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 Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Renal Tubular Dysgenesis;{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;Renal Tubular Dysgenesis 267430 False 3 67;33;0 3.39 False ENSG00000159640 ENSG00000159640 HGNC:2707 ACTG2 gene ACTG2 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Berdon syndrome;visceral myopathy;Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310;Megacystis-microcolon intestinal hypoperistalsis syndrome PMID: 25998219 False 3 50;50;0 3.39 False ENSG00000163017 ENSG00000163017 HGNC:145 ACTN4 gene ACTN4 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 1 603278 26301083;16251236;10700177 False 3 0;100;0 3.39 False ENSG00000130402 ENSG00000130402 HGNC:166 AGT gene AGT Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Renal Tubular Dysgenesis;{Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430;Renal tubular dysgenesis, 267430 False 3 67;33;0 3.39 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Renal Tubular Dysgenesis;Renal tubular dysgenesis, 267430;Hypertension, essential, 145500 False 3 67;33;0 3.39 False ENSG00000144891 ENSG00000144891 HGNC:336 AGXT gene AGXT Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1, 259900;Primary Hyperoxaluria;Hyperoxaluria;primary hyperoxaluria;Primary Hyperoxaluria Type 1 False 3 50;50;0 3.39 False ENSG00000172482 ENSG00000172482 HGNC:341 AHI1 gene AHI1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome-3 608629 16155189 False 3 50;50;0 3.39 False ENSG00000135541 ENSG00000135541 HGNC:21575 ALMS1 gene ALMS1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Alstrom Syndrome;Bardet-Biedl Syndrome;203800;Alstrom syndrome 22773737 False 3 0;100;0 3.39 False ENSG00000116127 ENSG00000116127 HGNC:428 AMN gene AMN Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Norwegian type 261100 12590260 False 3 0;100;0 3.39 False ENSG00000166126 ENSG00000166126 HGNC:14604 ANKS6 gene ANKS6 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 16 615382;Ciliopathy genes associated with cystic kidney disease False 3 50;50;0 3.39 False ENSG00000165138 ENSG00000165138 HGNC:26724 ANOS1 gene ANOS1 Expert Review Green Unexplained young onset end-stage renal disease X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1);Kallman syndrome 9719154;11531922 False 3 50;25;25 3.39 False ENSG00000011201 ENSG00000011201 HGNC:6211 ARHGDIA gene ARHGDIA Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 8 615244 False 3 0;100;0 3.39 False ENSG00000141522 ENSG00000141522 HGNC:678 ARL13B gene ARL13B Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome type 8 612291 18674751, 25138100 False 3 0;50;50 3.39 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Bardel-Biedl syndrome type 3 600151 15258860 False 3 50;50;0 3.39 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, 617622 28625504 False 3 50;50;0 3.39 False ENSG00000135931 ENSG00000135931 HGNC:20730 B9D2 gene B9D2 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 21763481;26092869 False 3 50;50;0 3.39 False ENSG00000123810 ENSG00000123810 HGNC:28636 BBS1 gene BBS1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854 12524598 False 3 50;50;0 3.39 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Bardet-Biedl syndrome 10 615987 16582908 False 3 50;50;0 3.39 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Bardet-Biedl syndrome 12 615989 17160889 False 3 50;50;0 3.39 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Bardet-Biedl syndrome 2 615981 18203199 False 3 50;50;0 3.39 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Bardet-Biedl syndrome 4 615982 11381270 False 3 50;50;0 3.39 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Bardet-Biedl syndrome 5 615983 18203199 False 3 50;50;0 3.39 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 7 12567324 False 3 50;50;0 3.39 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Bardet-Biedl syndrome 9 615986 16380913 False 3 50;50;0 3.39 False ENSG00000122507 ENSG00000122507 HGNC:30000 BNC2 gene BNC2 Expert Review Green;Other Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Posterior urethral valves;PUV;Congenital lower urinary-tract obstruction;Lower urinary tract obstruction, congenital, 618612 31051115 False 3 33;33;33 3.39 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 BSND gene BSND Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a, 602522;Sensorineural deafness with mild renal dysfunction, 602522 11687798 False 3 33;33;33 3.39 False ENSG00000162399 ENSG00000162399 HGNC:16512 C3 gene C3 Expert Review Green Unexplained young onset end-stage renal disease 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;100;0 3.39 False ENSG00000125730 ENSG00000125730 HGNC:1318 C5orf42 gene C5orf42 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome 17 614615 22425360 False 3 50;50;0 3.39 False ENSG00000197603 ENSG00000197603 HGNC:25801 CC2D2A gene CC2D2A Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome 9 612285;Meckel syndrome 6 612284 19777577 False 3 50;50;0 3.39 False ENSG00000048342 ENSG00000048342 HGNC:29253 CD46 gene CD46 Expert Review Green Unexplained young onset end-stage renal disease BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922 14566051;16621965;14615110 False 3 0;100;0 3.39 False ENSG00000117335 ENSG00000117335 HGNC:6953 CENPF gene CENPF Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, 243605;Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome 26820108 False 3 50;50;0 3.39 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP104 gene CEP104 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25;Joubert syndrome 25, 616781 26477546 False 3 50;50;0 3.39 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP164 gene CEP164 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 15 614845 False 3 50;50;0 3.39 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome 5 610188lLeber congenital amaurosis 10 611755 19764032 False 3 67;33;0 3.39 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome 15 614464 False 3 50;50;0 3.39 False ENSG00000106477 ENSG00000106477 HGNC:12370 CEP83 gene CEP83 Expert list;Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal NEPHRONOPHTHISIS 18 24882706 False 3 0;100;0 3.39 False ENSG00000173588 ENSG00000173588 HGNC:17966 CFB gene CFB Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924 17182750;20108004 False 3 0;100;0 3.39 False ENSG00000243649 ENSG00000243649 HGNC:1037 CFH gene CFH Expert Review Green Unexplained young onset end-stage renal disease BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400;Complement factor H deficiency 609814 False 3 0;100;0 3.39 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR1 gene CFHR1 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BOTH monoallelic and biallelic, autosomal or pseudoautosomal IC-MPGN;Immune-complex-mediated MPGN;C3 glomerulopathy;Immune complex MPGN;Hemolytic uremic syndrome, atypical, susceptibility to, 235400;C3G 20800271;16998489;23728178;24172683;27458560;24334459;17367211 False 3 50;50;0 3.39 False ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR3 gene CFHR3 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to 235400 16998489;17367211 False 3 50;50;0 3.39 False ENSG00000116785 ENSG00000116785 HGNC:16980 CFHR5 gene CFHR5 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Haematuria;macroscopic haematuria;kidney failure;C3 glomerulopathy 20800271;24067434 False 3 0;100;0 3.39 False ENSG00000134389 ENSG00000134389 HGNC:24668 CFI gene CFI Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923;Complement factor I deficiency, OMIM:610984 16621965;15173250;17018561;10352206 False 3 0;100;0 3.39 False ENSG00000205403 ENSG00000205403 HGNC:5394 CHD7 gene CHD7 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome 214800 False 3 50;50;0 3.39 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHRM3 gene CHRM3 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Prune belly syndrome, OMIM:100100;Megacystis;Urinary Bladder Disease 10944224;22077972;31441039 False 3 50;25;25 3.39 False ENSG00000133019 ENSG00000133019 HGNC:1952 CLCN5 gene CLCN5 Expert Review Green Unexplained young onset end-stage renal disease X-LINKED: hemizygous mutation in males, biallelic mutations in females Nephrolithiasis, type I, 310468;Dent disease, 300009;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990;Hypophosphatemic rickets, 300554 False 3 0;100;0 3.39 False ENSG00000171365 ENSG00000171365 HGNC:2023 COL4A1 gene COL4A1 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted raised creatinine kinase;tortuous retinal vessels;intracranial anuerysms;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773;Exophytic renal cysts;haematuria 20818663;18160688 False 3 50;50;0 3.39 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A3 gene COL4A3 Expert Review Green Unexplained young onset end-stage renal disease BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Alport syndrome, autosomal recessive, 203780;Alport syndrome, autosomal dominant, 104200;Hematuria, benign familial, 141200 25381091 False 3 0;100;0 3.39 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Green Unexplained young onset end-stage renal disease BOTH monoallelic and biallelic, autosomal or pseudoautosomal Alport syndrome 2, autosomal recessive, OMIM:203780;Hematuria,familial benign, OMIM:141200 25381091 False 3 0;100;0 3.39 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert Review Green Unexplained young onset end-stage renal disease 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;100;0 3.39 False ENSG00000188153 ENSG00000188153 HGNC:2207 COQ2 gene COQ2 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426 False 3 0;100;0 3.39 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ6 gene COQ6 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6 614650 False 3 0;100;0 3.39 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8B gene COQ8B Expert Review;Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9 615573 24270420 False 3 50;50;0 3.39 False ENSG00000123815 ENSG00000123815 HGNC:19041 CRB2 gene CRB2 Expert Review Green;Other Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease 219730 25557780;30586318) False 3 0;0;0 3.39 False ENSG00000148204 ENSG00000148204 HGNC:18688 CSPP1 gene CSPP1 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 21;Joubert syndrome;Meckel-Gruber syndrome 24360807;24360803;24360808 False 3 50;50;0 3.39 False ENSG00000104218 ENSG00000104218 HGNC:26193 CTNS gene CTNS Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Cystinosis, atypical nephropathic 219800;Cystinosis, nephropathic 219800;Cystinosis, late-onset juvenile or adolescent nephropathic 219900 27604308;19863563;9537412 False 3 50;50;0 3.39 False ENSG00000040531 ENSG00000040531 HGNC:2518 CUBN gene CUBN Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100 21208123;21903995;10080186 False 3 0;100;0 3.39 False ENSG00000107611 ENSG00000107611 HGNC:2548 DDX59 gene DDX59 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal 29127725;28711741;23972372 False 3 50;50;0 3.39 False ENSG00000118197 ENSG00000118197 HGNC:25360 DGKE gene DGKE Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 7 615008;{Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008 23274426;23542698 False 3 0;100;0 3.39 False ENSG00000153933 ENSG00000153933 HGNC:2852 DHCR7 gene DHCR7 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 9634533 False 3 50;50;0 3.39 False ENSG00000172893 ENSG00000172893 HGNC:2860 DLC1 gene DLC1 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Childhood and adult SSNS and SRNS 29773874 False 3 50;50;0 3.39 False ENSG00000164741 ENSG00000164741 HGNC:2897 DNAJB11 gene DNAJB11 Expert Review Green;Other Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease;Tubulointerstitial kidney disease;cystic kidney disease;non-enlarged kidney;end stage renal failure 29706351 False 3 67;33;0 3.39 False ENSG00000090520 ENSG00000090520 HGNC:14889 DSTYK gene DSTYK Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia;{Congenital anomalies of kidney and urinary tract, susceptibility to};CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1;ureteropelvic junction obstruction;{Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805;vesicoureteric reflux False 3 50;25;25 3.39 False ENSG00000133059 ENSG00000133059 HGNC:29043 DYNC2H1 gene DYNC2H1 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 False 3 50;50;0 3.39 False ENSG00000187240 ENSG00000187240 HGNC:2962 DZIP1L gene DZIP1L Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal ARPKD;Polycystic kidney disease 5 617610 28530676 False 3 50;50;0 3.39 False Other - please provide details in the comments ENSG00000158163 ENSG00000158163 HGNC:26551 EYA1 gene EYA1 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 1, with or without cataracts, 113650;Otofaciocervical syndrome, 166780;Branchiootic syndrome 1, 602588;Branchiootorenal syndrome 1, with or without cataracts;Branchiootorenal Spectrum Disorders;Anterior segment anomalies with or without cataract, 113650 False 3 75;25;0 3.39 False ENSG00000104313 ENSG00000104313 HGNC:3519 FAN1 gene FAN1 Expert Review;Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal interstitial nephritis;chronic kidney disease;Interstitial nephritis, karyomegalic, OMIM:614817;karyomegalic interstitial nephritis, MONDO:0013898 22772369;35931300 False 3 100;0;0 3.39 False ENSG00000198690 ENSG00000198690 HGNC:29170 FAT1 gene FAT1 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Glomerulotubular nephropathy 26905694 False 3 50;50;0 3.39 False ENSG00000083857 ENSG00000083857 HGNC:3595 FRAS1 gene FRAS1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 219000;Fraser syndrome False 3 75;25;0 3.39 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Bifid nose with or without anorectal and renal anomalies, 608980 PMID: 24700879 False 3 67;33;0 3.39 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 219000;Fraser syndrome False 3 67;33;0 3.39 False ENSG00000150893 ENSG00000150893 HGNC:25396 GANAB gene GANAB Expert Review Green Unexplained young onset end-stage renal disease 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 67;33;0 3.39 False ENSG00000089597 ENSG00000089597 HGNC:4138 GATA3 gene GATA3 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255;Hypoparathyroidism, Sensorineural Deafness, and Renal Disease False 3 67;33;0 3.39 False ENSG00000107485 ENSG00000107485 HGNC:4172 GATM gene GATM Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 1, OMIM:134600 29654216 False 3 50;50;0 3.39 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000171766 ENSG00000171766 HGNC:4175 GLA gene GLA Expert Review Green Unexplained young onset end-stage renal disease X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, 301500;renal insufficiency;renal failure 28006774;15861341;15100373 False 3 33;67;0 3.39 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLI3 gene GLI3 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pallister-Hall syndrome;Pallister-Hall syndrome 146510 False 3 50;50;0 3.39 False ENSG00000106571 ENSG00000106571 HGNC:4319 GRHPR gene GRHPR Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Primary Hyperoxaluria;Primary Hyperoxaluria Type 2;Hyperoxaluria, primary, type II, 260000;Hyperoxaluria False 3 50;50;0 3.39 False ENSG00000137106 ENSG00000137106 HGNC:4570 GRIP1 gene GRIP1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 219000;Fraser syndrome;isolated CAKUT 24700879;14730302;24357607;22510445 False 3 50;50;0 3.39 False ENSG00000155974 ENSG00000155974 HGNC:18708 HAAO gene HAAO Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal VACTERL-like phenotype;Multiple congenital malformations 27604308;17334708;28792876 False 3 0;100;0 3.39 False ENSG00000162882 ENSG00000162882 HGNC:4796 HNF1B gene HNF1B Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, noninsulin-dependent 125853;{Renal cell carcinoma} 144700;Diabetes mellitus, noninsulin-dependent;Renal cysts and diabetes syndrome;Renal cysts and diabetes syndrome 137920 12012276;PMID: 11562418;15085338 False 3 83;17;0 3.39 False ENSG00000108753 ENSG00000275410 HGNC:11630 HOGA1 gene HOGA1 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria;Primary Hyperoxaluria;Hyperoxaluria, primary, type III, 613616 False 3 50;50;0 3.39 False ENSG00000241935 ENSG00000241935 HGNC:25155 HPSE2 gene HPSE2 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Congenital bladder disease: dyssynergic, high pressure bladder;Urofacial syndrome 1 236730;Urofacial Syndrome 20560210;20560209 False 3 67;33;0 3.39 False ENSG00000172987 ENSG00000172987 HGNC:18374 HYLS1 gene HYLS1 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome, 236680;Joubert syndrome 26830932;19656802;15843405;18648327 False 3 50;50;0 3.39 False ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 27069622;19185282;27466187 False 3 50;50;0 3.39 False ENSG00000112144 ENSG00000112144 HGNC:21219 IFT122 gene IFT122 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1, 218330;Cranioectodermal dysplasia 24689072;19000668;26792575;24027799;20493458;23826986 False 3 50;50;0 3.39 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT43 gene IFT43 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 3, 614099;Sensenbrenner syndrome;Short-rib thoracic dysplasia 18 with polydactyly, 617866 22791528;29896747;21378380;24027799;28400947;26892345 False 3 50;50;0 3.39 False ENSG00000119650 ENSG00000119650 HGNC:29669 INF2 gene INF2 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 5 613237;Charcot-Marie-Tooth disease, dominant intermediate E 614455 False 3 0;100;0 3.39 False ENSG00000203485 ENSG00000203485 HGNC:23791 INPP5E gene INPP5E Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome 1 213300 False 3 50;50;0 3.39 False ENSG00000148384 ENSG00000148384 HGNC:21474 INVS gene INVS Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile 602088;Ciliopathy genes associated with cystic kidney disease False 3 50;50;0 3.39 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Senior-Loken syndrome 5 609254 False 3 50;50;0 3.39 False ENSG00000173226 ENSG00000173226 HGNC:28949 ITGA3 gene ITGA3 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748 False 3 0;100;0 3.39 False ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA8 gene ITGA8 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 1, 191830 False 3 67;33;0 3.39 False ENSG00000077943 ENSG00000077943 HGNC:6144 ITSN1 gene ITSN1 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Early childhood SSNS 29773874 False 3 50;50;0 3.39 False ENSG00000205726 ENSG00000205726 HGNC:6183 KIAA0586 gene KIAA0586 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23;Joubert syndrome;Short-rib thoracic dysplasia 14 with polydactyly;Short-rib dysplasia 14 with polydactyly 26096313 False 3 50;50;0 3.39 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Short-rib skeletal dysplasia;?Orofaciodigital syndrome XV 617127;Joubert syndrome 26643951;29138412;28220259 False 3 50;50;0 3.39 False ENSG00000198920 ENSG00000198920 HGNC:29110 KIF7 gene KIF7 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Acrocallosal syndrome 200990;Joubert syndrome 12 200990 False 3 0;50;50 3.39 False ENSG00000166813 ENSG00000166813 HGNC:30497 KYNU gene KYNU Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal ?Hydroxykynureninuria, 236800;multiple congenital malformations;VACTERL-like phenotype;Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) 27604308;17334708;28792876 False 3 0;100;0 3.39 False ENSG00000115919 ENSG00000115919 HGNC:6469 LAGE3 gene LAGE3 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease X-LINKED: hemizygous mutation in males, biallelic mutations in females Galloway-Mowat syndrome 2, X-linked #301006 28805828 False 3 50;50;0 3.39 False ENSG00000196976 ENSG00000196976 HGNC:26058 LAMB2 gene LAMB2 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Pierson syndrome 609049;Nephrotic syndrome, type 5, with or without ocular abnormalities 614199 False 3 0;100;0 3.39 False ENSG00000172037 ENSG00000172037 HGNC:6487 LMX1B gene LMX1B Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome 161200 False 3 0;100;0 3.39 False ENSG00000136944 ENSG00000136944 HGNC:6654 LRIG2 gene LRIG2 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome;Urofacial syndrome 2 615112;Congenital bladder disease: dyssynergic, high pressure bladder. 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 67;33;0 3.39 False ENSG00000198799 ENSG00000198799 HGNC:20889 LZTFL1 gene LZTFL1 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17, 615994 27312011;23692385;22510444 False 3 50;50;0 3.39 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAGI2 gene MAGI2 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 15 617609 27932480;29773874 False 3 50;50;0 3.39 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAPKBP1 gene MAPKBP1 Expert list;Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal NEPHRONOPHTHISIS 20 28089251 False 3 0;100;0 3.39 False ENSG00000137802 ENSG00000137802 HGNC:29536 MKKS gene MKKS Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 6;236700 10802661;10973238;10973251 False 3 50;50;0 3.39 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Bardet-Biedl syndrome 13 615990;Meckel syndrome 1 249000 16415886;24886560;17377820 False 3 50;50;0 3.39 False ENSG00000011143 ENSG00000011143 HGNC:7121 MMACHC gene MMACHC Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, 277400 1593355;11972107;27324188;24210589;12210350;29068997;17874135 False 3 50;50;0 3.39 False ENSG00000132763 ENSG00000132763 HGNC:24525 MT-TF gene MT-TF Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease MITOCHONDRIAL renal insufficiency;Tubulointerstitial kidney disease;tubulointerstitial nephritis;renal failur 20142618;11231339;28267784;23135609 False 3 50;50;0 3.39 False ENSG00000210049 ENSG00000210049 HGNC:7481 MUC1 gene MUC1 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Medullary cystic kidney disease 1, 174000;Medullary cystic kidney disease 1 25738250;24670410;23396133;27157321;29156055 False 3 75;25;0 3.39 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000185499 ENSG00000185499 HGNC:7508 MYH9 gene MYH9 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epstein syndrome 153650;Fechtner syndrome 153640 False 3 0;100;0 3.39 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYO1E gene MYO1E Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Glomerulosclerosis, focal segmental, 6 614131 23595123 False 3 0;100;0 3.39 False ENSG00000157483 ENSG00000157483 HGNC:7599 NEK8 gene NEK8 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415 False 3 33;33;33 3.39 False ENSG00000160602 ENSG00000160602 HGNC:13387 NPHP1 gene NPHP1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4 609583;Ciliopathy genes associated with cystic kidney disease;Senior-Loken syndrome-1 266900;Nephronophthisis 1, juvenile 256100 34415307 False 3 67;33;0 3.39 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 7, 267010;Renal-Hepatic-Pancreatic Dysplasia;Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 3, 604387;Renal-hepatic-pancreatic dysplasia 1, 208540 False 3 75;25;0 3.39 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 4 606996;Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 4 606966 False 3 50;50;0 3.39 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 1 256300 False 3 0;100;0 3.39 False ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 2 600995 False 3 0;100;0 3.39 False ENSG00000116218 ENSG00000116218 HGNC:13394 NUP107 gene NUP107 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 11 616730 26411495 False 3 50;50;0 3.39 False ENSG00000111581 ENSG00000111581 HGNC:29914 NUP133 gene NUP133 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 18 618177;?Galloway-Mowat syndrome 8 618349 30179222;30427554 False 3 50;50;0 3.39 False ENSG00000069248 ENSG00000069248 HGNC:18016 NUP85 gene NUP85 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 17 #618176 30179222 False 3 50;50;0 3.39 False ENSG00000125450 ENSG00000125450 HGNC:8734 NUP93 gene NUP93 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 12 616892 26878725 False 3 0;100;0 3.39 False ENSG00000102900 ENSG00000102900 HGNC:28958 OCRL gene OCRL Expert Review Green Unexplained young onset end-stage renal disease X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Lowe syndrome, OMIM:309000;Dent disease 2, OMIM:300555 21249396;17384968;33517444 False 3 33;33;33 3.39 False ENSG00000122126 ENSG00000122126 HGNC:8108 OFD1 gene OFD1 Expert Review Green Unexplained young onset end-stage renal disease 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 67;33;0 3.39 False ENSG00000046651 ENSG00000046651 HGNC:2567 OSGEP gene OSGEP Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 3 617729 28805828 False 3 50;50;0 3.39 False ENSG00000092094 ENSG00000092094 HGNC:18028 PAX2 gene PAX2 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Papillorenal syndrome, 120330;RENAL-COLOBOMA SYNDROME;Papillorenal syndrome;Glomerulosclerosis, focal segmental, 7;Glomerulosclerosis, focal segmental, 7 616002 False 3 75;25;0 3.39 False ENSG00000075891 ENSG00000075891 HGNC:8616 PBX1 gene PBX1 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAKUT 28270404;28566479 False 3 0;50;50 3.39 False ENSG00000185630 ENSG00000185630 HGNC:8632 PKD1 gene PKD1 Expert Review Green Unexplained young onset end-stage renal disease 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) 28378423;19165178;22034641;20558538;23624871 False 3 50;50;0 3.39 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal Dominant Polycystic Kidney Disease;Polycystic Kidney Disease, Autosomal Dominant;Polycystic kidney disease 2, 613095 23431072;21719175;22114106;28356211;18635443 False 3 50;50;0 3.39 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Polycystic Kidney Disease, Autosomal Recessive;Polycystic kidney and hepatic disease, 263200;Autosomal Recessive Polycystic Kidney Disease False 3 50;50;0 3.39 False ENSG00000170927 ENSG00000170927 HGNC:9016 PLCE1 gene PLCE1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 3 610725 False 3 0;100;0 3.39 False ENSG00000138193 ENSG00000138193 HGNC:17175 PMM2 gene PMM2 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 9140401 False 3 0;100;0 3.39 False ENSG00000140650 ENSG00000140650 HGNC:9115 PODXL gene PODXL Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital nephrotic syndrome 29244787;30523047;24048372;28117080 False 3 50;50;0 3.39 False ENSG00000128567 ENSG00000128567 HGNC:9171 REN gene REN Expert Review Green Unexplained young onset end-stage renal disease BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal Tubular Dysgenesis;Renal tubular dysgenesis 267430;[Hyperproreninemia];Hyperuricemic nephropathy, familial juvenile 2613092 False 3 67;33;0 3.39 False ENSG00000143839 ENSG00000143839 HGNC:9958 RET gene RET Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia IIB, 162300;Central hypoventilation syndrome, congenital, 209880;Multiple endocrine neoplasia IIA, 171400;Renal agenesis, 191830;{Hirschsprung disease, susceptibility to, 1}, 142623;Pheochromocytoma, 171300;Renal Adysplasia;Medullary thyroid carcinoma, 155240 False 3 67;33;0 3.39 False ENSG00000165731 ENSG00000165731 HGNC:9967 RPGRIP1L gene RPGRIP1L Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 5 611561;Ciliopathy genes associated with cystic kidney disease;COACH syndrome 216360;Joubert syndrome 7 611560 False 3 67;33;0 3.39 False ENSG00000103494 ENSG00000103494 HGNC:29168 RRM2B gene RRM2B Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075;Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075;Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 False 3 67;33;0 3.39 False ENSG00000048392 ENSG00000048392 HGNC:17296 SALL1 gene SALL1 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted imperforate anus, ear abnormalities, thumb abnormalities;Townes-Brocks branchiootorenal-like syndrome, 107480;Townes-Brocks syndrome, 107480 False 3 67;33;0 3.39 False ENSG00000103449 ENSG00000103449 HGNC:10524 SCARB2 gene SCARB2 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 4, with or without renal failure 254900 False 3 0;100;0 3.39 False ENSG00000138760 ENSG00000138760 HGNC:1665 SDCCAG8 gene SDCCAG8 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Bardet-Biedl syndrome 16 615993;Senior-Loken syndrome 7 613615 22190896 False 3 50;50;0 3.39 False ENSG00000054282 ENSG00000054282 HGNC:10671 SEC61A1 gene SEC61A1 Expert Review Green;Other Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperuricemic nephropathy, familial juvenile, 4 617056 27392076;30586318 False 3 0;0;0 3.39 False ENSG00000058262 ENSG00000058262 HGNC:18276 SGPL1 gene SGPL1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 14 617575 28165343;28165339;28181337 False 3 50;50;0 3.39 False ENSG00000166224 ENSG00000166224 HGNC:10817 SIX5 gene SIX5 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, 610896 False 3 67;33;0 3.39 False ENSG00000177045 ENSG00000177045 HGNC:10891 SLC22A12 gene SLC22A12 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Hypouricemia, renal, 220150 18492088 False 3 50;50;0 3.39 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC2A9 gene SLC2A9 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Uric acid concentration, serum, QTL 2}, 612076;Hypouricemia, renal, 2, 612076 19026395;19926891;21810765 False 3 50;50;0 3.39 False ENSG00000109667 ENSG00000109667 HGNC:13446 SLC3A1 gene SLC3A1 Expert Review Green;Other Unexplained young onset end-stage renal disease BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cystinuria 220100 False 3 0;0;0 3.39 False ENSG00000138079 ENSG00000138079 HGNC:11025 SLC7A9 gene SLC7A9 Expert Review Green;Other Unexplained young onset end-stage renal disease BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cystinuria 220100 False 3 0;0;0 3.39 False ENSG00000021488 ENSG00000021488 HGNC:11067 SMARCAL1 gene SMARCAL1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, OMIM:242900 False 3 0;100;0 3.39 False ENSG00000138375 ENSG00000138375 HGNC:11102 TBC1D8B gene TBC1D8B Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Nephrotic syndrome, type 20, OMIM:301028 30661770 False 3 50;50;0 3.39 False ENSG00000133138 ENSG00000133138 HGNC:24715 TBX18 gene TBX18 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital anomalies of kidney and urinary tract 2 143400 False 3 50;25;25 3.39 False ENSG00000112837 ENSG00000112837 HGNC:11595 TCTN1 gene TCTN1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome 13 614173 False 3 0;100;0 3.39 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome, Meckel-Gruber syndrome;Joubert syndrome 24 21565611;25118024 False 3 50;50;0 3.39 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome 18 614815 22883145 False 3 50;50;0 3.39 False ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM107 gene TMEM107 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 29 617562;Meckel syndrome 13 617562;Orofaciodigital syndrome XVI 617563 22698544;26123494;26518474;26595381 False 3 50;50;0 3.39 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome 16 614465 22282472 False 3 50;50;0 3.39 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome 2 608091;Meckel syndrome 2 603194 20512146 False 3 50;50;0 3.39 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome 20 614970;Meckel syndrome 11 615397 23012439;23349226 False 3 50;50;0 3.39 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Joubert syndrome 14 614424 22152675 False 3 50;50;0 3.39 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 6 610688;Nephronophthisis 11 613550;Meckel syndrome 3 607361;Ciliopathy genes associated with cystic kidney disease;{Bardet-Biedl syndrome 14, modifier of} 615991;COACH syndrome 216360 {Bardet-Biedl syndrome 14, modifier of};613550 False 3 50;50;0 3.39 False ENSG00000164953 ENSG00000164953 HGNC:28396 TNS2 gene TNS2 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal nephrotic syndrome 29773874 False 3 50;50;0 3.39 False ENSG00000111077 ENSG00000111077 HGNC:19737 TP53RK gene TP53RK Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 4 #617730 28805828 False 3 50;50;0 3.39 False ENSG00000172315 ENSG00000172315 HGNC:16197 TRAF3IP1 gene TRAF3IP1 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9 616629 26487268 False 3 50;50;0 3.39 False ENSG00000204104 ENSG00000204104 HGNC:17861 TRAP1 gene TRAP1 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal CAKUT;VACTERL 192350 24152966 False 3 50;50;0 3.39 False ENSG00000126602 ENSG00000126602 HGNC:16264 TRIM8 gene TRIM8 Expert Review Green;Literature Unexplained young onset end-stage renal disease 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 3.39 False Other ENSG00000171206 ENSG00000171206 HGNC:15579 TRPC6 gene TRPC6 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 2 603965 False 3 0;100;0 3.39 False ENSG00000137672 ENSG00000137672 HGNC:12338 TSC1 gene TSC1 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-1 191100 9242607 False 3 50;50;0 3.39 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-2 613254 False 3 50;50;0 3.39 False ENSG00000103197 ENSG00000103197 HGNC:12363 TTC21B gene TTC21B Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12 613820;Ciliopathy genes associated with cystic kidney disease False 3 50;50;0 3.39 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Bardet-Biedl syndrome 8 615985 16308660;19402160 False 3 0;50;50 3.39 False ENSG00000165533 ENSG00000165533 HGNC:20087 TXNDC15 gene TXNDC15 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal MGS;Meckel-Gruber syndrome 27894351 False 3 50;50;0 3.39 False ENSG00000113621 ENSG00000113621 HGNC:20652 UMOD gene UMOD Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886;Uromodulin-associated kidney disease;Hyperuricemic nephropathy, familial juvenile 1 162000;Medullary cystic kidney disease 2 603860;Medullary Cystic Kidney Disease 2;Hyperuricemic nephropathy, familial juvenile 1, 162000 False 3 50;25;25 3.39 False ENSG00000169344 ENSG00000169344 HGNC:12559 VHL gene VHL Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown von Hippel-Lindau syndrome 193300 False 3 50;50;0 3.39 False ENSG00000134086 ENSG00000134086 HGNC:12687 VIPAS39 gene VIPAS39 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 20190753 False 3 50;50;0 3.39 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome;Arthrogryposis, renal dysfunction, and cholestasis 1;Arthrogryposis, renal dysfunction, and cholestasis 1, 208085;Arthrogryposis, renal dysfunction, and cholestasis False 3 67;33;0 3.39 False ENSG00000184056 ENSG00000184056 HGNC:12712 WDPCP gene WDPCP Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;?Bardet-Biedl syndrome 15 615992 False 3 0;100;0 3.39 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 13;Ciliopathy genes associated with cystic kidney disease;Senior-Loken 24504730, 25726036, 23683095, 22019273 False 3 50;50;0 3.39 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR35 gene WDR35 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 7 with or without polydactyly;Cranioectodermal dysplasia 2, 613610;Cranioectodermal dysplasia;Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 False 3 50;50;0 3.39 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, 615503;SHORT-RIB POLYDACTYLY;Short-rib thoracic dysplasia 8 with or without polydactyly;Jeune syndrome 23910462;26874042;25492405;29271569 False 3 50;50;0 3.39 False ENSG00000126870 ENSG00000126870 HGNC:21862 WDR73 gene WDR73 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1 #251300 26123727;25466283 False 3 50;50;0 3.39 False ENSG00000177082 ENSG00000177082 HGNC:25928 WT1 gene WT1 Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrotic syndrome, type 4 256370 False 3 0;100;0 3.39 False ENSG00000184937 ENSG00000184937 HGNC:12796 XDH gene XDH Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Xanthinuria, type I, 278300 27604308;9153281 False 3 50;50;0 3.39 False ENSG00000158125 ENSG00000158125 HGNC:12805 XPNPEP3 gene XPNPEP3 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 3 33;33;33 3.39 False ENSG00000196236 ENSG00000196236 HGNC:28052 ISCA-37401-Loss region Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 194072;Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome False 3 0;0;0 3.39 False 11 31781961 32489442 3 60 cnv_loss 11p13 (WAGR syndrome) region Loss ISCA-37405-Loss region Expert Review Green Unexplained young onset end-stage renal disease BIALLELIC, autosomal or pseudoautosomal 609583;266900;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 9856524;8852662;15138899 False 3 0;0;0 3.39 False 2 110104531 110228181 30 60 cnv_loss 2q13 recurrent region (includes NPHP1) Loss ISCA-37432-Loss region Expert Review Green Unexplained young onset end-stage renal disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schizophrenia;Renal cysts and diabetes syndrome;delayed development, intellectual disability;Autism Spectrum Disorder;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;global developmental delay;614527;RCAD syndrome;Chromosome 17q12 deletion syndrome;utero-vaginal atresia False 3 0;0;0 3.39 False 17 36458167 37854616 3 60 cnv_loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss