1 100;0;0 1.22 False ENSG00000107796 ENSG00000107796 HGNC:130 AHI1 gene AHI1 Expert Review Red Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome-3 608629 False 1 100;0;0 1.22 False ENSG00000135541 ENSG00000135541 HGNC:21575 ALG1 gene ALG1 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;0 1.22 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALMS1 gene ALMS1 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;0 1.22 False ENSG00000116127 ENSG00000116127 HGNC:428 APOL1 gene APOL1 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;0 1.22 False ENSG00000100342 ENSG00000100342 HGNC:618 ARHGAP24 gene ARHGAP24 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;0 1.22 False ENSG00000138639 ENSG00000138639 HGNC:25361 ARL13B gene ARL13B Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 1.22 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000113966 ENSG00000113966 HGNC:13210 BBS1 gene BBS1 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS9 gene BBS9 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000122507 ENSG00000122507 HGNC:30000 BICC1 gene BICC1 Expert Review Red Renal and urinary tract disorders Unknown {Renal dysplasia, cystic, susceptibility to}, 601331 False 1 0;0;100 1.22 False ENSG00000122870 ENSG00000122870 HGNC:19351 BMP4 gene BMP4 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;100 1.22 False ENSG00000125378 ENSG00000125378 HGNC:1071 BSND gene BSND Expert Review Red Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a, 602522;Sensorineural deafness with mild renal dysfunction, 602522 False 1 50;0;50 1.22 False ENSG00000162399 ENSG00000162399 HGNC:16512 C5orf42 gene C5orf42 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000197603 ENSG00000197603 HGNC:25801 CC2D2A gene CC2D2A Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC28B gene CCDC28B Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 1.22 False ENSG00000160050 ENSG00000160050 HGNC:28163 CD151 gene CD151 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;0 1.22 False ENSG00000177697 ENSG00000177697 HGNC:1630 CD2AP gene CD2AP Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;0 1.22 False ENSG00000198087 ENSG00000198087 HGNC:14258 CEP41 gene CEP41 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000106477 ENSG00000106477 HGNC:12370 CFHR5 gene CFHR5 Expert Review Red Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted macroscopic haematuria;kidney failure;Haematuria;C3 glomerulopathy 24067434;PubMed: 20800271 False 1 0;0;0 1.22 False ENSG00000134389 ENSG00000134389 HGNC:24668 CHD1L gene CHD1L Expert Review Red Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ORPHA93545;Renal or urinary tract malformation (CAKUT) 22146311;24429398 False 1 0;0;0 1.22 False ENSG00000131778 ENSG00000131778 HGNC:1916 CHRM3 gene CHRM3 Expert Review Red Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Prune Belly-Like Syndrome;Low pressure congenital megabladder Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altm ller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann K-P, Beetz R, Hoyer PF, Konrad M, Schaefer F, N rnberg P, Woolf AS. Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome. Am J Hum Genet 89:668-674, 2011. False 1 50;0;50 1.22 False ENSG00000133019 ENSG00000133019 HGNC:1952 COL4A6 gene COL4A6 Expert Review Red Renal and urinary tract disorders Unknown Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4);diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4);(originally on Alport syndrome gene panel);diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 False 1 0;0;0 1.22 False ENSG00000197565 ENSG00000197565 HGNC:2208 COX10 gene COX10 Expert Review Red Renal and urinary tract disorders Unknown Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency False 1 0;0;100 1.22 False ENSG00000006695 ENSG00000006695 HGNC:2260 CYP11B2 gene CYP11B2 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;0 1.22 False ENSG00000179142 ENSG00000179142 HGNC:2592 DACT1 gene DACT1 Expert Review Red Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Townes-Brocks syndrome 2,617466;TBS2 19701191;22610794;28054444 False 1 0;0;100 1.22 False ENSG00000165617 ENSG00000165617 HGNC:17748 DHFR gene DHFR Expert Review Red Renal and urinary tract disorders Unknown (originally on the Imerslund-Grasbeck syndrome gene panel);Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 False 1 0;0;0 1.22 False ENSG00000228716 ENSG00000228716 HGNC:2861 DLG3 gene DLG3 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;100;0 1.22 False ENSG00000082458 ENSG00000082458 HGNC:2902 E2F3 gene E2F3 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;0 1.22 False ENSG00000112242 ENSG00000112242 HGNC:3115 FOXC1 gene FOXC1 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;100 1.22 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;100 1.22 False ENSG00000176692 ENSG00000176692 HGNC:3801 GDNF gene GDNF Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;100 1.22 False ENSG00000168621 ENSG00000168621 HGNC:4232 GIF gene GIF Expert Review Red Renal and urinary tract disorders Unknown GIF mutations may phenocopy this disorder;(originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;0 1.22 False ENSG00000134812 ENSG00000134812 HGNC:4268 GLIS2 gene GLIS2 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000126603 ENSG00000126603 HGNC:29450 GREM1 gene GREM1 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;100 1.22 False ENSG00000166923 ENSG00000166923 HGNC:2001 HCN3 gene HCN3 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;100 1.22 False ENSG00000143630 ENSG00000143630 HGNC:19183 INPP5E gene INPP5E Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000148384 ENSG00000148384 HGNC:21474 IQCB1 gene IQCB1 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000173226 ENSG00000173226 HGNC:28949 ITGB4 gene ITGB4 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;0 1.22 False ENSG00000132470 ENSG00000132470 HGNC:6158 KANK2 gene KANK2 Expert Review Red Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome 125(6):2375 2384;J Clin Invest. 2015 False 1 0;0;0 1.22 False ENSG00000197256 ENSG00000197256 HGNC:29300 KIF7 gene KIF7 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 1.22 False ENSG00000166813 ENSG00000166813 HGNC:30497 KIT gene KIT Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;100 1.22 False ENSG00000157404 ENSG00000157404 HGNC:6342 MKS1 gene MKS1 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000011143 ENSG00000011143 HGNC:7121 MTR gene MTR Expert Review Red Renal and urinary tract disorders Unknown Homocystinuria-megaloblastic anemia, cblG complementation type, 250940;{Neural tube defects, folate-sensitive, susceptibility to}, 601634;(originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;0 1.22 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Expert Review Red Renal and urinary tract disorders Unknown Homocystinuria-megaloblastic anemia, cbl E type, 236270;(originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;0 1.22 False ENSG00000124275 ENSG00000124275 HGNC:7473 MYH11 gene MYH11 Expert Review Red Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome False 1 0;0;100 1.22 False ENSG00000133392 ENSG00000133392 HGNC:7569 NEK8 gene NEK8 Expert Review Red Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415 False 1 50;0;50 1.22 False ENSG00000160602 ENSG00000160602 HGNC:13387 OCRL gene OCRL Expert Review Red Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females False 1 50;0;50 1.22 False ENSG00000122126 ENSG00000122126 HGNC:8108 PDSS2 gene PDSS2 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;0 1.22 False ENSG00000164494 ENSG00000164494 HGNC:23041 PMM2 gene PMM2 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;0 1.22 False ENSG00000140650 ENSG00000140650 HGNC:9115 PRKCSH gene PRKCSH Expert Review Red Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 1 100;0;0 1.22 False ENSG00000130175 ENSG00000130175 HGNC:9411 PTPRO gene PTPRO Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;0 1.22 False ENSG00000151490 ENSG00000151490 HGNC:9678 ROBO2 gene ROBO2 Expert Review Red Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vesicoureteral reflux 2, 610878;Vesicoureteral Reflux False 1 0;0;100 1.22 False ENSG00000185008 ENSG00000185008 HGNC:10250 SDCCAG8 gene SDCCAG8 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000054282 ENSG00000054282 HGNC:10671 SEC63 gene SEC63 Expert Review Red Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 1 100;0;0 1.22 False ENSG00000025796 ENSG00000025796 HGNC:21082 SHH gene SHH Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;100 1.22 False ENSG00000164690 ENSG00000164690 HGNC:10848 SIX1 gene SIX1 Expert Review Red Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal Spectrum Disorders False 1 100;0;0 1.22 False ENSG00000126778 ENSG00000126778 HGNC:10887 SLC19A2 gene SLC19A2 Expert Review Red Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-Responsive Megaloblastic Anemia;Thiamine-responsive megaloblastic anemia syndrome, 249270;(originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;0 1.22 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert Review Red Renal and urinary tract disorders Unknown Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive;(originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;0 1.22 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLIT2 gene SLIT2 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;100 1.22 False ENSG00000145147 ENSG00000145147 HGNC:11086 SMARCA4 gene SMARCA4 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;100 1.22 False ENSG00000127616 ENSG00000127616 HGNC:11100 SOX17 gene SOX17 Expert Review Red Renal and urinary tract disorders Unknown Vesicoureteral reflux 3, 613674 False 1 0;0;100 1.22 False ENSG00000164736 ENSG00000164736 HGNC:18122 SPRY1 gene SPRY1 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;100 1.22 False ENSG00000164056 ENSG00000164056 HGNC:11269 TCTN1 gene TCTN1 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 1.22 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN3 gene TCTN3 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM138 gene TMEM138 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 1.22 False ENSG00000155755 ENSG00000155755 HGNC:14432 TNXB gene TNXB Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;100 1.22 False ENSG00000168477 ENSG00000168477 HGNC:11976 TRIM32 gene TRIM32 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 1.22 False ENSG00000119401 ENSG00000119401 HGNC:16380 TSHZ3 gene TSHZ3 Expert Review Red Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;100 1.22 False ENSG00000121297 ENSG00000121297 HGNC:30700 TTC8 gene TTC8 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 1.22 False ENSG00000165533 ENSG00000165533 HGNC:20087 UPK2 gene UPK2 Expert Review Red Renal and urinary tract disorders Other - please specifiy in evaluation comments False 1 0;0;100 1.22 False ENSG00000110375 ENSG00000110375 HGNC:12579 UPK3A gene UPK3A Expert Review Red Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal Adysplasia False 1 0;0;100 1.22 False ENSG00000100373 ENSG00000100373 HGNC:12580 VIPAS39 gene VIPAS39 Expert Review Red Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 False 1 100;0;0 1.22 False ENSG00000151445 ENSG00000151445 HGNC:20347 WDPCP gene WDPCP Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 1.22 False ENSG00000143951 ENSG00000143951 HGNC:28027 XPNPEP3 gene XPNPEP3 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 1.22 False ENSG00000196236 ENSG00000196236 HGNC:28052 ZMPSTE24 gene ZMPSTE24 Expert Review Red Renal and urinary tract disorders Unknown False 1 0;0;0 1.22 False ENSG00000084073 ENSG00000084073 HGNC:12877 ZNF423 gene ZNF423 Expert Review Red Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 1.22 False ENSG00000102935 ENSG00000102935 HGNC:16762