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 ABCG2 gene ABCG2 NHS GMS Unexplained young onset end-stage renal disease Renal Unknown Serum uric acid concentration and susceptibility to gout, 138900 False 1 0;0;100 12.104 False ENSG00000118777 ENSG00000118777 HGNC:74 ACTA2 gene ACTA2 Expert Review Red Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Smooth muscle dysfunction syndrome, OMIM:613834 False 1 33;33;33 12.104 False ENSG00000107796 ENSG00000107796 HGNC:130 ADCY10 gene ADCY10 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID: 24907563 (review) False 1 50;0;50 12.104 True ENSG00000143199 ENSG00000143199 HGNC:21285 AGK gene AGK Expert Review Red;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal Hyperoxaluria, primary, type 1, 259900 False 1 0;0;100 12.104 True ENSG00000006530 ENSG00000006530 HGNC:21869 AHI1 gene AHI1 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000135541 ENSG00000135541 HGNC:21575 ALG1 gene ALG1 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Unexplained young onset end-stage renal disease Renal Congenital disorder of glycosylation, type Ik #608540 27325525 False 1 0;100;0 12.104 True ENSG00000033011 ENSG00000033011 HGNC:18294 ALMS1 gene ALMS1 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Unexplained young onset end-stage renal disease Renal Alstrom Syndrome #203800 25846608 False 1 0;100;0 12.104 True ENSG00000116127 ENSG00000116127 HGNC:428 ANKFY1 gene ANKFY1 NHS GMS Unexplained young onset end-stage renal disease Renal 29959197 False 1 0;0;100 12.104 False ENSG00000185722 ENSG00000185722 HGNC:20763 AP2S1 gene AP2S1 Expert Review Red;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalciuric hypercalcemia, familial, type III, 600740;Familial hypocalciuric hypercalcemia type III False 1 0;0;100 12.104 True ENSG00000042753 ENSG00000042753 HGNC:565 ARHGAP24 gene ARHGAP24 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Unexplained young onset end-stage renal disease Renal Focal segmental glomerulosclerosis 21911940 False 1 0;50;50 12.104 True ENSG00000138639 ENSG00000138639 HGNC:25361 ARL13B gene ARL13B Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 12.104 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert Review Red;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, OMIM:617622 28625504 False 1 50;0;50 12.104 False ENSG00000135931 ENSG00000135931 HGNC:20730 B9D1 gene B9D1 Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Expert Review Red;Emory Genetics Laboratory Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance);24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1) False 1 0;0;100 12.104 False ENSG00000108641 ENSG00000108641 HGNC:24123 BBS1 gene BBS1 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS9 gene BBS9 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000122507 ENSG00000122507 HGNC:30000 BICC1 gene BICC1 Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown {Renal dysplasia, cystic, susceptibility to}, OMIM:601331 False 1 0;20;80 12.104 False ENSG00000122870 ENSG00000122870 HGNC:19351 BMP4 gene BMP4 Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown Microphthalmia, syndromic 6, OMIM:607932 False 1 0;33;67 12.104 False ENSG00000125378 ENSG00000125378 HGNC:1071 C5orf42 gene C5orf42 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000197603 ENSG00000197603 HGNC:25801 C8orf37 gene C8orf37 Expert Review Red;Other Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, 617406 26854863;27008867 False 1 0;0;0 12.104 False ENSG00000156172 ENSG00000156172 HGNC:27232 CC2D2A gene CC2D2A Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC28B gene CCDC28B UKGTN;Expert Review Red;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal ciliopathies;{Bardet-Biedl syndrome 1, modifier of}, 209900 23015189 False 1 0;100;0 12.104 False ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC28B gene CCDC28B Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 12.104 True ENSG00000160050 ENSG00000160050 HGNC:28163 CD46 gene CD46 Expert Review Red;Expert list Unexplained young onset end-stage renal disease Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Haemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922; C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN 24172683;22456601;14615110; 21902819 False 1 0;0;100 12.104 False ENSG00000117335 ENSG00000117335 HGNC:6953 CDK20 gene CDK20 NHS GMS Unexplained young onset end-stage renal disease Renal Chronic kidney disease 29773874 False 1 0;0;100 12.104 False ENSG00000156345 ENSG00000156345 HGNC:21420 CEP41 gene CEP41 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000106477 ENSG00000106477 HGNC:12370 CFHR4 gene CFHR4 Other Unexplained young onset end-stage renal disease Renal Unknown Age related macular degeneration;Atypical hemolytic uremic syndrome susceptibility 19861685;23830046;28822440 False 1 0;0;100 12.104 False ENSG00000134365 ENSG00000134365 HGNC:16979 CHD1L gene CHD1L Expert Review Red Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown congenital anomaly of kidney and urinary tract, MONDO:0019719 22146311;24429398 False 1 0;50;50 12.104 False ENSG00000131778 ENSG00000131778 HGNC:1916 CLCNKA gene CLCNKA Expert Review Red;NHS GMS Unexplained young onset end-stage renal disease Renal Other Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909 15044642;18310267;32488762 False 1 0;100;0 12.104 False ENSG00000186510 ENSG00000186510 HGNC:2026 CLCNKA gene CLCNKA Expert Review Red;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal Other Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909 15044642;18310267;32488762 False 1 0;0;100 12.104 True ENSG00000186510 ENSG00000186510 HGNC:2026 COL4A1 gene COL4A1 NHS GMS Unexplained young onset end-stage renal disease Renal Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773 27190376 False 1 0;0;100 12.104 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A5 gene COL4A5 Expert Review Red;Other Unexplained young onset end-stage renal disease Renal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) cystic kidney disease MONDO:0002473 31922066;38680391 False 1 100;0;0 12.104 False ENSG00000188153 ENSG00000188153 HGNC:2207 COL4A6 gene COL4A6 NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5; Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4);diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4); (originally on Alport syndrome gene panel) False 1 0;100;0 12.104 True ENSG00000197565 ENSG00000197565 HGNC:2208 COQ7 gene COQ7 NHS GMS Unexplained young onset end-stage renal disease Renal ?Coenzyme Q10 deficiency, primary, 8 #616733 26084283 False 1 0;0;100 12.104 False ENSG00000167186 ENSG00000167186 HGNC:2244 COQ9 gene COQ9 NHS GMS Unexplained young onset end-stage renal disease Renal Coenzyme Q10 deficiency, primary, 5 #614654 19375058 False 1 0;0;100 12.104 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 False 1 0;25;75 12.104 False ENSG00000006695 ENSG00000006695 HGNC:2260 CYP11B2 gene CYP11B2 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Unexplained young onset end-stage renal disease Renal Hypoaldosteronism, congenital, due to CMO I deficiency #203400;Hypoaldosteronism, congenital, due to CMO II deficiency #610600 9814506;24022297 False 1 0;50;50 12.104 True ENSG00000179142 ENSG00000179142 HGNC:2592 DACT1 gene DACT1 Expert Review Red Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Townes-Brocks syndrome 2, OMIM:617466 19701191;22610794;28054444 False 1 0;33;67 12.104 False ENSG00000165617 ENSG00000165617 HGNC:17748 DHFR gene DHFR NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;100 12.104 True ENSG00000228716 ENSG00000228716 HGNC:2861 DKC1 gene DKC1 Expert Review Red;Literature Unexplained young onset end-stage renal disease Renal X-LINKED: hemizygous mutation in males, biallelic mutations in females steroid-resistant 6 nephrotic syndrome;cataracts (prior to steroid treatment);sensorineural deafness;enterocolitis 32554502 False 1 0;0;100 12.104 False ENSG00000130826 ENSG00000130826 HGNC:2890 DLG3 gene DLG3 Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown False 1 0;67;33 12.104 False ENSG00000082458 ENSG00000082458 HGNC:2902 E2F3 gene E2F3 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Unexplained young onset end-stage renal disease Renal FSGS;mental retardation 21372519 False 1 0;0;100 12.104 True ENSG00000112242 ENSG00000112242 HGNC:3115 EGF gene EGF NHS GMS Unexplained young onset end-stage renal disease Renal Hypomagnesemia 4, renal, 611718 17671655 False 1 0;0;100 12.104 False ENSG00000138798 ENSG00000138798 HGNC:3229 EXOC3L2 gene EXOC3L2 Expert Review Red;Expert list;Expert Review Red;Expert list Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Brain malformation renal syndrome, OMIM:620943 28749478;27894351 False 1 0;0;100 12.104 False ENSG00000130201 ENSG00000283632 HGNC:30162 EXOC8 gene EXOC8 Expert Review Red;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) 22700954 False 1 0;0;100 12.104 False ENSG00000116903 ENSG00000116903 HGNC:24659 FGF23 gene FGF23 Expert list Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 100;0;0 12.104 False ENSG00000118972 ENSG00000118972 HGNC:3680 FOXC1 gene FOXC1 Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown False 1 0;33;67 12.104 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown False 1 0;33;67 12.104 False ENSG00000176692 ENSG00000176692 HGNC:3801 GAPVD1 gene GAPVD1 NHS GMS Unexplained young onset end-stage renal disease Renal 29959197 False 1 0;100;0 12.104 False ENSG00000165219 ENSG00000165219 HGNC:23375 GDNF gene GDNF Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown False 1 0;33;67 12.104 False ENSG00000168621 ENSG00000168621 HGNC:4232 GIF gene GIF NHS GMS;Expert Review Red;Imerslund-Grasbeck syndrome eligibility statement prior genetic testing Unexplained young onset end-stage renal disease Renal GIF mutations may phenocopy this disorder; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;100 12.104 True ENSG00000134812 ENSG00000134812 HGNC:4268 GLIS2 gene GLIS2 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000126603 ENSG00000126603 HGNC:29450 GNA11 gene GNA11 Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal Hypocalciuric hypercalcemia, type II, 145981 False 1 0;0;100 12.104 False ENSG00000088256 ENSG00000088256 HGNC:4379 GREM1 gene GREM1 Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown False 1 0;33;67 12.104 False ENSG00000166923 ENSG00000166923 HGNC:2001 HCN3 gene HCN3 Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown False 1 0;33;67 12.104 False ENSG00000143630 ENSG00000143630 HGNC:19183 IFT74 gene IFT74 Expert Review Red;Other Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 20, 617119 27486776 False 1 0;0;100 12.104 False ENSG00000096872 ENSG00000096872 HGNC:21424 IL1RAP gene IL1RAP Expert Review Red;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Steroid-sensitive nephrotic syndrome 31954058 False 1 0;0;100 12.104 False ENSG00000196083 ENSG00000196083 HGNC:5995 INF2 gene INF2 NHS GMS Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, dominant intermediate E, 614455;Glomerulosclerosis, focal segmental, 5, 613237 27974406 False 1 0;50;50 12.104 False ENSG00000203485 ENSG00000203485 HGNC:23791 INPP5E gene INPP5E Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000148384 ENSG00000148384 HGNC:21474 IQCB1 gene IQCB1 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000173226 ENSG00000173226 HGNC:28949 ITGB4 gene ITGB4 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Unexplained young onset end-stage renal disease Renal Epidermolysis bullosa, junctional, with pyloric stenosis #226730 11328943 False 1 0;100;0 12.104 True ENSG00000132470 ENSG00000132470 HGNC:6158 ITSN2 gene ITSN2 NHS GMS Unexplained young onset end-stage renal disease Renal Early childhood SSNS 29773874 False 1 0;100;0 12.104 False ENSG00000198399 ENSG00000198399 HGNC:6184 KANK1 gene KANK1 NHS GMS Unexplained young onset end-stage renal disease Renal Steroid sensitive resistant nephrotic syndrome 25961457 False 1 0;0;100 12.104 False ENSG00000107104 ENSG00000107104 HGNC:19309 KANK4 gene KANK4 NHS GMS Unexplained young onset end-stage renal disease Renal 25961457 False 1 0;0;100 12.104 False ENSG00000132854 ENSG00000132854 HGNC:27263 KCNA1 gene KCNA1 NHS GMS Unexplained young onset end-stage renal disease Renal Autosomal dominant hypomagnesemia;Episodic ataxia/myokymia syndrome,160120 19307729 False 1 0;0;100 12.104 False ENSG00000111262 ENSG00000111262 HGNC:6218 KIAA0556 gene KIAA0556 Expert Review Red;Other Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771 29765138;27245168;26714646 False 1 0;0;0 12.104 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIF7 gene KIF7 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 12.104 True ENSG00000166813 ENSG00000166813 HGNC:30497 KIT gene KIT Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown False 1 0;33;67 12.104 False ENSG00000157404 ENSG00000157404 HGNC:6342 LMNA gene LMNA NHS GMS Unexplained young onset end-stage renal disease Renal Partial lipodystrophy and FSGS 24080738;28620495 False 1 0;100;0 12.104 False ENSG00000160789 ENSG00000160789 HGNC:6636 MAFB gene MAFB NHS GMS Unexplained young onset end-stage renal disease Renal FSGS with Duane retraction syndrome 29779709;22387013 False 1 0;100;0 12.104 False ENSG00000204103 ENSG00000204103 HGNC:6408 MED28 gene MED28 NHS GMS Unexplained young onset end-stage renal disease Renal False 1 0;0;100 12.104 False ENSG00000118579 ENSG00000118579 HGNC:24628 MEFV gene MEFV NHS GMS Unexplained young onset end-stage renal disease Renal Familial Mediterranean fever, AD, OMIM:134610;Familial Mediterranean fever, AR, OMIM:249100 False 1 0;100;0 12.104 False ENSG00000103313 ENSG00000103313 HGNC:6998 MKS1 gene MKS1 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000011143 ENSG00000011143 HGNC:7121 MTR gene MTR NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal Homocystinuria-megaloblastic anemia, cblG complementation type, 250940;{Neural tube defects, folate-sensitive, susceptibility to}, 601634;(originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;50;50 12.104 True ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal Homocystinuria-megaloblastic anemia, cbl E type, 236270; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;50;50 12.104 True ENSG00000124275 ENSG00000124275 HGNC:7473 MUC1 gene MUC1 Expert Review Red;Expert;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Medullary cystic kidney disease 1, 174000 False 1 100;0;0 12.104 True ENSG00000185499 ENSG00000185499 HGNC:7508 MUC1 gene MUC1 Expert Review Red;Expert list;UKGTN Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 12.104 False ENSG00000185499 ENSG00000185499 HGNC:7508 MYH11 gene MYH11 Expert Review Red Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351 False 1 0;33;67 12.104 False ENSG00000133392 ENSG00000133392 HGNC:7569 NEIL1 gene NEIL1 NHS GMS Unexplained young onset end-stage renal disease Renal SRNS 21697813 False 1 0;0;100 12.104 False ENSG00000140398 ENSG00000140398 HGNC:18448 NEK8 gene NEK8 Expert Review Red;NHS GMS Unexplained young onset end-stage renal disease Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Nephronophthisis 9 MIM 613824 False 1 0;0;100 12.104 False ENSG00000160602 ENSG00000160602 HGNC:13387 NEU1 gene NEU1 NHS GMS Unexplained young onset end-stage renal disease Renal SRNS 30450471 False 1 0;0;100 12.104 False ENSG00000204386 ENSG00000204386 HGNC:7758 NLRP3 gene NLRP3 NHS GMS Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muckle-Wells syndrome, OMIM:191900;Renal amyloidosis 30431487 False 1 0;0;100 12.104 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOP10 gene NOP10 Expert Review Red;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal steroid-resistant 6 nephrotic syndrome;cataracts (prior to steroid treatment);sensorineural deafness;enterocolitis 32554502 False 1 0;0;100 12.104 False ENSG00000182117 ENSG00000182117 HGNC:14378 NPHP4 gene NPHP4 NHS GMS Unexplained young onset end-stage renal disease Renal Nephronophthisis 4 #606966 17954299;26346198 False 1 0;100;0 12.104 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS2 gene NPHS2 NHS GMS;Expert Review Red;UKGTN Unexplained young onset end-stage renal disease Renal Hematuria, Benign Familial;Alport Syndrome, X-Linked;Alport Syndrome, Autosomal Recessive;Alport Syndrome, Autosomal Dominant;Nephrotic Syndrome, Type 2;?Modifier of COL4A variants 26138234 False 1 0;33;67 12.104 True ENSG00000116218 ENSG00000116218 HGNC:13394 NUP160 gene NUP160 NHS GMS Unexplained young onset end-stage renal disease Renal ?Nephrotic syndrome, type 19 #618178 30179222 False 1 0;100;0 12.104 False ENSG00000030066 ENSG00000030066 HGNC:18017 NUP205 gene NUP205 NHS GMS Unexplained young onset end-stage renal disease Renal ?Nephrotic syndrome, type 13 #616893 26878725 False 1 0;100;0 12.104 False ENSG00000155561 ENSG00000155561 HGNC:18658 NXF5 gene NXF5 NHS GMS Unexplained young onset end-stage renal disease Renal FSGS;heart-block disorder 23686279 False 1 0;0;100 12.104 False ENSG00000126952 ENSG00000126952 HGNC:8075 PDE6D gene PDE6D Expert Review Red;Expert list;Radboud University Medical Center, Nijmegen;Other;UKGTN Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22, 615665 24166846 False 1 0;25;75 12.104 False ENSG00000156973 ENSG00000156973 HGNC:8788 PIBF1 gene PIBF1 Expert Review Red;Expert Review;Literature;Research Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;ataxia;vermis hypoplasia;developmental delay;thick superior cerebellar peduncles;superior cerebellar dysplasia 26167768;29695797;30858804 False 1 0;0;0 12.104 False ENSG00000083535 ENSG00000083535 HGNC:23352 PMM2 gene PMM2 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Unexplained young onset end-stage renal disease Renal Congenital disorder of glycosylation, type Ia #212065 19474279;29229467 False 1 0;100;0 12.104 True ENSG00000140650 ENSG00000140650 HGNC:9115 ROBO2 gene ROBO2 Expert Review Red Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vesicoureteral reflux 2, OMIM:610878 False 1 0;20;80 12.104 False ENSG00000185008 ENSG00000185008 HGNC:10250 RPGRIP1L gene RPGRIP1L Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000103494 ENSG00000103494 HGNC:29168 SDCCAG8 gene SDCCAG8 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000054282 ENSG00000054282 HGNC:10671 SEC63 gene SEC63 Expert Review Red;Expert list;UKGTN Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 12.104 False ENSG00000025796 ENSG00000025796 HGNC:21082 SHH gene SHH Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown False 1 0;33;67 12.104 False ENSG00000164690 ENSG00000164690 HGNC:10848 SIX1 gene SIX1 Expert Review Red Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootic syndrome 3, OMIM:608389;Deafness, autosomal dominant 23, OMIM:605192 False 1 33;33;33 12.104 False ENSG00000126778 ENSG00000126778 HGNC:10887 SIX5 gene SIX5 NHS GMS;Expert Review Red Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, OMIM:610896 False 1 40;20;40 12.104 False ENSG00000177045 ENSG00000177045 HGNC:10891 SLC19A2 gene SLC19A2 NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270 False 1 0;0;100 12.104 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) #607483;(originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;100 12.104 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC26A1 gene SLC26A1 Expert Review Red;Expert list Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Nephrolithiasis, calcium oxalate, MIM#167030 27210743;20160351;30383413;27125215;24250268;36719378 False 1 33;0;67 12.104 False ENSG00000145217 ENSG00000145217 HGNC:10993 SLC26A6 gene SLC26A6 Literature Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Enteric hyperoxaluria and nephrolithiasis 35115415 False 1 0;0;0 12.104 False ENSG00000225697 ENSG00000225697 HGNC:14472 SLC34A1 gene SLC34A1 Expert Review Red;NHS GMS Unexplained young onset end-stage renal disease Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypercalcemia, infantile, 2, MIM 616963;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286;?Fanconi renotubular syndrome 2 613388 12324554;20335586 False 1 100;0;0 12.104 False ENSG00000131183 ENSG00000131183 HGNC:11019 SLC34A3 gene SLC34A3 Expert Review Red;NHS GMS Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets with hypercalciuria, 241530 16358214;16358215;16849419 False 1 100;0;0 12.104 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC36A2 gene SLC36A2 Expert Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 12.104 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLC41A1 gene SLC41A1 Expert Review Red;Expert list Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 23661805 False 1 0;0;100 12.104 False ENSG00000133065 ENSG00000133065 HGNC:19429 SLC6A19 gene SLC6A19 Expert Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal 19033659 False 1 0;0;100 12.104 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A20 gene SLC6A20 Expert Unexplained young onset end-stage renal disease Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 12.104 False ENSG00000163817 ENSG00000163817 HGNC:30927 SLC9A3 gene SLC9A3 Expert Unexplained young onset end-stage renal disease Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 12.104 False ENSG00000066230 ENSG00000066230 HGNC:11073 SLC9A3R1 gene SLC9A3R1 Expert Review Red;NHS GMS Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 18784102;25296721;19073985 False 1 100;0;0 12.104 False ENSG00000109062 ENSG00000109062 HGNC:11075 SLIT2 gene SLIT2 Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown False 1 0;33;67 12.104 False ENSG00000145147 ENSG00000145147 HGNC:11086 SMARCA4 gene SMARCA4 Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown False 1 0;33;67 12.104 False ENSG00000127616 ENSG00000127616 HGNC:11100 SOX17 gene SOX17 Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown Vesicoureteral reflux 3, OMIM:613674 False 1 0;33;67 12.104 False ENSG00000164736 ENSG00000164736 HGNC:18122 SPRY1 gene SPRY1 Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown False 1 0;33;67 12.104 False ENSG00000164056 ENSG00000164056 HGNC:11269 SYNPO gene SYNPO NHS GMS Unexplained young onset end-stage renal disease Renal Focal segmental glomerulosclerosis;FSGS 19666657 False 1 0;100;0 12.104 False ENSG00000171992 ENSG00000171992 HGNC:30672 TCTN1 gene TCTN1 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 12.104 True ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN3 gene TCTN3 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000119977 ENSG00000119977 HGNC:24519 THBD gene THBD NHS GMS;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926;Thrombophilia due to thrombomodulin defect 614486 19625716;25135378;20513133;23307876 False 1 0;20;80 12.104 False ENSG00000178726 ENSG00000178726 HGNC:11784 TMEM138 gene TMEM138 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 12.104 True ENSG00000155755 ENSG00000155755 HGNC:14432 TNXB gene TNXB Expert Review Red Unexplained young onset end-stage renal disease Renal Unknown False 1 0;33;67 12.104 False ENSG00000168477 ENSG00000168477 HGNC:11976 TRIM32 gene TRIM32 UKGTN;Expert Review Red;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 11, 615988;Muscular dystrophy, limb-girdle, type 2H, 254110 11822024;16606853 False 1 0;0;100 12.104 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM32 gene TRIM32 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 12.104 True ENSG00000119401 ENSG00000119401 HGNC:16380 TRPM6 gene TRPM6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia with Secondary Hypocalcemia False 1 0;0;100 12.104 False ENSG00000119121 ENSG00000119121 HGNC:17995 TSHZ3 gene TSHZ3 Expert Review Red Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;25;75 12.104 False ENSG00000121297 ENSG00000121297 HGNC:30700 TTC21B gene TTC21B NHS GMS Unexplained young onset end-stage renal disease Renal Nephronophthisis 12 # 613820 26940125;24876116 False 1 0;100;0 12.104 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 12.104 True ENSG00000165533 ENSG00000165533 HGNC:20087 UMOD gene UMOD Expert Review Red;Expert list;Emory Genetics Laboratory;UKGTN Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 12.104 False ENSG00000169344 ENSG00000169344 HGNC:12559 UPK2 gene UPK2 Expert Review Red Unexplained young onset end-stage renal disease Renal Other False 1 0;25;75 12.104 False ENSG00000110375 ENSG00000110375 HGNC:12579 UPK3A gene UPK3A Expert Review Red Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal Adysplasia False 1 0;25;75 12.104 False ENSG00000100373 ENSG00000100373 HGNC:12580 VDR gene VDR Expert Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;100 12.104 False ENSG00000111424 ENSG00000111424 HGNC:12679 VPS33B gene VPS33B NHS GMS Unexplained young onset end-stage renal disease Renal Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 18853461 False 1 0;100;0 12.104 False ENSG00000184056 ENSG00000184056 HGNC:12712 VTN gene VTN NHS GMS Unexplained young onset end-stage renal disease Renal Unknown Atypical haemolytic uraemic syndrome;aHUS 30377230 False 1 0;50;50 12.104 False ENSG00000109072 ENSG00000109072 HGNC:12724 WDPCP gene WDPCP Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 12.104 True ENSG00000143951 ENSG00000143951 HGNC:28027 XPO5 gene XPO5 NHS GMS Unexplained young onset end-stage renal disease Renal Nephrotic syndrome 26878725 False 1 0;0;100 12.104 False ENSG00000124571 ENSG00000124571 HGNC:17675 XPR1 gene XPR1 Expert Review Red;Expert Review;Literature Unexplained young onset end-stage renal disease Renal Unknown Fanconi syndrome;hypophosphatamia 27799484 False 1 0;0;100 12.104 False Other ENSG00000143324 ENSG00000143324 HGNC:12827 ZMPSTE24 gene ZMPSTE24 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Unexplained young onset end-stage renal disease Renal Mandibuloacral dysplasia with type B lipodystrophy #608612 17152860 False 1 0;100;0 12.104 True ENSG00000084073 ENSG00000084073 HGNC:12877 ZNF365 gene ZNF365 Expert Review Red;Expert Unexplained young onset end-stage renal disease Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Possible cause of uric acid stones;{Nephrolithiasis, uric acid, susceptibility to} False 1 50;0;50 12.104 True ENSG00000138311 ENSG00000138311 HGNC:18194