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;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal Tubular Dysgenesis 267430 False 3 0;0;0 1.125 False ENSG00000159640 ENSG00000159640 HGNC:2707 ACTG2 gene ACTG2 Expert Review;Expert Review Green Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310" 25998219 False 3 0;0;0 1.125 False ENSG00000163017 ENSG00000163017 HGNC:145 ACTN4 gene ACTN4 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Glomerulosclerosis, focal segmental, 1 603278" 10700177;26301083;16251236 False 3 0;0;0 1.125 False ENSG00000130402 ENSG00000130402 HGNC:166 AGT gene AGT Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, 267430 False 3 0;0;0 1.125 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, 267430 False 3 0;0;0 1.125 False ENSG00000144891 ENSG00000144891 HGNC:336 AMN gene AMN Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Megaloblastic anemia-1, Norwegian type 261100" 12590260 False 3 0;0;0 1.125 False ENSG00000166126 ENSG00000166126 HGNC:14604 ANKS6 gene ANKS6 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Nephronophthisis 16 615382" False 3 0;0;0 1.125 False ENSG00000165138 ENSG00000165138 HGNC:26724 ARHGDIA gene ARHGDIA Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Nephrotic syndrome, type 8 615244" False 3 0;0;0 1.125 False ENSG00000141522 ENSG00000141522 HGNC:678 C3 gene C3 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Unexplained kidney failure in young people Disorders of function 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" 18796626; 15781264 False 3 0;0;0 1.125 False ENSG00000125730 ENSG00000125730 HGNC:1318 CD46 gene CD46 Expert list;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922 14615110; 14566051; 16621965 False 3 0;0;0 1.125 False ENSG00000117335 ENSG00000117335 HGNC:6953 CEP164 gene CEP164 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Nephronophthisis 15 614845" False 3 0;0;0 1.125 False ENSG00000110274 ENSG00000110274 HGNC:29182 CFB gene CFB Expert list;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Unexplained kidney failure in young people Disorders of function 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 1.125 False ENSG00000243649 ENSG00000243649 HGNC:1037 CFH gene CFH Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function 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 9551389;10803850;11170895 False 3 0;0;0 1.125 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR5 gene CFHR5 Expert Review;Expert Review Green;Literature Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted C3 glomerulopathy;C3G;Immune complex MPGN;IC-MPGN;Nephropathy due to CFHR5 deficiency, OMIM:614809;Immune-complex-mediated MPGN;CFHR5 nephropathy;Haematuria;Chronic Kidney Disease;Proteinuria;End stage renal disease 20800271;21566112;30844074;28729035;32928961;24067434;27490940;33753502;30197990;24067434 False 3 100;0;0 1.125 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000134389 ENSG00000134389 HGNC:24668 CFI gene CFI Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923;Complement factor I deficiency, OMIM:610984 15173250;16621965;17018561;10352206 False 3 0;0;0 1.125 False ENSG00000205403 ENSG00000205403 HGNC:5394 CHD7 gene CHD7 Emory Genetics Laboratory;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome 214800 False 3 0;0;0 1.125 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHRM3 gene CHRM3 Expert Review;Expert Review Green Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Prune belly syndrome, OMIM:100100;Megacystis;Urinary Bladder Disease 10944224;22077972;31441039 False 3 0;0;0 1.125 False ENSG00000133019 ENSG00000133019 HGNC:1952 CLCN5 gene CLCN5 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease, 300009; Nephrolithiasis, type I, 310468; Hypophosphatemic rickets, 300554; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 False 3 0;0;0 1.125 False ENSG00000171365 ENSG00000171365 HGNC:2023 COL4A3 gene COL4A3 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Alport syndrome, autosomal recessive, 203780;Hematuria, benign familial, 141200;Alport syndrome, autosomal dominant, 104200 25381091 False 3 0;0;0 1.125 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Alport syndrome 2, autosomal recessive, OMIM:203780;Hematuria,familial benign, OMIM:141200 25381091 False 3 0;0;0 1.125 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function 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 1.125 False ENSG00000188153 ENSG00000188153 HGNC:2207 COQ2 gene COQ2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426 False 3 0;0;0 1.125 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ6 gene COQ6 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6 614650 False 3 0;0;0 1.125 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8B gene COQ8B Expert Review;Expert Review Green Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9 615573 24270420 False 3 100;0;0 1.125 True ENSG00000123815 ENSG00000123815 HGNC:19041 CTNS gene CTNS Emory Genetics Laboratory;Expert Review;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cystinosis, atypical nephropathic 219800;Cystinosis, late-onset juvenile or adolescent nephropathic 219900;Cystinosis, nephropathic 219800 27604308; 9537412; 19863563 False 3 100;0;0 1.125 False ENSG00000040531 ENSG00000040531 HGNC:2518 CUBN gene CUBN Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100 10080186;21903995;21208123 False 3 0;0;0 1.125 False ENSG00000107611 ENSG00000107611 HGNC:2548 DGKE gene DGKE Emory Genetics Laboratory;Expert list;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 7 615008; {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008 23542698; 23274426 False 3 0;0;0 1.125 False ENSG00000153933 ENSG00000153933 HGNC:2852 DSTYK gene DSTYK Expert list;Expert Review Green Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Congenital anomalies of kidney and urinary tract, susceptibility to} 610805" False 3 0;0;100 1.125 False ENSG00000133059 ENSG00000133059 HGNC:29043 EYA1 gene EYA1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Branchiootorenal syndrome 1, with or without cataracts 113650" False 3 0;0;0 1.125 False ENSG00000104313 ENSG00000104313 HGNC:3519 FAN1 gene FAN1 Expert list;Expert Review Green Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal interstitial nephritis;chronic kidney disease;Interstitial nephritis, karyomegalic 614817 22772369 False 3 100;0;0 1.125 False ENSG00000198690 ENSG00000198690 HGNC:29170 FRAS1 gene FRAS1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 219000 False 3 0;0;0 1.125 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bifid nose with or without anorectal and renal anomalies, 608980 PMID: 24700879 False 3 0;0;0 1.125 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 219000 False 3 0;0;0 1.125 False ENSG00000150893 ENSG00000150893 HGNC:25396 GATA3 gene GATA3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 False 3 0;0;0 1.125 False ENSG00000107485 ENSG00000107485 HGNC:4172 GLA gene GLA Expert;Expert Review Green Unexplained kidney failure in young people Disorders of function 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) renal insufficiency;renal failure;Fabry disease, 301500 28006774;15861341;15100373 False 3 0;0;0 1.125 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLI3 gene GLI3 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pallister-Hall syndrome, OMIM:146510 False 3 0;0;0 1.125 False ENSG00000106571 ENSG00000106571 HGNC:4319 GRIP1 gene GRIP1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 219000 22510445;24700879;14730302;24357607 False 3 0;0;0 1.125 False ENSG00000155974 ENSG00000155974 HGNC:18708 HNF1B gene HNF1B Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Other;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diabetes mellitus, noninsulin-dependent 125853;Renal cysts and diabetes syndrome 137920;{Renal cell carcinoma} 144700" False 3 0;0;0 1.125 False ENSG00000108753 ENSG00000275410 HGNC:11630 HPSE2 gene HPSE2 Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 1 236730 20560210;20560209 False 3 0;0;0 1.125 False ENSG00000172987 ENSG00000172987 HGNC:18374 INF2 gene INF2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, dominant intermediate E 614455;Glomerulosclerosis, focal segmental, 5 613237 False 3 0;0;0 1.125 False ENSG00000203485 ENSG00000203485 HGNC:23791 INVS gene INVS Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile 602088 False 3 0;0;0 1.125 False ENSG00000119509 ENSG00000119509 HGNC:17870 ITGA3 gene ITGA3 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748 False 3 0;0;0 1.125 False ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA8 gene ITGA8 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 1, 191830 False 3 0;0;0 1.125 False ENSG00000077943 ENSG00000077943 HGNC:6144 LAMB2 gene LAMB2 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function 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 1.125 False ENSG00000172037 ENSG00000172037 HGNC:6487 LMX1B gene LMX1B Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome 161200 False 3 0;0;0 1.125 False ENSG00000136944 ENSG00000136944 HGNC:6654 LRIG2 gene LRIG2 Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 2 615112 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 0;0;0 1.125 False ENSG00000198799 ENSG00000198799 HGNC:20889 MUC1 gene MUC1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Medullary cystic kidney disease 1 174000" 23396133;24670410;27157321;25738250 False 3 100;0;0 1.125 False ENSG00000185499 ENSG00000185499 HGNC:7508 MYH9 gene MYH9 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epstein syndrome 153650;Fechtner syndrome 153640 False 3 0;0;0 1.125 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYO1E gene MYO1E Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Glomerulosclerosis, focal segmental, 6 614131 23595123 False 3 0;0;0 1.125 False ENSG00000157483 ENSG00000157483 HGNC:7599 NPHP1 gene NPHP1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 4 609583;Nephronophthisis 1, juvenile 256100;Senior-Loken syndrome-1 266900" False 3 100;0;0 1.125 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 3, 604387;Renal-hepatic-pancreatic dysplasia 1, 208540;Meckel syndrome 7, 267010 False 3 0;0;0 1.125 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4 606966;Senior-Loken syndrome 4 606996 False 3 0;0;0 1.125 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 1 256300 False 3 0;0;0 1.125 False ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 2 600995 False 3 0;0;0 1.125 False ENSG00000116218 ENSG00000116218 HGNC:13394 NUP107 gene NUP107 Expert Review Green;Literature Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 11 616730 26411495 False 3 100;0;0 1.125 False ENSG00000111581 ENSG00000111581 HGNC:29914 NUP93 gene NUP93 Expert Review Green;Literature Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 12 616892 26878725 False 3 0;0;0 1.125 False ENSG00000102900 ENSG00000102900 HGNC:28958 OFD1 gene OFD1 Expert list;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function 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 1.125 False ENSG00000046651 ENSG00000046651 HGNC:2567 PAX2 gene PAX2 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Glomerulosclerosis, focal segmental, 7 616002;Papillorenal syndrome 120330" False 3 0;0;0 1.125 False ENSG00000075891 ENSG00000075891 HGNC:8616 PKD1 gene PKD1 Expert list;Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function 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;23624871 False 3 0;0;0 1.125 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 2, 613095 18635443;21719175;22114106 False 3 0;0;0 1.125 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200 False 3 0;0;0 1.125 False ENSG00000170927 ENSG00000170927 HGNC:9016 PLCE1 gene PLCE1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 3 610725 False 3 0;0;0 1.125 False ENSG00000138193 ENSG00000138193 HGNC:17175 REN gene REN Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hyperuricemic nephropathy, familial juvenile 2 613092;Renal tubular dysgenesis 267430;[Hyperproreninemia]" False 3 0;0;0 1.125 False ENSG00000143839 ENSG00000143839 HGNC:9958 RPGRIP1L gene RPGRIP1L Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome 216360;Joubert syndrome 7 611560;Meckel syndrome 5 611561 False 3 0;0;0 1.125 False ENSG00000103494 ENSG00000103494 HGNC:29168 RRM2B gene RRM2B Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 False 3 0;0;0 1.125 False ENSG00000048392 ENSG00000048392 HGNC:17296 SALL1 gene SALL1 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome, 107480;Townes-Brocks branchiootorenal-like syndrome, 107480 False 3 0;0;0 1.125 False ENSG00000103449 ENSG00000103449 HGNC:10524 SARS2 gene SARS2 Expert Review Green;Literature Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845;Progressive Spastic Paresis 21255763;24034276;27279129 False 3 100;0;0 1.125 False ENSG00000104835 ENSG00000104835 HGNC:17697 SCARB2 gene SCARB2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 4, with or without renal failure 254900 False 3 0;0;0 1.125 False ENSG00000138760 ENSG00000138760 HGNC:1665 SGPL1 gene SGPL1 Expert Review Green;Literature Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 14 617575 28181337; 28165339; 28165343 False 3 100;0;0 1.125 False ENSG00000166224 ENSG00000166224 HGNC:10817 SMARCAL1 gene SMARCAL1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, OMIM:242900 False 3 0;0;0 1.125 False ENSG00000138375 ENSG00000138375 HGNC:11102 TBX18 gene TBX18 Expert list;Expert Review Green Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital anomalies of kidney and urinary tract 2 143400 False 3 0;0;0 1.125 False ENSG00000112837 ENSG00000112837 HGNC:11595 TMEM67 gene TMEM67 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome 216360;Joubert syndrome 6 610688;Meckel syndrome 3 607361;Nephronophthisis 11 613550;{Bardet-Biedl syndrome 14, modifier of} 615991 False 3 0;0;0 1.125 False ENSG00000164953 ENSG00000164953 HGNC:28396 TRAP1 gene TRAP1 Expert list;Expert Review Green Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal CAKUT;VACTERL 192350 24152966 False 3 0;0;0 1.125 False ENSG00000126602 ENSG00000126602 HGNC:16264 TRIM8 gene TRIM8 Expert Review Green;Literature Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted nephrotic syndrome;epilepsy;Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428 33508234;32531461;32193649;33508234 False 3 100;0;0 1.125 False Other ENSG00000171206 ENSG00000171206 HGNC:15579 TRPC6 gene TRPC6 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 2 603965 False 3 0;0;0 1.125 False ENSG00000137672 ENSG00000137672 HGNC:12338 TSC1 gene TSC1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-1 191100 False 3 0;0;0 1.125 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-2 613254 False 3 0;0;0 1.125 False ENSG00000103197 ENSG00000103197 HGNC:12363 TTC21B gene TTC21B Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12 613820 False 3 0;0;0 1.125 False ENSG00000123607 ENSG00000123607 HGNC:25660 UMOD gene UMOD Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886;Hyperuricemic nephropathy, familial juvenile 1 162000;Medullary cystic kidney disease 2 603860 False 3 0;0;0 1.125 False ENSG00000169344 ENSG00000169344 HGNC:12559 VHL gene VHL Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown von Hippel-Lindau syndrome 193300 False 3 0;0;0 1.125 False ENSG00000134086 ENSG00000134086 HGNC:12687 VIPAS39 gene VIPAS39 Expert Review Green;Radboud University Medical Center, Nijmegen Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404;ARC syndrome 20190753 False 3 100;0;0 1.125 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1 208085 False 3 0;0;0 1.125 False ENSG00000184056 ENSG00000184056 HGNC:12712 WT1 gene WT1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrotic syndrome, type 4 256370 False 3 0;0;0 1.125 False ENSG00000184937 ENSG00000184937 HGNC:12796 XPNPEP3 gene XPNPEP3 Expert;Expert Review Green Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 3 0;0;0 1.125 False ENSG00000196236 ENSG00000196236 HGNC:28052 APRT gene APRT Expert list;Expert Review Amber Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal interstitial nephritis;chronic kidney disease;end stage renal disease;nephrolithiaisis;Adenine phosphoribosyltransferase deficiency 614723 30355577;30106368;25307253;22212387 False 2 100;0;0 1.125 False ENSG00000198931 ENSG00000198931 HGNC:626 CD151 gene CD151 Eligibility statement prior genetic testing;Expert Review Amber Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephropathy with pretibial epidermolysis bullosa and deafness 609057 15265795;29138120;17015618 False 2 0;0;0 1.125 False ENSG00000177697 ENSG00000177697 HGNC:1630 ISCA-37401-Loss region Expert Review Green;ClinGen Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome;194072 False 3 0;0;0 1.125 False 11 31781961 32489442 3 60 cnv_loss 11p13 (WAGR syndrome) region Loss ISCA-37405-Loss region Expert Review Green;ClinGen Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal 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;609583 9856524;15138899;8852662 False 3 0;0;0 1.125 False 2 110104531 110228181 30 60 cnv_loss 2q13 recurrent region (includes NPHP1) Loss ISCA-37432-Loss region Expert Review Green;ClinGen Unexplained kidney failure in young people Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RCAD syndrome;utero-vaginal atresia;Schizophrenia;614527;delayed development, intellectual disability;Renal cysts and diabetes syndrome;Autism Spectrum Disorder;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;Chromosome 17q12 deletion syndrome;global developmental delay False 3 0;0;0 1.125 False 17 36458167 37854616 3 60 cnv_loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss