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 ACE gene ACE Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal Tubular Dysgenesis;Renal Tubular Dysgenesis 267430;{Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular False 3 100;0;0 1.22 False ENSG00000159640 ENSG00000159640 HGNC:2707 ACTG2 gene ACTG2 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted visceral myopathy;Megacystis-microcolon intestinal hypoperistalsis syndrome;Berdon syndrome;Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 PMID: 25998219 False 3 100;0;0 1.22 False ENSG00000163017 ENSG00000163017 HGNC:145 ACTN4 gene ACTN4 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 1 603278 26301083;16251236;10700177 False 3 0;0;0 1.22 False ENSG00000130402 ENSG00000130402 HGNC:166 AGT gene AGT Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal Tubular Dysgenesis;Renal tubular dysgenesis, 267430;{Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430 False 3 100;0;0 1.22 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal Tubular Dysgenesis;Renal tubular dysgenesis, 267430;Hypertension, essential, 145500;Renal tubular dysgenesis, 267430 False 3 100;0;0 1.22 False ENSG00000144891 ENSG00000144891 HGNC:336 AMN gene AMN Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Norwegian type 261100 12590260 False 3 0;0;0 1.22 False ENSG00000166126 ENSG00000166126 HGNC:14604 ANKS6 gene ANKS6 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 16 615382 False 3 100;0;0 1.22 False ENSG00000165138 ENSG00000165138 HGNC:26724 ANOS1 gene ANOS1 Expert Review Green Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Kallman syndrome;Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 11531922;9719154 False 3 67;0;33 1.22 False ENSG00000011201 ENSG00000011201 HGNC:6211 ARHGDIA gene ARHGDIA Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 8 615244 False 3 0;0;0 1.22 False ENSG00000141522 ENSG00000141522 HGNC:678 BNC2 gene BNC2 Expert Review Green;Other Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Posterior urethral valves;PUV;Congenital lower urinary-tract obstruction 31051115 False 3 50;0;50 1.22 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000173068 ENSG00000173068 HGNC:30988 C3 gene C3 Expert Review Green Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal C3 deficiency 613779 AR;{Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD 15781264;18796626 False 3 0;0;0 1.22 False ENSG00000125730 ENSG00000125730 HGNC:1318 CD46 gene CD46 Expert Review Green Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922 16621965;14566051;14615110 False 3 0;0;0 1.22 False ENSG00000117335 ENSG00000117335 HGNC:6953 CEP164 gene CEP164 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 15 614845 False 3 100;0;0 1.22 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP83 gene CEP83 Expert list;Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal NEPHRONOPHTHISIS 18 24882706 False 3 0;0;0 1.22 False ENSG00000173588 ENSG00000173588 HGNC:17966 CFB gene CFB Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924 17182750;20108004 False 3 0;0;0 1.22 False ENSG00000243649 ENSG00000243649 HGNC:1037 CFH gene CFH Expert Review Green Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement factor H deficiency 609814;{Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400 False 3 0;0;0 1.22 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFI gene CFI Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923 15173250;16621965 False 3 0;0;0 1.22 False ENSG00000205403 ENSG00000205403 HGNC:5394 CHD7 gene CHD7 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome 214800 False 3 100;0;0 1.22 False ENSG00000171316 ENSG00000171316 HGNC:20626 CLCN5 gene CLCN5 Expert Review Green Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Nephrolithiasis, type I, 310468;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990;Dent disease, 300009;Hypophosphatemic rickets, 300554 False 3 0;0;0 1.22 False ENSG00000171365 ENSG00000171365 HGNC:2023 COL4A1 gene COL4A1 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted haematuria;tortuous retinal vessels;intracranial anuerysms;Exophytic renal cysts;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773;raised creatinine kinase 20818663;18160688 False 3 100;0;0 1.22 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A3 gene COL4A3 Expert Review Green Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Alport syndrome, autosomal dominant, 104200;Hematuria, benign familial, 141200;Alport syndrome, autosomal recessive, 203780 25381091 False 3 0;0;0 1.22 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Alport syndrome, autosomal recessive, 203780;Hematuria,familial benign 25381091 False 3 0;0;0 1.22 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert Review Green Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Alport syndrome 301050 False 3 0;0;0 1.22 False ENSG00000188153 ENSG00000188153 HGNC:2207 COQ2 gene COQ2 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1 301050 False 3 0;0;0 1.22 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ6 gene COQ6 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6 614650 False 3 0;0;0 1.22 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8B gene COQ8B Expert Review;Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9 615573 24270420 False 3 100;0;0 1.22 False ENSG00000123815 ENSG00000123815 HGNC:19041 CTNS gene CTNS Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cystinosis, atypical nephropathic 219800;Cystinosis, nephropathic 219800;Cystinosis, late-onset juvenile or adolescent nephropathic 219900 27604308;19863563;9537412 False 3 100;0;0 1.22 False ENSG00000040531 ENSG00000040531 HGNC:2518 CUBN gene CUBN Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100 21208123;21903995;10080186 False 3 0;0;0 1.22 False ENSG00000107611 ENSG00000107611 HGNC:2548 DGKE gene DGKE Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008;Nephrotic syndrome, type 7 615008 23542698;23274426 False 3 0;0;0 1.22 False ENSG00000153933 ENSG00000153933 HGNC:2852 DNAJB11 gene DNAJB11 Expert Review Green;Other Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted end stage renal failure;non-enlarged kidney;cystic kidney disease;Polycystic kidney disease;Tubulointerstitial kidney disease 29706351 False 3 100;0;0 1.22 False ENSG00000090520 ENSG00000090520 HGNC:14889 DSTYK gene DSTYK Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia;vesicoureteric reflux;{Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805;ureteropelvic junction obstruction;CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1;{Congenital anomalies of kidney and urinary tract, susceptibility to} False 3 67;0;33 1.22 False ENSG00000133059 ENSG00000133059 HGNC:29043 DZIP1L gene DZIP1L Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ARPKD;Polycystic kidney disease 5 617610 28530676 False 3 100;0;0 1.22 False Other - please provide details in the comments ENSG00000158163 ENSG00000158163 HGNC:26551 EYA1 gene EYA1 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 1, with or without cataracts, 113650;Anterior segment anomalies with or without cataract, 113650;Branchiootic syndrome 1, 602588;Otofaciocervical syndrome, 166780;Branchiootorenal syndrome 1, with or without cataracts;Branchiootorenal Spectrum Disorders False 3 100;0;0 1.22 False ENSG00000104313 ENSG00000104313 HGNC:3519 FRAS1 gene FRAS1 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome;Fraser syndrome 219000 False 3 100;0;0 1.22 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bifid nose with or without anorectal and renal anomalies, 608980 PMID: 24700879 False 3 100;0;0 1.22 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome;Fraser syndrome 219000 False 3 100;0;0 1.22 False ENSG00000150893 ENSG00000150893 HGNC:25396 GANAB gene GANAB Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mild cystic kidney and liver disease;Polycyctic kidney disease 3 Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Ba ales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audr zet MP, Ferec C, Le Meur Y, Torres VE, Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group, Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Harris PC. Mutations in GANAB, Encoding the Glucosidase II Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet. 2016 Jun 2;98(6):1193-207. doi: 10.1016/j.ajhg.2016.05.004. PubMed PMID: 27259053, PubMed Central PMCID: PMC4908191. False 3 100;0;0 1.22 False ENSG00000089597 ENSG00000089597 HGNC:4138 GATA3 gene GATA3 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, Sensorineural Deafness, and Renal Disease;Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 False 3 100;0;0 1.22 False ENSG00000107485 ENSG00000107485 HGNC:4172 GLA gene GLA Expert Review Green Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) enal insufficiency;renal failure;Fabry disease, 301500 28006774;15861341;15100373 False 3 0;100;0 1.22 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLI3 gene GLI3 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pallister-Hall syndrome;Pallister-Hall syndrome 146510 False 3 100;0;0 1.22 False ENSG00000106571 ENSG00000106571 HGNC:4319 GRIP1 gene GRIP1 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal isolated CAKUT;Fraser syndrome;Fraser syndrome 219000 24700879;24357607;14730302;22510445 False 3 100;0;0 1.22 False ENSG00000155974 ENSG00000155974 HGNC:18708 HAAO gene HAAO Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital malformations;VACTERL-like phenotype 27604308;17334708;28792876 False 3 0;0;0 1.22 False ENSG00000162882 ENSG00000162882 HGNC:4796 HNF1B gene HNF1B Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome 137920;Diabetes mellitus, noninsulin-dependent 125853;{Renal cell carcinoma} 144700;Diabetes mellitus, noninsulin-dependent;Renal cysts and diabetes syndrome 12012276;PMID: 11562418;15085338 False 3 100;0;0 1.22 False ENSG00000108753 ENSG00000275410 HGNC:11630 HPSE2 gene HPSE2 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 1 236730;Urofacial Syndrome;Congenital bladder disease: dyssynergic, high pressure bladder 20560209;20560210 False 3 100;0;0 1.22 False ENSG00000172987 ENSG00000172987 HGNC:18374 INF2 gene INF2 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 5 613237;Charcot-Marie-Tooth disease, dominant intermediate E 614455 False 3 0;0;0 1.22 False ENSG00000203485 ENSG00000203485 HGNC:23791 INVS gene INVS Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 2, infantile 602088 False 3 100;0;0 1.22 False ENSG00000119509 ENSG00000119509 HGNC:17870 ITGA3 gene ITGA3 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748 False 3 0;0;0 1.22 False ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA8 gene ITGA8 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 1, 191830 False 3 100;0;0 1.22 False ENSG00000077943 ENSG00000077943 HGNC:6144 KYNU gene KYNU Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism);VACTERL-like phenotype;multiple congenital malformations;?Hydroxykynureninuria, 236800 27604308;17334708;28792876 False 3 0;0;0 1.22 False ENSG00000115919 ENSG00000115919 HGNC:6469 LAMB2 gene LAMB2 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 5, with or without ocular abnormalities 614199;Pierson syndrome 609049 False 3 0;0;0 1.22 False ENSG00000172037 ENSG00000172037 HGNC:6487 LMX1B gene LMX1B Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome 161200 False 3 0;0;0 1.22 False ENSG00000136944 ENSG00000136944 HGNC:6654 LRIG2 gene LRIG2 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Congenital bladder disease: dyssynergic, high pressure bladder.;Urofacial syndrome 2 615112;Urofacial syndrome Stuart HM, Roberts NA, Bergu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson J, Mermerkaya M, Silay MS, Lewis MA, Olondriz BO, Gener B, Beetz C, Varga RE, G lp nar O, S er E, Yal nkaya F, G c k A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet 92:259-264, 2013. False 3 100;0;0 1.22 False ENSG00000198799 ENSG00000198799 HGNC:20889 MAPKBP1 gene MAPKBP1 Expert list;Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal NEPHRONOPHTHISIS 20 28089251 False 3 100;0;0 1.22 False ENSG00000137802 ENSG00000137802 HGNC:29536 MUC1 gene MUC1 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Medullary cystic kidney disease 1;Medullary cystic kidney disease 1, 174000 23396133;27157321;24670410;25738250 False 3 100;0;0 1.22 False ENSG00000185499 ENSG00000185499 HGNC:7508 MYH9 gene MYH9 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fechtner syndrome 153640;Epstein syndrome 153650 False 3 0;0;0 1.22 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYO1E gene MYO1E Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Glomerulosclerosis, focal segmental, 6 614131 23595123 False 3 0;0;0 1.22 False ENSG00000157483 ENSG00000157483 HGNC:7599 NPHP1 gene NPHP1 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome 4 609583;Nephronophthisis 1, juvenile 256100;Senior-Loken syndrome-1 266900 266900 False 3 100;0;0 1.22 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Renal-hepatic-pancreatic dysplasia 1, 208540;Nephronophthisis 3, 604387;Renal-Hepatic-Pancreatic Dysplasia;Meckel syndrome 7, 267010;Nephronophthisis 3, 604387;Renal-hepatic-pancreatic dysplasia 1, 208540;Meckel syndrome 7, 267010 False 3 100;0;0 1.22 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 4 606966;Senior-Loken syndrome 4 606996 False 3 100;0;0 1.22 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 1 256300 False 3 0;0;0 1.22 False ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 2 600995 False 3 0;0;0 1.22 False ENSG00000116218 ENSG00000116218 HGNC:13394 NUP107 gene NUP107 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 11 616730 26411495 False 3 100;0;0 1.22 False ENSG00000111581 ENSG00000111581 HGNC:29914 NUP93 gene NUP93 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 12 616892 26878725 False 3 0;0;0 1.22 False ENSG00000102900 ENSG00000102900 HGNC:28958 OFD1 gene OFD1 Expert Review Green Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Joubert syndrome 10 300804;Simpson-Golabi-Behmel syndrome, type 2 300209 XLR 16783569;15221448;11179005 False 3 100;0;0 1.22 False ENSG00000046651 ENSG00000046651 HGNC:2567 PAX2 gene PAX2 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Papillorenal syndrome;Papillorenal syndrome, 120330;Glomerulosclerosis, focal segmental, 7;Glomerulosclerosis, focal segmental, 7 616002;RENAL-COLOBOMA SYNDROME False 3 100;0;0 1.22 False ENSG00000075891 ENSG00000075891 HGNC:8616 PBX1 gene PBX1 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAKUT 28566479;28270404 False 3 0;0;100 1.22 False ENSG00000185630 ENSG00000185630 HGNC:8632 PKD1 gene PKD1 Expert Review Green Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease, adult type I, 173900;Autosomal recessive polycystic kidney disease (ARPKD);Autosomal dominant polycystic kidney disease (ADPKD) 19165178;20558538;22034641;28378423;23624871 False 3 100;0;0 1.22 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal Dominant Polycystic Kidney Disease;Polycystic kidney disease 2, 613095;Polycystic Kidney Disease, Autosomal Dominant 18635443;21719175;22114106;28356211;23431072 False 3 100;0;0 1.22 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Autosomal Recessive Polycystic Kidney Disease;Polycystic Kidney Disease, Autosomal Recessive;Polycystic kidney and hepatic disease, 263200 False 3 100;0;0 1.22 False ENSG00000170927 ENSG00000170927 HGNC:9016 PLCE1 gene PLCE1 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 3 610725 False 3 0;0;0 1.22 False ENSG00000138193 ENSG00000138193 HGNC:17175 REN gene REN Expert Review Green Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal Tubular Dysgenesis;[Hyperproreninemia];Hyperuricemic nephropathy, familial juvenile 2613092;Renal tubular dysgenesis 267430 False 3 100;0;0 1.22 False ENSG00000143839 ENSG00000143839 HGNC:9958 RET gene RET Expert Review Green Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multiple endocrine neoplasia IIA, 171400;Central hypoventilation syndrome, congenital, 209880;Pheochromocytoma, 171300;Renal agenesis, 191830;Multiple endocrine neoplasia IIB, 162300;Multiple endocrine neoplasia IIA, 171400;Medullary thyroid carcinoma, 155240;Multiple endocrine neoplasia IIB, 162300;Central hypoventilation syndrome, congenital, 209880;Pheochromocytoma, 171300;Renal agenesis, 191830;{Hirschsprung disease, susceptibility to, 1}, 142623;Medullary thyroid carcinoma, 155240;{Hirschsprung disease, susceptibility to, 1}, 142623;Renal Adysplasia False 3 100;0;0 1.22 False ENSG00000165731 ENSG00000165731 HGNC:9967 RPGRIP1L gene RPGRIP1L Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;COACH syndrome 216360;Joubert syndrome 7 611560;Meckel syndrome 5 611561 False 3 100;0;0 1.22 False ENSG00000103494 ENSG00000103494 HGNC:29168 RRM2B gene RRM2B Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075;Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 False 3 100;0;0 1.22 False ENSG00000048392 ENSG00000048392 HGNC:17296 SALL1 gene SALL1 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted imperforate anus, ear abnormalities, thumb abnormalities;Townes-Brocks branchiootorenal-like syndrome, 107480;Townes-Brocks syndrome, 107480 False 3 100;0;0 1.22 False ENSG00000103449 ENSG00000103449 HGNC:10524 SCARB2 gene SCARB2 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 4, with or without renal failure 254900 False 3 0;0;0 1.22 False ENSG00000138760 ENSG00000138760 HGNC:1665 SGPL1 gene SGPL1 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 14 617575 28165339;28165343;28181337 False 3 100;0;0 1.22 False ENSG00000166224 ENSG00000166224 HGNC:10817 SIX5 gene SIX5 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, 610896 False 3 100;0;0 1.22 False ENSG00000177045 ENSG00000177045 HGNC:10891 SMARCAL1 gene SMARCAL1 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia 242900 False 3 0;0;0 1.22 False ENSG00000138375 ENSG00000138375 HGNC:11102 TBX18 gene TBX18 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital anomalies of kidney and urinary tract 2 143400 False 3 67;0;33 1.22 False ENSG00000112837 ENSG00000112837 HGNC:11595 TMEM67 gene TMEM67 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;COACH syndrome 216360;Nephronophthisis 11 613550;Joubert syndrome 6 610688;Meckel syndrome 3 607361;{Bardet-Biedl syndrome 14, modifier of} 615991 {Bardet-Biedl syndrome 14, modifier of};613550 False 3 100;0;0 1.22 False ENSG00000164953 ENSG00000164953 HGNC:28396 TRAP1 gene TRAP1 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal VACTERL 192350;CAKUT 24152966 False 3 100;0;0 1.22 False ENSG00000126602 ENSG00000126602 HGNC:16264 TRPC6 gene TRPC6 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 2 603965 False 3 0;0;0 1.22 False ENSG00000137672 ENSG00000137672 HGNC:12338 TSC1 gene TSC1 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-1 191100 9242607 False 3 100;0;0 1.22 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-2 613254 False 3 100;0;0 1.22 False ENSG00000103197 ENSG00000103197 HGNC:12363 TTC21B gene TTC21B Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 12 613820 False 3 100;0;0 1.22 False ENSG00000123607 ENSG00000123607 HGNC:25660 UMOD gene UMOD Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886;Medullary cystic kidney disease 2 603860;Hyperuricemic nephropathy, familial juvenile 1, 162000;Medullary Cystic Kidney Disease 2;Hyperuricemic nephropathy, familial juvenile 1 162000;Uromodulin-associated kidney disease False 3 67;0;33 1.22 False ENSG00000169344 ENSG00000169344 HGNC:12559 VHL gene VHL Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown von Hippel-Lindau syndrome 193300 False 3 100;0;0 1.22 False ENSG00000134086 ENSG00000134086 HGNC:12687 VPS33B gene VPS33B Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis;Arthrogryposis, renal dysfunction, and cholestasis 1, 208085;Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome;Arthrogryposis, renal dysfunction, and cholestasis 1 False 3 100;0;0 1.22 False ENSG00000184056 ENSG00000184056 HGNC:12712 WDR19 gene WDR19 Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 13;Senior-Loken 24504730, 25726036, 23683095, 22019273 False 3 100;0;0 1.22 False ENSG00000157796 ENSG00000157796 HGNC:18340 WT1 gene WT1 Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrotic syndrome, type 4 256370 False 3 0;0;0 1.22 False ENSG00000184937 ENSG00000184937 HGNC:12796 CEP290 gene CEP290 Expert Review Amber Renal and urinary tract disorders Unknown Ciliopathy genes associated with cystic kidney disease False 2 100;0;0 1.22 False ENSG00000198707 ENSG00000198707 HGNC:29021 ISCA-37401-Loss region Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 194072;Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome False 3 0;0;0 1.22 False 11 31781961 32489442 3 60 cnv_loss 11p13 (WAGR syndrome) region Loss ISCA-37405-Loss region Expert Review Green Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal 609583;juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities;266900 8852662;15138899;9856524 False 3 0;0;0 1.22 False 2 110104531 110228181 30 60 cnv_loss 2q13 recurrent region (includes NPHP1) Loss ISCA-37432-Loss region Expert Review Green Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autism Spectrum Disorder;global developmental delay;RCAD syndrome;delayed development, intellectual disability;Chromosome 17q12 deletion syndrome;utero-vaginal atresia;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;Schizophrenia;614527;Renal cysts and diabetes syndrome False 3 0;0;0 1.22 False 17 36458167 37854616 3 60 cnv_loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss