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 ADAMTS13 gene ADAMTS13 Expert Review Amber;Expert list Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 9828245;12130486;12640381 False 2 0;100;0 12.104 False ENSG00000160323 ENSG00000160323 HGNC:1366 ADAMTS9 gene ADAMTS9 NHS GMS;Expert Review Amber Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-Related Ciliopathy (no OMIM number yet) 30609407 False 2 0;100;0 12.104 False ENSG00000163638 ENSG00000163638 HGNC:13202 ADAMTS9 gene ADAMTS9 Expert Review Amber;Expert list Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-Related Ciliopathy 30609407 False 2 100;0;0 12.104 False ENSG00000163638 ENSG00000163638 HGNC:13202 ANLN gene ANLN NHS GMS;Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown " Focal segmental glomerulosclerosis 8 616032" 24676636;30002222 False 2 0;50;50 12.104 False ENSG00000011426 ENSG00000011426 HGNC:14082 APOA4 gene APOA4 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tubulointerstitial kidney disease, autosomal dominant 6, OMIM: 621106;tubulointerstitial kidney disease, autosomal dominant 6, MONDO:0976234;AApoAIV amyloidosis, MONDO:0018589 21900878;27262366;33751222;38096951;39699959 False 2 100;0;0 12.104 False ENSG00000110244 ENSG00000110244 HGNC:602 APOA4 gene APOA4 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tubulointerstitial kidney disease, autosomal dominant 6, OMIM: 621106;tubulointerstitial kidney disease, autosomal dominant 6, MONDO:0976234 21900878;27262366;28449784;33751222;38096951;39699959 False 2 100;0;0 12.104 False ENSG00000110244 ENSG00000110244 HGNC:602 APOC3 gene APOC3 Expert Review Amber;NHS GMS Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 26790392 False 2 100;0;0 12.104 False ENSG00000110245 ENSG00000110245 HGNC:610 APOL1 gene APOL1 Expert Review Amber;NHS GMS;Eligibility statement prior genetic testing Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal {Focal Segmental Glomerulosclerosis 4, Susceptibility to} OMIM:612551;{End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551 20647424;23766536;33517446 False 2 25;50;25 12.104 True Other ENSG00000100342 ENSG00000100342 HGNC:618 B2M gene B2M Expert Review Amber;NHS GMS Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Amyloidosis, familial visceral 105200 22693999 False 2 100;0;0 12.104 False ENSG00000166710 ENSG00000166710 HGNC:914 BBIP1 gene BBIP1 Expert Review Amber;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, OMIM:615995 24026985;32055034;37239474 False 2 50;50;0 12.104 False ENSG00000214413 ENSG00000214413 HGNC:28093 CEP290 gene CEP290 Expert Review Amber;Expert Unexplained young onset end-stage renal disease Renal Ciliopathy genes associated with cystic kidney disease False 2 100;0;0 12.104 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP55 gene CEP55 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Meckel-like syndrome;autosomal recessive lethal ciliopathy;renal dysplasia 28295209;30622327;28264986 False 2 0;100;0 12.104 False ENSG00000138180 ENSG00000138180 HGNC:1161 CFHR5 gene CFHR5 Expert Review Amber;Expert list Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Nephropathy due to CFHR5 deficiency, MIM# 614809" 22622361;20513133;30905589;29500241 False 2 0;100;0 12.104 False ENSG00000134389 ENSG00000134389 HGNC:24668 CFHR5 gene CFHR5 Expert Review Amber;NHS GMS;Expert Review;Literature Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephropathy due to CFHR5 deficiency OMIM:614809 20800271;24067434;23402027 False 2 100;0;0 12.104 True Other - please provide details in the comments ENSG00000134389 ENSG00000134389 HGNC:24668 COL4A3 gene COL4A3 Expert Review Amber;Research Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cystic kidney disease;proteinuria;haematuria 38178635;35602506 False 2 0;0;100 12.104 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Amber;Other Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cystic kidney disease, MONDO:0002473 31922066;38178635 False 2 50;50;0 12.104 False ENSG00000081052 ENSG00000081052 HGNC:2206 CST3 gene CST3 Expert Review Amber;NHS GMS Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral amyloid angiopathy 105150 2900981;3495457;1352269;3673496;7482672 False 2 100;0;0 12.104 False ENSG00000101439 ENSG00000101439 HGNC:2475 CYS1 gene CYS1 Literature;Expert Review Amber Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease, MONDO:0020642 34521872 False 2 0;100;0 12.104 False ENSG00000205795 ENSG00000205795 HGNC:18525 CYS1 gene CYS1 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease, MONDO:0020642 34521872 False 2 0;100;0 12.104 False ENSG00000205795 ENSG00000205795 HGNC:18525 DCDC2 gene DCDC2 Expert Review Amber;Orphanet;Expert list;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Neonatal sclerosing cholangitis;Nephronophthisis 19, 616217 25557784;22558177;27319779;27469900;31821705 False 2 0;60;40 12.104 False ENSG00000146038 ENSG00000146038 HGNC:18141 DCDC2 gene DCDC2 NHS GMS;Expert Review Amber Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Sclerosing cholangitis, neonatal MIM 617394;?Deafness, autosomal recessive 66 MIM 610212;Nephronophthisis 19 MIM 616217 25557784 False 2 0;100;0 12.104 False ENSG00000146038 ENSG00000146038 HGNC:18141 EHHADH gene EHHADH Expert Review Amber;NHS GMS;Expert Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Fanconi renotubular syndrome 3, OMIM:615605;L-bifunctional protein deficiency;Metabolic acidosis;Increased amino acids in urine 24401050;27160910 False 2 50;0;50 12.104 True Other - please provide details in the comments ENSG00000113790 ENSG00000113790 HGNC:3247 EMP2 gene EMP2 Expert Review Amber;NHS GMS;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal steroid sensitive nephrotic syndrome;Nephrotic syndrome, type 10 #615861 24814193 False 2 50;25;25 12.104 False ENSG00000213853 ENSG00000213853 HGNC:3334 ERCC1 gene ERCC1 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal hepatorenal syndrome, MONDO:0001382 40684071 False 2 100;0;0 12.104 False ENSG00000012061 ENSG00000012061 HGNC:3433 FOXI1 gene FOXI1 NHS GMS;Expert Review Amber;Literature;Expert Review Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal deafness;renal tubular acidosis;Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number);Enlarged vestibular aqueducts, 6007910 29242249 False 2 50;50;0 12.104 False ENSG00000168269 ENSG00000168269 HGNC:3815 FXYD2 gene FXYD2 Expert Review Amber;NHS GMS Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypomagnesemia 2, renal, 154020 11062458;25765846 False 2 100;0;0 12.104 False ENSG00000137731 ENSG00000137731 HGNC:4026 GLIS2 gene GLIS2 NHS GMS;Expert Review Amber Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 7 MIM 611498 False 2 0;100;0 12.104 False ENSG00000126603 ENSG00000126603 HGNC:29450 GNAS gene GNAS Expert Review Amber;NHS GMS Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Unexplained hyponatremia in infancy, severe early-onset gonadotrophin-independent precocious puberty and skeletal abnormalities. 30312418 False 2 0;100;0 12.104 False ENSG00000087460 ENSG00000087460 HGNC:4392 JAG1 gene JAG1 Expert Review Amber;Expert list Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant tubulointerstitial kidney disease 41061854 False 2 100;0;0 12.104 False ENSG00000101384 ENSG00000101384 HGNC:6188 KANK2 gene KANK2 Expert Review Amber;NHS GMS;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome;Nephrotic syndrome 16 #617783 25961457 False 2 50;50;0 12.104 True ENSG00000197256 ENSG00000197256 HGNC:29300 KAT2B gene KAT2B Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal steroid-resistant nephrotic syndrome, MONDO:0044765 39366742;29768408 False 2 0;100;0 12.104 False ENSG00000114166 ENSG00000114166 HGNC:8638 KIF14 gene KIF14 Expert Review Amber;Orphanet;Expert list;Radboud University Medical Center, Nijmegen;Other Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 24128419 False 2 33;67;0 12.104 False ENSG00000118193 ENSG00000118193 HGNC:19181 KIRREL1 gene KIRREL1 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal steroid-resistant nephrotic syndrome MONDO:0044765 31472902 False 2 0;100;0 12.104 False ENSG00000183853 ENSG00000183853 HGNC:15734 LAMA5 gene LAMA5 Expert Review Amber;NHS GMS Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 29534211 False 2 0;50;50 12.104 False ENSG00000130702 ENSG00000130702 HGNC:6485 NEK1 gene NEK1 Expert Review Amber;Expert list Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal "Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520" 21211617;22499340;25492405;28123176 False 2 50;50;0 12.104 False ENSG00000137601 ENSG00000137601 HGNC:7744 NLRP3 gene NLRP3 Expert Review Amber;Expert list Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muckle-Wells syndrome, OMIM:191900;Renal amyloidosis 11687797;28229991;27435956;31057541;30431487 False 2 100;0;0 12.104 False ENSG00000162711 ENSG00000162711 HGNC:16400 OFD1 gene OFD1 Expert Review Amber;Expert 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) 10910455;11179005 False 2 50;50;0 12.104 True ENSG00000046651 ENSG00000046651 HGNC:2567 PDIA6 gene PDIA6 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Polycystic kidney dysplasia, HP:0000113;Diabetes mellitus, HP:0000819;Microcephaly, HP:0000252 33495992;34487921;35856135;39044457;40974269 False 2 100;0;0 12.104 False ENSG00000143870 ENSG00000143870 HGNC:30168 PDIA6 gene PDIA6 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes;Polycystic kidney dysplasia, HP:0000113;Diabetes mellitus, HP:0000819;Microcephaly, HP:0000252 33495992;34487921;35856135;39044457;40974269 False 2 50;50;0 12.104 False ENSG00000143870 ENSG00000143870 HGNC:30168 PTPRO gene PTPRO Expert Review Amber;NHS GMS;Eligibility statement prior genetic testing Unexplained young onset end-stage renal disease Renal Nephrotic syndrome, type 6 #614196 21722858;30065916 False 2 33;67;0 12.104 True ENSG00000151490 ENSG00000151490 HGNC:9678 RCAN1 gene RCAN1 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted focal segmental glomerulosclerosis, MONDO:0100313;nephrotic syndrome, MONDO:0005377 33863784 False 2 0;100;0 12.104 False ENSG00000159200 ENSG00000159200 HGNC:3040 SCLT1 gene SCLT1 Expert Review Amber;Expert list Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome type IX;Senior-Loken syndrome 28486600;30425282;30237576;28005958;24285566 False 2 0;100;0 12.104 False ENSG00000151466 ENSG00000151466 HGNC:26406 SEC61A1 gene SEC61A1 Expert list;Expert Review Amber;Expert Review Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown glomerulocystic kidney disease;interstitial nephritis;chronic kidney disease;cystic kidney disease;Hyperuricemic nephropathy, familial juvenile, 4, 617056 31488840;27392076 False 2 50;50;0 12.104 False ENSG00000058262 ENSG00000058262 HGNC:18276 SLC9A3R1 gene SLC9A3R1 Expert Review Amber;Expert;Radboud University Medical Center, Nijmegen Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 False 2 100;0;0 12.104 True ENSG00000109062 ENSG00000109062 HGNC:11075 TMEM17 gene TMEM17 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome, MONDO:0018921;orofaciodigital syndrome type 6, MONDO:0010176;Joubert syndrome, MONDO:0018772 26982032;32055034;40841990;41054827 False 2 100;0;0 12.104 False ENSG00000186889 ENSG00000186889 HGNC:26623 TMEM17 gene TMEM17 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome, MONDO:0018921;orofaciodigital syndrome type 6, MONDO:0010176;Joubert syndrome, MONDO:0018772 26982032;32055034;40841990;41054827 False 2 100;0;0 12.104 False ENSG00000186889 ENSG00000186889 HGNC:26623 TMEM72 gene TMEM72 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal nephronophthisis, MONDO:0019005 41308066 False 2 100;0;0 12.104 False ENSG00000187783 ENSG00000187783 HGNC:31658 TMEM72 gene TMEM72 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal nephronophthisis, MONDO:0019005 41308066 False 2 100;0;0 12.104 False ENSG00000187783 ENSG00000187783 HGNC:31658 TMEM72 gene TMEM72 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal nephronophthisis, MONDO:0019005 41308066 False 2 100;0;0 12.104 False ENSG00000187783 ENSG00000187783 HGNC:31658 TTC26 gene TTC26 Expert Review Amber;Literature Unexplained young onset end-stage renal disease Renal BIALLELIC, autosomal or pseudoautosomal Biliary, renal, neurologic, and skeletal syndrome, OMIM:619534;biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191 31595528;32617964;34177428;38135897;39514123 False 2 100;0;0 12.104 False ENSG00000105948 ENSG00000105948 HGNC:21882 WNK1 gene WNK1 Expert Review Amber;NHS GMS Unexplained young onset end-stage renal disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIC, OMIM:614492 11498583 False 2 100;0;0 12.104 False ENSG00000060237 ENSG00000060237 HGNC:14540 ZNF423 gene ZNF423 Expert Review Amber;Expert Unexplained young onset end-stage renal disease Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007;32925911;33323469 False 2 0;100;0 12.104 True ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF423 gene ZNF423 Orphanet;Radboud University Medical Center, Nijmegen;Expert Review Amber;Expert list;Other;Emory Genetics Laboratory Unexplained young onset end-stage renal disease Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007;32925911;33323469 False 2 0;50;50 12.104 False ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF423 gene ZNF423 Expert Review Amber;NHS GMS Unexplained young onset end-stage renal disease Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007 False 2 100;0;0 12.104 False ENSG00000102935 ENSG00000102935 HGNC:16762