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;Expert list;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 Abnormality of the kidney;HP:0000077 PMID: 16116425, 22095942 False 3 100;0;0 8.102 True ENSG00000159640 ENSG00000159640 HGNC:2707 ACTG2 gene ACTG2 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Visceral myopathy, MIM# 155310" Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000163017 ENSG00000163017 HGNC:145 ACTN4 gene ACTN4 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 1, MIM#603278 Abnormality of the kidney;HP:0000077 26740551;22351778;10700177;26301083 False 3 100;0;0 8.102 True ENSG00000130402 ENSG00000130402 HGNC:166 AFF3 gene AFF3 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KINSSHIP syndrome, MIM# 619297 Abnormality of the kidney;HP:0000077 31388108;33961779 False 3 100;0;0 8.102 True ENSG00000144218 ENSG00000144218 HGNC:6473 AGT gene AGT Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 Abnormality of the kidney;HP:0000077 PMID: 16116425, 34234805, 33163725 False 3 100;0;0 8.102 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 Abnormality of the kidney;HP:0000077 PMID: 16116425 False 3 100;0;0 8.102 False ENSG00000144891 ENSG00000144891 HGNC:336 AGXT gene AGXT Expert Review Green;Victorian Clinical Genetics Services;Expert list;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal MONDO:0009823;Hyperoxaluria, primary, type 1, MIM# 259900 Abnormality of the kidney;HP:0000077 10453743;2039493;1703535;19479957 False 3 100;0;0 8.102 True ENSG00000172482 ENSG00000172482 HGNC:341 AHI1 gene AHI1 Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3, MIM#608629 Abnormality of the kidney;HP:0000077 PubMed: 15322546;15467982;16453322;29146704 False 3 100;0;0 8.102 True ENSG00000135541 ENSG00000135541 HGNC:21575 AIRE gene AIRE Expert Review Green;Expert list;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300 Abnormality of the kidney;HP:0000077 35521792 False 3 100;0;0 8.102 True ENSG00000160224 ENSG00000160224 HGNC:360 ALG5 gene ALG5 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 7, MIM# 620056;Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline Abnormality of the kidney;HP:0000077 35896117 False 3 100;0;0 8.102 True ENSG00000120697 ENSG00000120697 HGNC:20266 ALG8 gene ALG8 Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 3 with or without kidney cysts, MIM# 617874 Abnormality of the kidney;HP:0000077 PMID: 28375157, 32457805 False 3 100;0;0 8.102 True ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Il, MIM#608776;Gillessen-Kaesbach-Nishimura syndrome, MIM#263210;Polycystic kidney disease;ALG9-associated autosomal dominant polycystic kidney disease MONDO:0700000 Abnormality of the kidney;HP:0000077 31395617 False 3 50;50;0 8.102 True ENSG00000086848 ENSG00000086848 HGNC:15672 ALMS1 gene ALMS1 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000116127 ENSG00000116127 HGNC:428 ALPL gene ALPL Expert Review Green;Expert list;Expert list;NHS GMS;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypophosphatasia, childhood, OMIM #241510;Odontohypophosphatasia, OMIM #146300;Hypophosphatasia, adult, OMIM # 146300;Hypophosphatasia, infantile, OMIM #241500 Abnormality of the kidney;HP:0000077 23688511;19500388 False 3 100;0;0 8.102 True ENSG00000162551 ENSG00000162551 HGNC:438 AMMECR1 gene AMMECR1 Expert Review Green;Expert Review;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990 Abnormality of the kidney;HP:0000077 28089922;27811305;29193635 False 3 100;0;0 8.102 True ENSG00000101935 ENSG00000101935 HGNC:467 AMN gene AMN NHS GMS;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Norwegian type, MIM#261100 Abnormality of the kidney;HP:0000077 15024727 False 3 100;0;0 8.102 True ENSG00000166126 ENSG00000166126 HGNC:14604 ANKS6 gene ANKS6 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 16, MIM# 615382;MONDO:0014158 Abnormality of the kidney;HP:0000077 23793029;31678577;31635528;26039630;24610927 False 3 100;0;0 8.102 True ENSG00000165138 ENSG00000165138 HGNC:26724 ANOS1 gene ANOS1 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000011201 ENSG00000011201 HGNC:6211 AP2S1 gene AP2S1 Expert Review Green;KidGen_CalcPhos v38.1.0;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalciuric hypercalcaemia, type III, MIM# 600740;MONDO:0010926 Abnormality of the kidney;HP:0000077 33729479;3204769;23222959;29479578;33168530;31723423 False 3 100;0;0 8.102 True ENSG00000042753 ENSG00000042753 HGNC:565 APOA1 gene APOA1 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, 3 or more types, MIM#105200 Abnormality of the kidney;HP:0000077 PubMed:31482740;29968409;27240838 False 3 100;0;0 8.102 True ENSG00000118137 ENSG00000118137 HGNC:600 APOA4 gene APOA4 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary amyloidosis, MONDO:0018634, APOA4-related Abnormality of the kidney;HP:0000077 PMID: 38096951 False 3 100;0;0 8.102 True ENSG00000110244 ENSG00000110244 HGNC:602 APOE gene APOE Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipoprotein glomerulopathy, MIM#611771 Abnormality of the kidney;HP:0000077 18077821;28966924;24348079 False 3 100;0;0 8.102 True ENSG00000130203 ENSG00000130203 HGNC:613 APRT gene APRT Expert Review Green;Expert list;Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Adenine phosphoribosyltransferase deficiency, MIM#614723 Abnormality of the kidney;HP:0000077 1353080;2227934;3680503;7915931 False 3 100;0;0 8.102 False ENSG00000198931 ENSG00000198931 HGNC:626 AQP2 gene AQP2 Expert Review Green;Expert list;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes insipidus, nephrogenic MIM#125800 Abnormality of the kidney;HP:0000077 7537761;11536078;9649557;20301356;27156763;7524315 False 3 100;0;0 8.102 False ENSG00000167580 ENSG00000167580 HGNC:634 ARHGDIA gene ARHGDIA Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000141522 ENSG00000141522 HGNC:678 ARL13B gene ARL13B Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8, MIM# 612291 Abnormality of the kidney;HP:0000077 18674751;25138100;26092869;27894351;29255182;17488627 False 3 100;0;0 8.102 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, MIM# 600151 Abnormality of the kidney;HP:0000077 15258860;32361989;31888296;25402481 False 3 100;0;0 8.102 True ENSG00000113966 ENSG00000113966 HGNC:13210 ATP1A1 gene ATP1A1 Expert Review Green;Literature;Literature;Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2DD, OMIM #618036;Hypomagnesemia, seizures, and mental retardation 2, OMIM #618314 Abnormality of the kidney;HP:0000077 30388404 False 3 100;0;0 8.102 False ENSG00000163399 ENSG00000163399 HGNC:799 ATP6V0A4 gene ATP6V0A4 Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, distal, autosomal recessive, MIM#602722 Abnormality of the kidney;HP:0000077 10973252;12414817 False 3 100;0;0 8.102 False ENSG00000105929 ENSG00000105929 HGNC:866 ATP6V1B1 gene ATP6V1B1 Expert Review Green;KidGen_Tubulopathies v38.1.0;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 Abnormality of the kidney;HP:0000077 12414817;9916796;18798332;16611712 False 3 100;0;0 8.102 False ENSG00000116039 ENSG00000116039 HGNC:853 AVP gene AVP Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes insipidus, neurohypophyseal MIM#125700 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000101200 ENSG00000101200 HGNC:894 AVPR2 gene AVPR2 Expert Review Green;KidGen_Tubulopathies v38.1.0;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Nephrogenic syndrome of inappropriate antidiuresis 300539;Diabetes insipidus, nephrogenic 304800 Abnormality of the kidney;HP:0000077 9127330;1356229;20301356;27156763;15872203 False 3 100;0;0 8.102 False ENSG00000126895 ENSG00000126895 HGNC:897 B2M gene B2M Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "variant ABeta2M amyloidosis MONDO:0017810" Abnormality of the kidney;HP:0000077 22693999;37223323;24014031;35575118;32875920 False 3 100;0;0 8.102 False ENSG00000166710 ENSG00000166710 HGNC:914 BBS1 gene BBS1 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1, MIM# 209900 Abnormality of the kidney;HP:0000077 20177705 False 3 100;0;0 8.102 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, MIM# 615987 Abnormality of the kidney;HP:0000077 16582908;19252258 False 3 100;0;0 8.102 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, MIM# 615989 Abnormality of the kidney;HP:0000077 19797195;29633607;26082521 False 3 100;0;0 8.102 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, MIM# 615981 Abnormality of the kidney;HP:0000077 11567139;16823392;28143435 False 3 100;0;0 8.102 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, MIM#615982;MONDO:0014433 Abnormality of the kidney;HP:0000077 12016587;11381270 False 3 100;0;0 8.102 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, MIM#615983;MONDO:0014434 Abnormality of the kidney;HP:0000077 19252258;15137946;10053027;15637713 False 3 100;0;0 8.102 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, MIM# 615984;MONDO:0014435 Abnormality of the kidney;HP:0000077 12567324;21937992;19797195 False 3 100;0;0 8.102 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, MIM#615986;MONDO:0014437 Abnormality of the kidney;HP:0000077 16380913;22353939;32686083;32037757 False 3 100;0;0 8.102 True ENSG00000122507 ENSG00000122507 HGNC:30000 BCS1L gene BCS1L Expert Review Green;KidGen_MetabolicRenal v38.1.0;Expert Review Green;Expert Review Green;Literature;Royal Melbourne Hospital;KidGen_MetabolicRenal v38.1.0;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type MIM#112400;Bjornstad syndrome MIM#262000;GRACILE syndrome, MIM#603358 Abnormality of the kidney;HP:0000077 26563427;17314340;24172246 False 3 100;0;0 8.102 False ENSG00000074582 ENSG00000074582 HGNC:1020 BMP4 gene BMP4 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT Abnormality of the kidney;HP:0000077 30568244;24131739;23641053;19685083 False 3 100;0;0 8.102 True ENSG00000125378 ENSG00000125378 HGNC:1071 BNC2 gene BNC2 Expert Review Green;Expert list;Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lower urinary tract obstruction, congenital;OMIM #618612 Abnormality of the kidney;HP:0000077 PMID: 31656805, 31051115 False 3 100;0;0 8.102 True ENSG00000173068 ENSG00000173068 HGNC:30988 BSND gene BSND Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a, MIM# 602522 Abnormality of the kidney;HP:0000077 21269598;30174009;11687798;12574213;27234911 False 3 100;0;0 8.102 False ENSG00000162399 ENSG00000162399 HGNC:16512 C3 gene C3 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925 Abnormality of the kidney;HP:0000077 18796626;34248927;33691638 False 3 100;0;0 8.102 True ENSG00000125730 ENSG00000125730 HGNC:1318 CA2 gene CA2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 Abnormality of the kidney;HP:0000077 34624559;12566520;33555497;7627193 False 3 100;0;0 8.102 False ENSG00000104267 ENSG00000104267 HGNC:1373 CACNA1D gene CACNA1D Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474;MONDO:0014200 Abnormality of the kidney;HP:0000077 23913001;32336187;30698561 False 3 100;0;0 8.102 True ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1D gene CACNA1D Expert Review Green;KidGen_AldoHypertension v38.1.0;Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MONDO:0014200;Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 Abnormality of the kidney;HP:0000077 23913001;32336187;30698561 False 3 100;0;0 8.102 False ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1H gene CACNA1H Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type IV MIM#617027;MONDO:0014875 Abnormality of the kidney;HP:0000077 27729216;25907736;31126930 False 3 100;0;0 8.102 True ENSG00000196557 ENSG00000196557 HGNC:1395 CACNA1H gene CACNA1H Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MONDO:0014875;Hyperaldosteronism, familial, type IV MIM#617027 Abnormality of the kidney;HP:0000077 25907736;31126930;27729216 False 3 100;0;0 8.102 False ENSG00000196557 ENSG00000196557 HGNC:1395 CACNA1S gene CACNA1S Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypokalemic periodic paralysis, type 1, MIM# 170400 Abnormality of the kidney;HP:0000077 11591859;28012042 False 3 100;0;0 8.102 False ENSG00000081248 ENSG00000081248 HGNC:1397 CASR gene CASR Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198;Hypocalciuric hypercalcemia, type I, MIM# 145980 Abnormality of the kidney;HP:0000077 30760291;8813042;27234911 False 3 100;0;0 8.102 False ENSG00000036828 ENSG00000036828 HGNC:1514 CC2D2A gene CC2D2A Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 6, MIM# 612284 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000048342 ENSG00000048342 HGNC:29253 CD151 gene CD151 Expert Review Green;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 Abnormality of the kidney;HP:0000077 15265795;29138120 False 3 100;0;0 8.102 True ENSG00000177697 ENSG00000177697 HGNC:1630 CD2AP gene CD2AP Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917 Abnormality of the kidney;HP:0000077 30612599;17713465;10997929;12764198;15951437 False 3 0;100;0 8.102 True ENSG00000198087 ENSG00000198087 HGNC:14258 CD46 gene CD46 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal {Susceptibility to atypical hemolytic uremic syndrome 2} (MIM#612922), AD, AR;Atypical hemolytic uremic syndrome 2 Abnormality of the kidney;HP:0000077 26054645;26826462 False 3 100;0;0 8.102 True ENSG00000117335 ENSG00000117335 HGNC:6953 CDC73 gene CDC73 Expert Review Green;KidGen_CalcPhos v38.1.0;Expert Review Green;Expert Review Green;Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperparathyroidism-jaw tumour syndrome, MIM# 145001;Hyperparathyroidism, familial primary, MIM# 145000 Abnormality of the kidney;HP:0000077 12434154 False 3 100;0;0 8.102 False ENSG00000134371 ENSG00000134371 HGNC:16783 CDKN1B gene CDKN1B Expert Review Green;Expert list;Expert list;Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia type 4, MEN4, OMIM #610755 Abnormality of the kidney;HP:0000077 24819502, 17030811, 23555276 False 3 100;0;0 8.102 False ENSG00000111276 ENSG00000111276 HGNC:1785 CDX2 gene CDX2 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005;Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs Abnormality of the kidney;HP:0000077 29177441;34671974 False 3 50;50;0 8.102 True ENSG00000165556 ENSG00000165556 HGNC:1806 CELSR3 gene CELSR3 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), CELSR3-related Abnormality of the kidney;HP:0000077 38429302 False 3 100;0;0 8.102 True ENSG00000008300 ENSG00000008300 HGNC:3230 CENPF gene CENPF Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, MIM#243605 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000117724 ENSG00000117724 HGNC:1857 CEP164 gene CEP164 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome;Nephronophthisis 15, MIM# 614845;Oro-facio-digital syndrome Abnormality of the kidney;HP:0000077 34132027;34013113;32055034;27708425;22863007 False 3 100;0;0 8.102 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 6, MIM# 610189 Abnormality of the kidney;HP:0000077 18327255;20690115;16682973;32208788 False 3 100;0;0 8.102 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP55 gene CEP55 Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500 Abnormality of the kidney;HP:0000077 28295209;28264986;30622327 False 3 50;50;0 8.102 True ENSG00000138180 ENSG00000138180 HGNC:1161 CEP83 gene CEP83 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, MIM# 615862;MONDO:0014374;Retinal dystrophy;ID Abnormality of the kidney;HP:0000077 24882706;33938610 False 3 100;0;0 8.102 True ENSG00000173588 ENSG00000173588 HGNC:17966 CFB gene CFB Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Haemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924 Abnormality of the kidney;HP:0000077 33725982;33273796;33126970;31242818 False 3 100;0;0 8.102 True ENSG00000243649 ENSG00000243649 HGNC:1037 CFH gene CFH Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR1 gene CFHR1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400 Abnormality of the kidney;HP:0000077 32424742 False 3 50;50;0 8.102 True ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR2 gene CFHR2 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal C3 glomerulopathy;C3G;Immune complex MPGN;IC-MPGN Abnormality of the kidney;HP:0000077 24334459;23728178;20800271 False 3 100;0;0 8.102 True ENSG00000080910 ENSG00000080910 HGNC:4890 CFHR3 gene CFHR3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400 Abnormality of the kidney;HP:0000077 32424742 False 3 50;50;0 8.102 True ENSG00000116785 ENSG00000116785 HGNC:16980 CFHR5 gene CFHR5 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000134389 ENSG00000134389 HGNC:24668 CFI gene CFI Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000205403 ENSG00000205403 HGNC:5394 CHD7 gene CHD7 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome MIM#214800 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000171316 ENSG00000171316 HGNC:20626 CHRNA3 gene CHRNA3 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800 Abnormality of the kidney;HP:0000077 31708116 False 3 100;0;0 8.102 True ENSG00000080644 ENSG00000080644 HGNC:1957 CLCN2 gene CLCN2 Expert Review Green;KidGen_AldoHypertension v38.1.0;Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type II 605635 Abnormality of the kidney;HP:0000077 29403012;29403011 False 3 100;0;0 8.102 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN2 gene CLCN2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type II 605635 Abnormality of the kidney;HP:0000077 29403011;29403012 False 3 100;0;0 8.102 True ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN5 gene CLCN5 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Dent disease, MIM#300009;Nephrolithiasis, type I, MIM#310468;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990;Hypophosphatemic rickets, MIM#300554 Abnormality of the kidney;HP:0000077 28580211;8559248, 9596078 False 3 75;25;0 8.102 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCN5 gene CLCN5 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Dent disease, MIM#300009;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000171365 ENSG00000171365 HGNC:2023 CLCNKB gene CLCNKB Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Expert Review;Literature;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 3, MIM# 607364;Bartter syndrome, type 4b, digenic, MIM# 613090 Abnormality of the kidney;HP:0000077 18310267;15044642;9326936 False 3 100;0;0 8.102 False ENSG00000184908 ENSG00000184908 HGNC:2027 CLDN10 gene CLDN10 Expert Review Green;KidGen_Magnesium v38.1.0;Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal HELIX syndrome, MIM#617671 Abnormality of the kidney;HP:0000077 28686597 False 3 100;0;0 8.102 False ENSG00000134873 ENSG00000134873 HGNC:2033 CLDN16 gene CLDN16 Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal amelogenesis imperfecta MONDO#0019507, CLDN16-related;Hypomagnesemia 3, renal MIM#248250 Abnormality of the kidney;HP:0000077 16501001;32869508;10878661;26426912 False 3 100;0;0 8.102 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190 Abnormality of the kidney;HP:0000077 22422540;27530400;17033971 False 3 100;0;0 8.102 False ENSG00000164007 ENSG00000164007 HGNC:2040 CNNM2 gene CNNM2 Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypomagnesemia 6, renal MIM#613882;Hypomagnesemia, seizures, and mental retardation MIM#616418 Abnormality of the kidney;HP:0000077 35170241;34604137 False 3 100;0;0 8.102 False ENSG00000148842 ENSG00000148842 HGNC:103 COL4A1 gene COL4A1 Expert Review Green;Expert list;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A1 gene COL4A1 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773" Abnormality of the kidney;HP:0000077 25719457;15882279 False 3 100;0;0 8.102 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A3 gene COL4A3 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A3 gene COL4A3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Alport syndrome 2, autosomal recessive, MIM# 203780;Alport syndrome 3, autosomal dominant, MIM# 104200 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A3 gene COL4A3 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alport syndrome MONDO:0018965 Abnormality of the kidney;HP:0000077 39190485;38514012 False 3 100;0;0 8.102 True ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Alport syndrome 2, autosomal recessive, 203780;Thin basement membrane nephropathy (TBMN), AD;Focal segmental glomerulosclerosis (FSGS), AD Abnormality of the kidney;HP:0000077 17942953;24052634;12631110;26346198;30450445 False 3 100;0;0 8.102 True ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A4 gene COL4A4 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alport syndrome MONDO:0018965 Abnormality of the kidney;HP:0000077 38514012 False 3 100;0;0 8.102 True ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A4 gene COL4A4 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Alport syndrome 1, X-linked, MIM# 301050 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000188153 ENSG00000188153 HGNC:2207 COL4A5 gene COL4A5 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Alport syndrome MONDO:0018965 Abnormality of the kidney;HP:0000077 38790225;38680391;38514012 False 3 100;0;0 8.102 True ENSG00000188153 ENSG00000188153 HGNC:2207 COL4A5 gene COL4A5 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Alport syndrome 1, X-linked, MIM# 301050 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000188153 ENSG00000188153 HGNC:2207 COQ2 gene COQ2 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ6 gene COQ6 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8B gene COQ8B Expert Review Green;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9, MIM#615573 Abnormality of the kidney;HP:0000077 24270420 False 3 100;0;0 8.102 True ENSG00000123815 ENSG00000123815 HGNC:19041 CPT2 gene CPT2 Expert Review Green;KidGen_MetabolicRenal v38.1.0;Expert Review Green;KidGen_MetabolicRenal v38.1.0;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, lethal neonatal 608836;CPT II deficiency, infantile 600649;CPT II deficiency, myopathic, stress-induced 255110 Abnormality of the kidney;HP:0000077 11477613;12410208;8358442;8651281 False 3 100;0;0 8.102 False ENSG00000157184 ENSG00000157184 HGNC:2330 CRB2 gene CRB2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease, MIM# 219730 Abnormality of the kidney;HP:0000077 25557780;33687977;32051522;30212996 False 3 100;0;0 8.102 True ENSG00000148204 ENSG00000148204 HGNC:18688 CRB2 gene CRB2 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Ventriculomegaly with cystic kidney disease, MIM# 219730" Abnormality of the kidney;HP:0000077 25557780;33687977;32051522;30212996 False 3 100;0;0 8.102 True ENSG00000148204 ENSG00000148204 HGNC:18688 CSPP1 gene CSPP1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, MIM# 615636;MONDO:0014288 Abnormality of the kidney;HP:0000077 24360808;24360803;24360807;25997910 False 3 100;0;0 8.102 True ENSG00000104218 ENSG00000104218 HGNC:26193 CTNS gene CTNS Expert Review Green;Expert list;Expert Review Green;Expert list;Expert Review Green;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cystinosis, nephropathic MIM#219800 Abnormality of the kidney;HP:0000077 20301574, 9537412, 31068690 False 3 100;0;0 8.102 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTU2 gene CTU2 Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome Abnormality of the kidney;HP:0000077 27480277;26633546 False 3 100;0;0 8.102 True ENSG00000174177 ENSG00000174177 HGNC:28005 CUBN gene CUBN Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000107611 ENSG00000107611 HGNC:2548 CUL3 gene CUL3 Expert Review Green;KidGen_AldoHypertension v38.1.0;Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIE, MIM# 614496 Abnormality of the kidney;HP:0000077 22266938 False 3 100;0;0 8.102 False ENSG00000036257 ENSG00000036257 HGNC:2553 CUL3 gene CUL3 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIE, MIM# 614496 Abnormality of the kidney;HP:0000077 22266938 False 3 100;0;0 8.102 True ENSG00000036257 ENSG00000036257 HGNC:2553 CYP11B1 gene CYP11B1 Expert Review Green;Expert Review;Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Aldosteronism, glucocorticoid-remediable, MIM# 103900" Abnormality of the kidney;HP:0000077 29703198;1731223 False 3 50;50;0 8.102 False ENSG00000160882 ENSG00000160882 HGNC:2591 CYP11B1 gene CYP11B1 Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Aldosteronism, glucocorticoid-remediable, MIM# 103900" Abnormality of the kidney;HP:0000077 1731223;29703198 False 3 50;50;0 8.102 True ENSG00000160882 ENSG00000160882 HGNC:2591 CYP11B2 gene CYP11B2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600) Abnormality of the kidney;HP:0000077 9360501;9814506;12788848;8439335;8772616;15240589 False 3 100;0;0 8.102 False ENSG00000179142 ENSG00000179142 HGNC:2592 CYP11B2 gene CYP11B2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600) Abnormality of the kidney;HP:0000077 8439335;9360501;15240589;9814506;12788848;8772616 False 3 100;0;0 8.102 True ENSG00000179142 ENSG00000179142 HGNC:2592 CYP17A1 gene CYP17A1 Expert Review Green;Expert list;Expert list;Expert Review Green;KidGen_MetabolicRenal v38.1.0;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 Abnormality of the kidney;HP:0000077 2843762, 14671162, 2026124 False 3 100;0;0 8.102 False ENSG00000148795 ENSG00000148795 HGNC:2593 CYP17A1 gene CYP17A1 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 Abnormality of the kidney;HP:0000077 PMID: 2843762, 14671162, 2026124 False 3 100;0;0 8.102 True ENSG00000148795 ENSG00000148795 HGNC:2593 CYP21A2 gene CYP21A2 Expert Review Green;Expert list;Expert list;Expert Review Green;KidGen_MetabolicRenal v38.1.0;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910;Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 Abnormality of the kidney;HP:0000077 11397897;12930931;12915679 False 3 100;0;0 8.102 False ENSG00000231852 ENSG00000231852 HGNC:2600 CYP21A2 gene CYP21A2 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000231852 ENSG00000231852 HGNC:2600 CYP24A1 gene CYP24A1 Expert Review Green;KidGen_CalcPhos v38.1.0;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypercalcaemia, infantile, 1, MIM# 143880;MONDO:0020739 Abnormality of the kidney;HP:0000077 21675912;33186763;32743688;33516786;32866123;22047572 False 3 100;0;0 8.102 False ENSG00000019186 ENSG00000019186 HGNC:2602 CYP27B1 gene CYP27B1 Expert Review Green;KidGen_CalcPhos v38.1.0;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Vitamin D-dependent rickets, type I MIM#264700 Abnormality of the kidney;HP:0000077 27473561;34492747;12050193;9486994;33823104;9415400 False 3 100;0;0 8.102 False ENSG00000111012 ENSG00000111012 HGNC:2606 CYP2R1 gene CYP2R1 Expert Review Green;KidGen_CalcPhos v38.1.0;Expert Review Green;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081 Abnormality of the kidney;HP:0000077 28548312;15128933 False 3 100;0;0 8.102 False ENSG00000186104 ENSG00000186104 HGNC:20580 DAAM2 gene DAAM2 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 24, MIM# 619263;steroid-resistant nephrotic syndrome (SRNS) Abnormality of the kidney;HP:0000077 33232676 False 3 100;0;0 8.102 True ENSG00000146122 ENSG00000146122 HGNC:18143 DCDC2 gene DCDC2 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 19, MIM# 616217 Abnormality of the kidney;HP:0000077 25557784;31821705;27469900 False 3 33;67;0 8.102 True ENSG00000146038 ENSG00000146038 HGNC:18141 DGKE gene DGKE Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000153933 ENSG00000153933 HGNC:2852 DGKE gene DGKE Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 7, MIM# 615008 Abnormality of the kidney;HP:0000077 23274426;23542698 False 3 100;0;0 8.102 True ENSG00000153933 ENSG00000153933 HGNC:2852 DHCR7 gene DHCR7 Expert Review Green;NHS GMS;Expert Review Green;Expert list;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome;OMIM #270400 Abnormality of the kidney;HP:0000077 3812577;10069707;23059950;9678700 False 3 100;0;0 8.102 True ENSG00000172893 ENSG00000172893 HGNC:2860 DLC1 gene DLC1 Expert Review Green;Expert list;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Neprhotic syndrome Abnormality of the kidney;HP:0000077 29773874 False 3 100;0;0 8.102 True ENSG00000164741 ENSG00000164741 HGNC:2897 DLG5 gene DLG5 Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Yuksel-Vogel-Bauer syndrome, MIM#620703 Abnormality of the kidney;HP:0000077 32631816 False 3 100;0;0 8.102 True ENSG00000151208 ENSG00000151208 HGNC:2904 DMP1 gene DMP1 Expert Review Green;KidGen_CalcPhos v38.1.0;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets MIM#241520 Abnormality of the kidney;HP:0000077 32920683;17033621;17033625 False 3 100;0;0 8.102 False ENSG00000152592 ENSG00000152592 HGNC:2932 DNAJB11 gene DNAJB11 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 Abnormality of the kidney;HP:0000077 29706351;29777155 False 3 100;0;0 8.102 True ENSG00000090520 ENSG00000090520 HGNC:14889 DNAJB11 gene DNAJB11 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061;Ivermark II syndrome. Abnormality of the kidney;HP:0000077 29706351;29777155;33129895 False 3 100;0;0 8.102 True ENSG00000090520 ENSG00000090520 HGNC:14889 DYNC2H1 gene DYNC2H1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091;MONDO:0013127MONDO:0013127 Abnormality of the kidney;HP:0000077 31730820 False 3 100;0;0 8.102 True ENSG00000187240 ENSG00000187240 HGNC:2962 DYRK1A gene DYRK1A Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 7 (MIM#614104) Abnormality of the kidney;HP:0000077 25707398;31263215 False 3 100;0;0 8.102 True ENSG00000157540 ENSG00000157540 HGNC:3091 DZIP1L gene DZIP1L Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 5, MIM#617610 Abnormality of the kidney;HP:0000077 28530676 False 3 100;0;0 8.102 True ENSG00000158163 ENSG00000158163 HGNC:26551 EHHADH gene EHHADH Expert Review Green;KidGen_Tubulopathies v38.1.0;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 3, MIM#615605 Abnormality of the kidney;HP:0000077 24401050;35738466;38310177 False 3 33;33;33 8.102 True ENSG00000113790 ENSG00000113790 HGNC:3247 ENPP1 gene ENPP1 Expert Review Green;KidGen_CalcPhos v38.1.0;Expert Review Green;Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arterial calcification, generalized, of infancy, 1, MIM# 208000;Cole disease, MIM# 615522;Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312 Abnormality of the kidney;HP:0000077 15605415;20016754;12881724;20137772;20137773;33005041;35220637;28964717;24075184;26617416;32598042 False 3 100;0;0 8.102 False ENSG00000197594 ENSG00000197594 HGNC:3356 EXOC3L2 gene EXOC3L2 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Brain malformation renal syndrome, MIM# 620943" Abnormality of the kidney;HP:0000077 30327448;28749478;27894351 False 3 100;0;0 8.102 True ENSG00000130201 ENSG00000283632 HGNC:30162 EYA1 gene EYA1 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000104313 ENSG00000104313 HGNC:3519 FAH gene FAH Expert Review Green;Expert list;Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Tyrosinemia type I MONDO:0010161 Abnormality of the kidney;HP:0000077 8318997;8364576;8253378;1401056;25681080 False 3 100;0;0 8.102 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM111A gene FAM111A Expert Review Green;KidGen_Magnesium v38.1.0;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant Kenny-Caffey syndrome MONDO:0007478 Abnormality of the kidney;HP:0000077 33010201;32996714;23684011;32765931 False 3 100;0;0 8.102 False ENSG00000166801 ENSG00000166801 HGNC:24725 FAM20A gene FAM20A Expert Review Green;KidGen_CalcPhos v38.1.0;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690 Abnormality of the kidney;HP:0000077 24196488;23697977;23434854;23468644;25827751;24756937;21549343;24259279;21990045;26502894 False 3 100;0;0 8.102 False ENSG00000108950 ENSG00000108950 HGNC:23015 FAM20C gene FAM20C Expert Review Green;Expert list;Expert Review Green;Expert list;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal MONDO:0009821;Raine syndrome, MIM# 259775 Abnormality of the kidney;HP:0000077 32833257;19250384;20825432;33676444;32299476 False 3 100;0;0 8.102 False ENSG00000177706 ENSG00000177706 HGNC:22140 FAM58A gene FAM58A Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Other STAR syndrome, MIM# 300707 Abnormality of the kidney;HP:0000077 28225384;18297069 False 3 100;0;0 8.102 True - ENSG00000262919 HGNC:28434 FAN1 gene FAN1 Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Interstitial nephritis, karyomegalic, MIM# 614817" Abnormality of the kidney;HP:0000077 22772369;16678356;7847351;8546134 False 3 100;0;0 8.102 True ENSG00000198690 ENSG00000198690 HGNC:29170 FAN1 gene FAN1 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Interstitial nephritis, karyomegalic, MIM# 614817 Abnormality of the kidney;HP:0000077 PubMed: 22772369;16678356;7847351;8546134 False 3 100;0;0 8.102 True ENSG00000198690 ENSG00000198690 HGNC:29170 FAT1 gene FAT1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal facial dysmorphism;colobomatous microphthalmia;ptosis;syndactyly with or without nephropathy Abnormality of the kidney;HP:0000077 30862798;26905694;32902815 False 3 100;0;0 8.102 True ENSG00000083857 ENSG00000083857 HGNC:3595 FGA gene FGA Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, familial visceral, MIM#105200 Abnormality of the kidney;HP:0000077 PubMed: 8097946;8639778;12050338;31064749;17295221;19073821;11739173 False 3 100;0;0 8.102 True ENSG00000171560 ENSG00000171560 HGNC:3661 FGF23 gene FGF23 Expert Review Green;KidGen_CalcPhos v38.1.0;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal autosomal dominant hypophosphatemic rickets MONDO:0008660;familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251 Abnormality of the kidney;HP:0000077 25378588;34444516;16151858;16030159;15590700;11062477;14966565 False 3 100;0;0 8.102 False ENSG00000118972 ENSG00000118972 HGNC:3680 FN1 gene FN1 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Glomerulopathy with fibronectin deposits 2, MIM# 601894" Abnormality of the kidney;HP:0000077 18268355 False 3 100;0;0 8.102 True ENSG00000115414 ENSG00000115414 HGNC:3778 FOXI1 gene FOXI1 Expert Review Green;Literature;Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive distal renal tubular acidosis MONDO:0018440 Abnormality of the kidney;HP:0000077 12642503;29242249;9843211 False 3 100;0;0 8.102 False ENSG00000168269 ENSG00000168269 HGNC:3815 FOXP1 gene FOXP1 Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mental retardation with language impairment and with or without autistic features, MIM# 613670" Abnormality of the kidney;HP:0000077 27657687 False 3 100;0;0 8.102 True ENSG00000114861 ENSG00000114861 HGNC:3823 FRAS1 gene FRAS1 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000150893 ENSG00000150893 HGNC:25396 GALNT3 gene GALNT3 Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 Abnormality of the kidney;HP:0000077 20358599;32125652;15133511 False 3 100;0;0 8.102 False ENSG00000115339 ENSG00000115339 HGNC:4125 GANAB gene GANAB Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 3, MIM# 600666 Abnormality of the kidney;HP:0000077 27259053 False 3 100;0;0 8.102 True ENSG00000089597 ENSG00000089597 HGNC:4138 GATA3 gene GATA3 Expert Review Green;Expert list;Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255 Abnormality of the kidney;HP:0000077 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722 False 3 100;0;0 8.102 False ENSG00000107485 ENSG00000107485 HGNC:4172 GATA3 gene GATA3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Abnormality of the kidney;HP:0000077 10935639;11389161;21120445;26316437;25771973;27387476;30396722 False 3 100;0;0 8.102 True ENSG00000107485 ENSG00000107485 HGNC:4172 GATM gene GATM Expert Review Green;KidGen_Tubulopathies v38.1.0;Expert Review Green;Expert list;Expert Review Green;NHS GMS;Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 1, MIM# 134600 Abnormality of the kidney;HP:0000077 29654216 False 3 100;0;0 8.102 False ENSG00000171766 ENSG00000171766 HGNC:4175 GCM2 gene GCM2 Expert Review Green;Expert list;Expert Review Green;Expert list;Expert Review Green;Expert Review Green;Literature;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hyperparathyroidism 4, OMIM #617343;Hypoparathyroidism, familial isolated 2, OMIM #618883 Abnormality of the kidney;HP:0000077 27745835, 20190276, 34967908, 35038313 False 3 100;0;0 8.102 False ENSG00000124827 ENSG00000124827 HGNC:4198 GDF6 gene GDF6 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic CAKUT Abnormality of the kidney;HP:0000077 32737436 False 3 67;0;33 8.102 True ENSG00000156466 ENSG00000156466 HGNC:4221 GFRA1 gene GFRA1 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 4, MIM# 619887 Abnormality of the kidney;HP:0000077 33020172;34737117 False 3 100;0;0 8.102 True ENSG00000151892 ENSG00000151892 HGNC:4243 GLA gene GLA Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Fabry disease, MIM# 301500" Abnormality of the kidney;HP:0000077 18033242 False 3 100;0;0 8.102 True ENSG00000102393 ENSG00000102393 HGNC:4296 GLA gene GLA Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease (MIM# 301500) Abnormality of the kidney;HP:0000077 8878432;30681346;31613176 False 3 100;0;0 8.102 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLI3 gene GLI3 Expert Review Green;Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLIS2 gene GLIS2 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 7, OMIM#611498;MONDO:0012680 Abnormality of the kidney;HP:0000077 17618285;23559409;31676329 False 3 50;50;0 8.102 True ENSG00000126603 ENSG00000126603 HGNC:29450 GNA11 gene GNA11 Expert Review Green;KidGen_CalcPhos v38.1.0;Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalciuric hypercalcemia, type II MIM#145981;Hypocalcemia, autosomal dominant 2 MIM#615361 Abnormality of the kidney;HP:0000077 27334330;23802536;23802516;26818911;24823460 False 3 33;0;67 8.102 False ENSG00000088256 ENSG00000088256 HGNC:4379 GNAS gene GNAS Expert Review Green;Expert list;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudohypoparathyroidism Ic (612462) AD;Pituitary adenoma 3, multiple types, somatic (617686);Pseudohypoparathyroidism Ia (103580) AD;Pseudohypoparathyroidism Ib (603233) AD;Osseous heteroplasia, progressive (166350) AD;Pseudopseudohypoparathyroidism (612463) Abnormality of the kidney;HP:0000077 15331575 False 3 100;0;0 8.102 False ENSG00000087460 ENSG00000087460 HGNC:4392 GON7 gene GON7 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 9, MIM# 619603 Abnormality of the kidney;HP:0000077 31481669 False 3 100;0;0 8.102 True ENSG00000170270 ENSG00000170270 HGNC:20356 GPC3 gene GPC3 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000147257 ENSG00000147257 HGNC:4451 GREB1L gene GREB1L Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia/aplasia 3, OMIM# 617805 Abnormality of the kidney;HP:0000077 29100091 False 3 100;0;0 8.102 True ENSG00000141449 ENSG00000141449 HGNC:31042 GRHPR gene GRHPR Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type II, MIM# 260000;MONDO:0009824 Abnormality of the kidney;HP:0000077 11030416;24116921;10484776 False 3 100;0;0 8.102 False ENSG00000137106 ENSG00000137106 HGNC:4570 GRIP1 gene GRIP1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 3 MIM#617667;CAKUT Abnormality of the kidney;HP:0000077 24700879;24357607;22510445 False 3 100;0;0 8.102 True ENSG00000155974 ENSG00000155974 HGNC:18708 GSN gene GSN Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Finnish type, MIM#105200 Abnormality of the kidney;HP:0000077 PubMed: 8395367;2176164;8684801;6975851;29167514 False 3 100;0;0 8.102 True ENSG00000148180 ENSG00000148180 HGNC:4620 HAAO gene HAAO NHS GMS;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660 Abnormality of the kidney;HP:0000077 28792876;33942433 False 3 100;0;0 8.102 True ENSG00000162882 ENSG00000162882 HGNC:4796 HNF1B gene HNF1B Expert Review Green;KidGen_Tubulointerstitial v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, noninsulin-dependent 125853 AD;Renal cysts and diabetes syndrome 137920 AD;{Renal cell carcinoma} 144700 Abnormality of the kidney;HP:0000077 25536396;11845238;15509593 False 3 100;0;0 8.102 True Other ENSG00000108753 ENSG00000275410 HGNC:11630 HNF1B gene HNF1B Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNF1B gene HNF1B Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 0;0;0 8.102 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNF1B gene HNF1B Expert Review Green;Expert list;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, MIM#137920 Abnormality of the kidney;HP:0000077 27234911 False 3 100;0;0 8.102 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MODY, type I, OMIM # 125850;Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026 Abnormality of the kidney;HP:0000077 31875549;30005691;28458902;24285859;22802087 False 3 100;0;0 8.102 False ENSG00000101076 ENSG00000101076 HGNC:5024 HOGA1 gene HOGA1 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type III MIM#613616 Abnormality of the kidney;HP:0000077 21896830;20797690;22391140 False 3 100;0;0 8.102 False ENSG00000241935 ENSG00000241935 HGNC:25155 HOXA13 gene HOXA13 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000106031 ENSG00000106031 HGNC:5102 HPRT1 gene HPRT1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) HPRT-related gout (MIM# 300323);Lesch-Nyhan syndrome (MIM# 300322) Abnormality of the kidney;HP:0000077 20176575 False 3 100;0;0 8.102 False ENSG00000165704 ENSG00000165704 HGNC:5157 HPSE2 gene HPSE2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 1 MIM#236730 Abnormality of the kidney;HP:0000077 25145936;23313374;33558177 False 3 100;0;0 8.102 True ENSG00000172987 ENSG00000172987 HGNC:18374 HS2ST1 gene HS2ST1 Expert Review Green;Expert Review;Expert Review Green;NHS GMS;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Abnormality of the kidney;HP:0000077 33159882 False 3 100;0;0 8.102 True ENSG00000153936 ENSG00000153936 HGNC:5193 HSD11B2 gene HSD11B2 Expert Review Green;KidGen_AldoHypertension v38.1.0;Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal MONDO:0009025;Apparent mineralocorticoid excess, MIM# 218030 Abnormality of the kidney;HP:0000077 7670488;17314322;9683587 False 3 100;0;0 8.102 False ENSG00000176387 ENSG00000176387 HGNC:5209 HSD11B2 gene HSD11B2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Apparent mineralocorticoid excess, MIM# 218030;MONDO:0009025 Abnormality of the kidney;HP:0000077 7670488;9683587;17314322 False 3 100;0;0 8.102 True ENSG00000176387 ENSG00000176387 HGNC:5209 HSD3B2 gene HSD3B2 Expert Review Green;Expert list;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810 Abnormality of the kidney;HP:0000077 1363812, 18252794 False 3 100;0;0 8.102 False ENSG00000203859 ENSG00000203859 HGNC:5218 HSD3B2 gene HSD3B2 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810 Abnormality of the kidney;HP:0000077 PMID: 1363812, 18252794 False 3 100;0;0 8.102 True ENSG00000203859 ENSG00000203859 HGNC:5218 HSPA9 gene HSPA9 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Even-plus syndrome, MIM# 616854;skeletal anomalies;congenital cardiac and renal anomalies: marked small nose" Abnormality of the kidney;HP:0000077 26598328;32869452 False 3 100;0;0 8.102 True ENSG00000113013 ENSG00000113013 HGNC:5244 IFT122 gene IFT122 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1, MIM# 218330;MONDO:0021093 Abnormality of the kidney;HP:0000077 20493458;23826986;28370949;33717254;26792575 False 3 100;0;0 8.102 True ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cystic Kidney Disease, MONDO# 0002473 Abnormality of the kidney;HP:0000077 34890546 False 3 100;0;0 8.102 True ENSG00000187535 ENSG00000187535 HGNC:29077 IFT140 gene IFT140 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920;MONDO:0009964;Cystic Kidney Disease, MONDO# 0002473, IFT140-related, dominant Abnormality of the kidney;HP:0000077 22503633;23418020;34890546 False 3 100;0;0 8.102 True ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20, MIM# 619471;Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Abnormality of the kidney;HP:0000077 30761183;26763875;25168386;24140113 False 3 100;0;0 8.102 True ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert Review Green;Expert list;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, MIM#615996 Abnormality of the kidney;HP:0000077 24488770;30761183;26763875;25443296 False 3 100;0;0 8.102 True ENSG00000100360 ENSG00000100360 HGNC:18626 IFT43 gene IFT43 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866;Cranioectodermal dysplasia 3, MIM# 614099 Abnormality of the kidney;HP:0000077 28400947;21378380;29896747 False 3 100;0;0 8.102 True ENSG00000119650 ENSG00000119650 HGNC:29669 IFT74 gene IFT74 Expert Review Green;Literature;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20 617119 Abnormality of the kidney;HP:0000077 27486776;32144365 False 3 67;33;0 8.102 True ENSG00000096872 ENSG00000096872 HGNC:21424 INF2 gene INF2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455;Glomerulosclerosis, focal segmental, 5, MIM# 613237 Abnormality of the kidney;HP:0000077 22187985;30680856;25943269;20023659 False 3 100;0;0 8.102 True ENSG00000203485 ENSG00000203485 HGNC:23791 INPP5E gene INPP5E Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 1, MIM# 213300;MONDO:0008944 Abnormality of the kidney;HP:0000077 19668216;32139166;29230161;29052317;27998989;27401686 False 3 100;0;0 8.102 True ENSG00000148384 ENSG00000148384 HGNC:21474 INVS gene INVS Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, (MIM#602088) Abnormality of the kidney;HP:0000077 12872123;19177160 False 3 100;0;0 8.102 True ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5, MIM# 609254;MONDO:0012225 Abnormality of the kidney;HP:0000077 15723066;21220633;20881296;21901789;33512896;33535056;29219953 False 3 100;0;0 8.102 True ENSG00000173226 ENSG00000173226 HGNC:28949 ITGA3 gene ITGA3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Abnormality of the kidney;HP:0000077 22512483;25810266;27717396;32198874;26854491 False 3 100;0;0 8.102 True ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA8 gene ITGA8 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 1, MIM# 191830 Abnormality of the kidney;HP:0000077 24439109 False 3 100;0;0 8.102 True ENSG00000077943 ENSG00000077943 HGNC:6144 ITSN1 gene ITSN1 Expert Review Green;Expert Review Green;Expert list;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome Abnormality of the kidney;HP:0000077 PMID: 29773874 False 3 100;0;0 8.102 True ENSG00000205726 ENSG00000205726 HGNC:6183 ITSN2 gene ITSN2 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome Abnormality of the kidney;HP:0000077 PMID: 29773874 False 3 100;0;0 8.102 True ENSG00000198399 ENSG00000198399 HGNC:6184 JAG1 gene JAG1 Expert Review Green;Literature;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 50;50;0 8.102 False ENSG00000101384 ENSG00000101384 HGNC:6188 KANK2 gene KANK2 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 16, MIM#617783 Abnormality of the kidney;HP:0000077 25961457 False 3 100;0;0 8.102 True ENSG00000197256 ENSG00000197256 HGNC:29300 KCNA1 gene KCNA1 Expert Review Green;KidGen_Magnesium v38.1.0;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, MONDO:0005027, KCNA1-related;Episodic ataxia/myokymia syndrome, MIM# 160120 Abnormality of the kidney;HP:0000077 32316562;11026449 False 3 100;0;0 8.102 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNJ1 gene KCNJ1 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 2, MIM#241200 Abnormality of the kidney;HP:0000077 19096086;12086641;8841184;9580661;12122007;7635463 False 3 100;0;0 8.102 False ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ10 gene KCNJ10 Expert Review Green;KidGen_Magnesium v38.1.0;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal SESAME syndrome, MIM# 612780 Abnormality of the kidney;HP:0000077 21849804;19420365;19289823;11466414 False 3 100;0;0 8.102 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ16 gene KCNJ16 Expert Review Green;Literature;Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal deafness;Renal tubulopathy;Inherited renal tubular disease, MONDO:0015962, KCNJ16-related Abnormality of the kidney;HP:0000077 33811157;33840812 False 3 100;0;0 8.102 False ENSG00000153822 ENSG00000153822 HGNC:6262 KCNJ5 gene KCNJ5 Expert Review Green;KidGen_AldoHypertension v38.1.0;Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type III, MIM# 613677 Abnormality of the kidney;HP:0000077 24574546;22203740;24420545;21311022 False 3 100;0;0 8.102 False ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ5 gene KCNJ5 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type III, MIM# 613677 Abnormality of the kidney;HP:0000077 21311022;22203740;24420545;24574546 False 3 100;0;0 8.102 True ENSG00000120457 ENSG00000120457 HGNC:6266 KDM6A gene KDM6A Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIF14 gene KIF14 Expert Review Green;Expert Review Green;Literature;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 20, primary, autosomal recessive, OMIM #617914;?Meckel syndrome 12, OMIM #616258 Abnormality of the kidney;HP:0000077 PMID: 30388224. 24128419 False 3 100;0;0 8.102 True ENSG00000118193 ENSG00000118193 HGNC:19181 KLHL3 gene KLHL3 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type IID, MIM# 614495 Abnormality of the kidney;HP:0000077 22266938;22406640;24821705;34022862;32462939 False 3 100;0;0 8.102 True ENSG00000146021 ENSG00000146021 HGNC:6354 KLHL3 gene KLHL3 Expert Review Green;KidGen_AldoHypertension v38.1.0;Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type IID, MIM# 614495 Abnormality of the kidney;HP:0000077 24821705;34022862;22406640;22266938;32462939 False 3 100;0;0 8.102 False ENSG00000146021 ENSG00000146021 HGNC:6354 KMT2D gene KMT2D Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000167548 ENSG00000167548 HGNC:7133 KYNU gene KYNU NHS GMS;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661 Abnormality of the kidney;HP:0000077 28792876 False 3 100;0;0 8.102 True ENSG00000115919 ENSG00000115919 HGNC:6469 LAGE3 gene LAGE3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Galloway-Mowat syndrome 2, X-linked, MIM# 301006 Abnormality of the kidney;HP:0000077 28805828 False 3 100;0;0 8.102 True ENSG00000196976 ENSG00000196976 HGNC:26058 LAMA5 gene LAMA5 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 26 620049 Abnormality of the kidney;HP:0000077 29534211;16790509;29764427;30808327;24130771 False 3 60;40;0 8.102 True ENSG00000130702 ENSG00000130702 HGNC:6485 LAMB2 gene LAMB2 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Pierson syndrome, MIM# 609049;Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199 Abnormality of the kidney;HP:0000077 14136829;15372515;17256789 False 3 100;0;0 8.102 True ENSG00000172037 ENSG00000172037 HGNC:6487 LCAT gene LCAT Expert Review Green;KidGen_MetabolicRenal v38.1.0;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900;Fish-Eye disease, MIM# 136120 Abnormality of the kidney;HP:0000077 6624548;30720493 False 3 100;0;0 8.102 False ENSG00000213398 ENSG00000213398 HGNC:6522 LCAT gene LCAT Expert Review Green;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Norum disease, MIM# 245900" Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000213398 ENSG00000213398 HGNC:6522 LIFR gene LIFR Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT MONDO:0019719, LIFR-related Abnormality of the kidney;HP:0000077 28334964;38025229 False 3 50;50;0 8.102 True ENSG00000113594 ENSG00000113594 HGNC:6597 LMX1B gene LMX1B Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome (MIM#161200), MONDO:0008061;LMX1B-related nephropathy;Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020 Abnormality of the kidney;HP:0000077 27450397;32457516 False 3 100;0;0 8.102 True ENSG00000136944 ENSG00000136944 HGNC:6654 LRIG2 gene LRIG2 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000198799 ENSG00000198799 HGNC:20889 LRP2 gene LRP2 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, MIM#222448 Abnormality of the kidney;HP:0000077 PMID: 17632512 False 3 100;0;0 8.102 True ENSG00000081479 ENSG00000081479 HGNC:6694 LRP4 gene LRP4 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000134569 ENSG00000134569 HGNC:6696 LYZ gene LYZ Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, renal, MIM#105200 Abnormality of the kidney;HP:0000077 PubMed: 1808634;8464497;15745733, False 3 100;0;0 8.102 True ENSG00000090382 ENSG00000090382 HGNC:6740 LZTFL1 gene LZTFL1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17 (MIM#615994) Abnormality of the kidney;HP:0000077 22510444;23692385;27312011;22072986 False 3 100;0;0 8.102 True ENSG00000163818 ENSG00000163818 HGNC:6741 MAFB gene MAFB Expert Review Green;Expert Review Green;Literature;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multicentric carpotarsal osteolysis syndrome, OMIM#166300 Abnormality of the kidney;HP:0000077 PMID: 30208859;29396697;23956186 False 3 100;0;0 8.102 True ENSG00000204103 ENSG00000204103 HGNC:6408 MAGED2 gene MAGED2 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Bartter syndrome, type 5, antenatal, transient, MIM# 300971 Abnormality of the kidney;HP:0000077 34895150;35668994;27120771 False 3 50;50;0 8.102 False ENSG00000102316 ENSG00000102316 HGNC:16353 MAGI2 gene MAGI2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 15, MIM# 617609 Abnormality of the kidney;HP:0000077 27932480;25108225;25271328;31171376;31010479 False 3 100;0;0 8.102 True ENSG00000187391 ENSG00000187391 HGNC:18957 MAPKBP1 gene MAPKBP1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 20, MIM# 617271;MONDO:0014997 Abnormality of the kidney;HP:0000077 28089251;33623699;32505465;32055034 False 3 100;0;0 8.102 True ENSG00000137802 ENSG00000137802 HGNC:29536 MEN1 gene MEN1 Expert Review Green;Expert list;Expert list;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia 1 MIM#131100 Abnormality of the kidney;HP:0000077 31797261, 14985373 False 3 100;0;0 8.102 False ENSG00000133895 ENSG00000133895 HGNC:7010 MKKS gene MKKS Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6 (MIM#605231);McKusick-Kaufman syndrome, MIM# 236700 Abnormality of the kidney;HP:0000077 10802661;10973251 False 3 100;0;0 8.102 True ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 13, MIM# 615990;MONDO:0014441;Meckel syndrome 1, MIM# 249000 Abnormality of the kidney;HP:0000077 18327255;24608809;17377820 False 3 100;0;0 8.102 True ENSG00000011143 ENSG00000011143 HGNC:7121 MMACHC gene MMACHC NHS GMS;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000132763 ENSG00000132763 HGNC:24525 MOCOS gene MOCOS Expert Review Green;Expert Review;Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Xanthinuria type II, MIM#603592 Abnormality of the kidney;HP:0000077 17368066;34356852;11302742;32073534;14624414;27919260;25967871;30758870 False 3 100;0;0 8.102 False ENSG00000075643 ENSG00000075643 HGNC:18234 MUC1 gene MUC1 Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 0;0;0 8.102 False ENSG00000185499 ENSG00000185499 HGNC:7508 MUC1 gene MUC1 Expert Review Green;KidGen_Tubulointerstitial v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Medullary cystic kidney disease 1, MIM# 174000 Abnormality of the kidney;HP:0000077 23396133 False 3 100;0;0 8.102 True ENSG00000185499 ENSG00000185499 HGNC:7508 MUT gene MUT Expert Review Green;KidGen_MetabolicRenal v38.1.0;KidGen_MetabolicRenal v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, mut(0) type, MIM# 251000 Abnormality of the kidney;HP:0000077 1977311;11528502;12948746 False 3 100;0;0 8.102 True ENSG00000146085 ENSG00000146085 HGNC:7526 MYH9 gene MYH9 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYH9 gene MYH9 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000100345 ENSG00000100345 HGNC:7579 MYO1E gene MYO1E Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Glomerulosclerosis, focal segmental, 6, MIM# 614131 Abnormality of the kidney;HP:0000077 21756023;31520189;25739341;23977349 False 3 100;0;0 8.102 True ENSG00000157483 ENSG00000157483 HGNC:7599 MYOCD gene MYOCD Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megabladder;congenital heart disease;cardiomyopathy Abnormality of the kidney;HP:0000077 31513549 False 3 100;0;0 8.102 True ENSG00000141052 ENSG00000141052 HGNC:16067 NADSYN1 gene NADSYN1 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077;Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845 Abnormality of the kidney;HP:0000077 31883644 False 3 100;0;0 8.102 True ENSG00000172890 ENSG00000172890 HGNC:29832 NEK1 gene NEK1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Abnormality of the kidney;HP:0000077 21211617;22499340;25492405;28123176 False 3 100;0;0 8.102 True ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 2, MIM# 615415;MONDO:0014174;Familial renal cystic disease MONDO:0019741, NEK8-related, dominant Abnormality of the kidney;HP:0000077 33131162;23418306;26862157;26697755;26967905;23274954;31633649 False 3 100;0;0 8.102 True ENSG00000160602 ENSG00000160602 HGNC:13387 NEK8 gene NEK8 Expert Review Green;Other Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 8, MIM# 620903 Abnormality of the kidney;HP:0000077 37598857 False 3 67;33;0 8.102 True Other ENSG00000160602 ENSG00000160602 HGNC:13387 NFIA gene NFIA Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain malformations with or without urinary tract defects - MIM#613735 Abnormality of the kidney;HP:0000077 35018717;33973697;32926563 False 3 100;0;0 8.102 True ENSG00000162599 ENSG00000162599 HGNC:7784 NIPBL gene NIPBL Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000164190 ENSG00000164190 HGNC:28862 NLRP3 gene NLRP3 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muckle-Wells syndrome, MIM#191900 Abnormality of the kidney;HP:0000077 PubMed: 11687797;28229991;27435956;31057541 False 3 100;0;0 8.102 True ENSG00000162711 ENSG00000162711 HGNC:16400 NOS1AP gene NOS1AP Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 22, MIM# 619155 Abnormality of the kidney;HP:0000077 False 3 50;0;50 8.102 True ENSG00000198929 ENSG00000198929 HGNC:16859 NOTCH2 gene NOTCH2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 2 (MIM#610205);Hajdu-Cheney syndrome (MIM#102500) Abnormality of the kidney;HP:0000077 16773578;21378985;21378989 False 3 100;0;0 8.102 True ENSG00000134250 ENSG00000134250 HGNC:7882 NPHP1 gene NPHP1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 1, juvenile, MIM# 256100 Abnormality of the kidney;HP:0000077 23559409 False 3 100;0;0 8.102 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 3, MIM# 604387;Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 Abnormality of the kidney;HP:0000077 19177160;34013113;33323469;32341812;28921755 False 3 100;0;0 8.102 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP3 gene NPHP3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 Abnormality of the kidney;HP:0000077 False 3 50;0;50 8.102 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4, MIM# 606966;Senior-Loken syndrome 4, MIM# 606996 Abnormality of the kidney;HP:0000077 12244321;12205563;34013113 False 3 100;0;0 8.102 True ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 2 (MIM#600995), AR Abnormality of the kidney;HP:0000077 32467597;30260545;24509478 False 3 100;0;0 8.102 True ENSG00000116218 ENSG00000116218 HGNC:13394 NPNT gene NPNT Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal agenesis, MONDO:0018470, NPNT-related Abnormality of the kidney;HP:0000077 PMID: 35246978;34049960;17537792 False 3 100;0;0 8.102 True ENSG00000168743 ENSG00000168743 HGNC:27405 NPR1 gene NPR1 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Genetic hypertension MONDO:0015512 Abnormality of the kidney;HP:0000077 PMID: 37080586 False 3 100;0;0 8.102 True ENSG00000169418 ENSG00000169418 HGNC:7943 NR3C1 gene NR3C1 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glucocorticoid resistance, OMIM # 615962 Abnormality of the kidney;HP:0000077 PubMed: 12754700, 1704018, 8445027, 31995340 False 3 100;0;0 8.102 True ENSG00000113580 ENSG00000113580 HGNC:7978 NR3C1 gene NR3C1 Expert Review Green;Literature;Expert Review Green;Literature;KidGen_MetabolicRenal v38.1.0;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glucocorticoid resistance, OMIM # 615962 Abnormality of the kidney;HP:0000077 12754700, 1704018, 8445027, 31995340 False 3 100;0;0 8.102 False ENSG00000113580 ENSG00000113580 HGNC:7978 NR3C2 gene NR3C2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735;MONDO:0008329 Abnormality of the kidney;HP:0000077 9662404;11134129;11344206;12788847;16972228 False 3 100;0;0 8.102 True ENSG00000151623 ENSG00000151623 HGNC:7979 NR3C2 gene NR3C2 Expert Review Green;KidGen_AldoHypertension v38.1.0;Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735;MONDO:0008329 Abnormality of the kidney;HP:0000077 11134129;11344206;9662404;16972228;12788847 False 3 100;0;0 8.102 False ENSG00000151623 ENSG00000151623 HGNC:7979 NR6A1 gene NR6A1 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial microsomia MONDO:0015397 Abnormality of the kidney;HP:0000077 39606382 False 3 100;0;0 8.102 True ENSG00000148200 ENSG00000148200 HGNC:7985 NUP107 gene NUP107 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 7, MIM# 618348 Abnormality of the kidney;HP:0000077 28280135;28117080;30179222;25558065 False 3 100;0;0 8.102 True ENSG00000111581 ENSG00000111581 HGNC:29914 NUP133 gene NUP133 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 18, MIM#618177 Abnormality of the kidney;HP:0000077 30179222 False 3 100;0;0 8.102 True ENSG00000069248 ENSG00000069248 HGNC:18016 NUP160 gene NUP160 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 19, MIM#618178 Abnormality of the kidney;HP:0000077 30179222 False 3 100;0;0 8.102 True ENSG00000030066 ENSG00000030066 HGNC:18017 NUP85 gene NUP85 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 17, MIM#618176 Abnormality of the kidney;HP:0000077 30179222 False 3 100;0;0 8.102 True ENSG00000125450 ENSG00000125450 HGNC:8734 NUP93 gene NUP93 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 12, MIM#616892 Abnormality of the kidney;HP:0000077 26878725 False 3 100;0;0 8.102 True ENSG00000102900 ENSG00000102900 HGNC:28958 OCRL gene OCRL Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease 2, MIM#300555;Lowe syndrome, MIM#309000 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000122126 ENSG00000122126 HGNC:8108 OCRL gene OCRL Expert Review Green;Expert list;Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Dent disease 2, MIM #300555;Lowe syndrome, MIM# 309000 Abnormality of the kidney;HP:0000077 19773212, 27625797 False 3 100;0;0 8.102 False ENSG00000122126 ENSG00000122126 HGNC:8108 OFD1 gene OFD1 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Orofaciodigital syndrome I, MIM# 311200;Joubert syndrome 10, MIM# 300804 Abnormality of the kidney;HP:0000077 19800048;22353940 False 3 100;0;0 8.102 True ENSG00000046651 ENSG00000046651 HGNC:2567 OSGEP gene OSGEP Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 3, MIM# 617729 Abnormality of the kidney;HP:0000077 28805828;28272532 False 3 100;0;0 8.102 True ENSG00000092094 ENSG00000092094 HGNC:18028 P3H2 gene P3H2 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Myopia, high, with cataract and vitreoretinal degeneration (MIM# 614292);Proteinuria, P3H2-related MONDO:0003634 Abnormality of the kidney;HP:0000077 35499085 False 3 100;0;0 8.102 True ENSG00000090530 ENSG00000090530 HGNC:19317 PAN2 gene PAN2 Expert Review Green;Literature;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254 Abnormality of the kidney;HP:0000077 PMID:35304602;29620724 False 3 100;0;0 8.102 True ENSG00000135473 ENSG00000135473 HGNC:20074 PAX2 gene PAX2 Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000075891 ENSG00000075891 HGNC:8616 PAX2 gene PAX2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 7, MIM#616002 Abnormality of the kidney;HP:0000077 24676634 False 3 100;0;0 8.102 True ENSG00000075891 ENSG00000075891 HGNC:8616 PBX1 gene PBX1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641 Abnormality of the kidney;HP:0000077 28566479;29036646 False 3 100;0;0 8.102 True ENSG00000185630 ENSG00000185630 HGNC:8632 PCBD1 gene PCBD1 Expert Review Green;KidGen_Magnesium v38.1.0;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 Abnormality of the kidney;HP:0000077 24848070;24204001 False 3 100;0;0 8.102 False ENSG00000166228 ENSG00000166228 HGNC:8646 PDE3A gene PDE3A Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertension and brachydactyly syndrome, MIM# 112410 Abnormality of the kidney;HP:0000077 25961942 False 3 0;0;0 8.102 True ENSG00000172572 ENSG00000172572 HGNC:8778 PDE3A gene PDE3A Expert Review Green;KidGen_AldoHypertension v38.1.0;Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertension and brachydactyly syndrome, MIM# 112410 Abnormality of the kidney;HP:0000077 25961942 False 3 0;0;0 8.102 False ENSG00000172572 ENSG00000172572 HGNC:8778 PDSS2 gene PDSS2 Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000164494 ENSG00000164494 HGNC:23041 PHEX gene PHEX Expert Review Green;Literature;Expert Review Green;Literature;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hypophosphatemic rickets, X-linked dominant;OMIM #307800 Abnormality of the kidney;HP:0000077 31065622 False 3 100;0;0 8.102 False ENSG00000102174 ENSG00000102174 HGNC:8918 PKD1 gene PKD1 Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 1, MIM# 173900 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 2, MIM#613095 AD Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Abnormality of the kidney;HP:0000077 False 3 50;50;0 8.102 True ENSG00000170927 ENSG00000170927 HGNC:9016 PKHD1 gene PKHD1 Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200" Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000170927 ENSG00000170927 HGNC:9016 PLCE1 gene PLCE1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 3, MIM# 610725 Abnormality of the kidney;HP:0000077 17086182;18065803;20591883 False 3 100;0;0 8.102 True ENSG00000138193 ENSG00000138193 HGNC:17175 PMM2 gene PMM2 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related Abnormality of the kidney;HP:0000077 28373276;32595772 False 3 100;0;0 8.102 True ENSG00000140650 ENSG00000140650 HGNC:9115 PODXL gene PODXL Expert Review Green;Expert Review Green;Literature;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nephrotic syndrome Abnormality of the kidney;HP:0000077 PMID: 30523047, 29244787, 28117080, 24048372 False 3 100;0;0 8.102 True ENSG00000128567 ENSG00000128567 HGNC:9171 PRKCSH gene PRKCSH Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 1, MIM# 174050, with or without kidney cysts Abnormality of the kidney;HP:0000077 12577059 False 3 50;50;0 8.102 True ENSG00000130175 ENSG00000130175 HGNC:9411 PSKH1 gene PSKH1 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 13, MIM# 620962 Abnormality of the kidney;HP:0000077 PMID: 39132680 False 3 100;0;0 8.102 True ENSG00000159792 ENSG00000159792 HGNC:9529 PTH gene PTH Expert Review Green;Expert list;Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypoparathyroidism, familial isolated 1, MIM# 146200 Abnormality of the kidney;HP:0000077 2212001, 1302009, 10523031, 35165722, 32421798 False 3 100;0;0 8.102 False ENSG00000152266 ENSG00000152266 HGNC:9606 PTH1R gene PTH1R Expert Review Green;KidGen_CalcPhos v38.1.0;Expert Review Green;Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400;Failure of tooth eruption, primary MIM#125350;Eiken syndrome MIM#600002;Chondrodysplasia, Blomstrand type MIM#215045 Abnormality of the kidney;HP:0000077 7701349;17164305;8855805;15525660;19061984 False 3 100;0;0 8.102 False ENSG00000160801 ENSG00000160801 HGNC:9608 PTPRO gene PTPRO Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 6, MIM# 614196 Abnormality of the kidney;HP:0000077 21722858;34546508;30065916 False 3 100;0;0 8.102 True ENSG00000151490 ENSG00000151490 HGNC:9678 REN gene REN Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 Abnormality of the kidney;HP:0000077 PMID: 16116425 False 3 100;0;0 8.102 False ENSG00000143839 ENSG00000143839 HGNC:9958 REN gene REN Expert Review Green;KidGen_Tubulointerstitial v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant tubulointerstitial disease Abnormality of the kidney;HP:0000077 31586593;31406136;28701203;21473025 False 3 100;0;0 8.102 True ENSG00000143839 ENSG00000143839 HGNC:9958 RET gene RET Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 0;0;0 8.102 False ENSG00000165731 ENSG00000165731 HGNC:9967 RET gene RET Expert Review Green;Expert list;Expert Review Green;Expert list;Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia IIB, MIM# 162300;Multiple endocrine neoplasia IIA, MIM# 171400 Abnormality of the kidney;HP:0000077 8099202;7906866 False 3 100;0;0 8.102 False ENSG00000165731 ENSG00000165731 HGNC:9967 RMND1 gene RMND1 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11 MIM#614922 Abnormality of the kidney;HP:0000077 18835491;23022099;25604853;23022098;26395190 False 3 100;0;0 8.102 False ENSG00000155906 ENSG00000155906 HGNC:21176 ROBO1 gene ROBO1 Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Neurooculorenal syndrome, MIM# 620305" Abnormality of the kidney;HP:0000077 PMID: 35227688 False 3 100;0;0 8.102 True ENSG00000169855 ENSG00000169855 HGNC:10249 ROBO2 gene ROBO2 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000185008 ENSG00000185008 HGNC:10250 ROR2 gene ROR2 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000169071 ENSG00000169071 HGNC:10257 RPGRIP1L gene RPGRIP1L Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7, MIM# 611560;Meckel syndrome 5, MIM# 611561;COACH syndrome 3, MIM# 619113;Nephronophthisis Abnormality of the kidney;HP:0000077 17558409;17558407;17960139;26071364 False 3 100;0;0 8.102 True ENSG00000103494 ENSG00000103494 HGNC:29168 RRAGD gene RRAGD Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited renal tubular disease, MONDO:0015962, RRAGD-related;dilated cardiomyopathy;hypomagnesaemia;renal salt-wasting;nephrocalcinosis Abnormality of the kidney;HP:0000077 34607910 False 3 100;0;0 8.102 True ENSG00000025039 ENSG00000025039 HGNC:19903 RRM2B gene RRM2B Expert Review Green;KidGen_MetabolicRenal v38.1.0;Expert Review Green;KidGen_MetabolicRenal v38.1.0;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315;Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075 Abnormality of the kidney;HP:0000077 32827185;24741716 False 3 100;0;0 8.102 False ENSG00000048392 ENSG00000048392 HGNC:17296 SALL1 gene SALL1 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SALL4- related disorders Abnormality of the kidney;HP:0000077 20301547 False 3 100;0;0 8.102 True ENSG00000101115 ENSG00000101115 HGNC:15924 SARS2 gene SARS2 Expert Review Green;KidGen_Magnesium v38.1.0;Expert Review Green;KidGen_MetabolicRenal v38.1.0;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO#070009, SARS1-related Abnormality of the kidney;HP:0000077 35790048;28236339;36041817;34570399 False 3 100;0;0 8.102 False ENSG00000104835 ENSG00000104835 HGNC:17697 SCARB2 gene SCARB2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Progressive Myoclonus Epilepsy, MONDO:0020074;Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 Abnormality of the kidney;HP:0000077 18308289;18424452;23659519;19847901;18022370;19933215 False 3 100;0;0 8.102 True ENSG00000138760 ENSG00000138760 HGNC:1665 SCLT1 gene SCLT1 Expert Review Green;Expert list;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome;Bardet-Biedl syndrome Abnormality of the kidney;HP:0000077 28486600;30425282;30237576;28005958;24285566 False 3 33;33;33 8.102 True ENSG00000151466 ENSG00000151466 HGNC:26406 SCN4A gene SCN4A Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390;Myasthenic syndrome, congenital, 16, MIM# 614198;Hypokalemic periodic paralysis, type 2, MIM# 613345;Paramyotonia congenita , MIM#168300;Hyperkalemic periodic paralysis, type 2, MIM# 170500 Abnormality of the kidney;HP:0000077 34671263;11591859;8385748 False 3 100;0;0 8.102 False ENSG00000007314 ENSG00000007314 HGNC:10591 SCNN1A gene SCNN1A Expert Review Green;KidGen_AldoHypertension v38.1.0;Expert Review Red;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bronchiectasis with or without elevated sweat chloride 2 613021 AD;Pseudohypoaldosteronism, type I 264350 AR.;?Liddle syndrome 3 618126 AD Abnormality of the kidney;HP:0000077 28710092;31301676 False 3 0;0;100 8.102 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1A gene SCNN1A Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Liddle syndrome 3 618126 AD;Bronchiectasis with or without elevated sweat chloride 2 613021 AD;Pseudohypoaldosteronism, type I 264350 AR. Abnormality of the kidney;HP:0000077 31301676;28710092 False 3 0;0;0 8.102 True Other ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Liddle syndrome 1, MIM# 177200;Pseudohypoaldosteronism, type I, MIM# 264350 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1B gene SCNN1B Expert Review Green;KidGen_AldoHypertension v38.1.0;Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, MIM# 264350;Liddle syndrome 1, MIM# 177200 Abnormality of the kidney;HP:0000077 8589714 False 3 100;0;0 8.102 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Liddle syndrome 2, MIM# 618114;Pseudohypoaldosteronism, type I, MIM# 264350 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000166828 ENSG00000166828 HGNC:10602 SCNN1G gene SCNN1G Expert Review Green;KidGen_AldoHypertension v38.1.0;Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, MIM# 264350;Liddle syndrome 2, MIM# 618114 Abnormality of the kidney;HP:0000077 22207244;31655555;28484659;30801930 False 3 100;0;0 8.102 False ENSG00000166828 ENSG00000166828 HGNC:10602 SDCCAG8 gene SDCCAG8 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 16, MIM# 615993;MONDO:0014444;Senior-Loken syndrome 7, MIM# 613615;MONDO:0013326;Nephronophthisis Abnormality of the kidney;HP:0000077 20835237;22626039;22626039;32432520;31534065;26968886 False 3 100;0;0 8.102 True ENSG00000054282 ENSG00000054282 HGNC:10671 SEC61A1 gene SEC61A1 Expert Review Green;KidGen_Tubulointerstitial v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056 Abnormality of the kidney;HP:0000077 27392076 False 3 100;0;0 8.102 True ENSG00000058262 ENSG00000058262 HGNC:18276 SEC63 gene SEC63 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 2, MIM#617004 Abnormality of the kidney;HP:0000077 15133510 False 3 50;0;50 8.102 True ENSG00000025796 ENSG00000025796 HGNC:21082 SGPL1 gene SGPL1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal RENI syndrome (MIM#617575) Abnormality of the kidney;HP:0000077 28165343;28165339 False 3 100;0;0 8.102 True ENSG00000166224 ENSG00000166224 HGNC:10817 SHROOM4 gene SHROOM4 Expert Review Green;Literature;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719 Abnormality of the kidney;HP:0000077 36379543 False 3 50;50;0 8.102 True ENSG00000158352 ENSG00000158352 HGNC:29215 SLC12A1 gene SLC12A1 Expert Review Green;Expert list;Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, OMIM #601678 Abnormality of the kidney;HP:0000077 8640224, 9355073, 28095294 False 3 100;0;0 8.102 False ENSG00000074803 ENSG00000074803 HGNC:10910 SLC12A3 gene SLC12A3 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome, MIM# 263800 Abnormality of the kidney;HP:0000077 8528245;11102542 False 3 100;0;0 8.102 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC20A1 gene SLC20A1 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related Abnormality of the kidney;HP:0000077 32850778;27013921 False 3 100;0;0 8.102 True ENSG00000144136 ENSG00000144136 HGNC:10946 SLC22A12 gene SLC22A12 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypouricemia, renal, MIM# 220150, MONDO:0020728 Abnormality of the kidney;HP:0000077 34756726;34412930;26821810;34829836;14655203 False 3 100;0;0 8.102 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC2A2 gene SLC2A2 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome, MIM# 227810 Abnormality of the kidney;HP:0000077 22145468;30950137 False 3 100;0;0 8.102 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC2A9 gene SLC2A9 Expert Review Green;KidGen_Tubulopathies v38.1.0;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypouricaemia, renal, 2, MIM# 612076 Abnormality of the kidney;HP:0000077 19926891;25966807;21256783;19026395;21810765 False 3 100;0;0 8.102 False ENSG00000109667 ENSG00000109667 HGNC:13446 SLC34A1 gene SLC34A1 Expert Review Green;KidGen_CalcPhos v38.1.0;Expert Review Green;Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286;Hypercalcaemia, infantile, 2 MIM#616963 Abnormality of the kidney;HP:0000077 33099630;32216560;31188746;30943683;26047794;33516786;30778725;12324554;32866123 False 3 100;0;0 8.102 False ENSG00000131183 ENSG00000131183 HGNC:11019 SLC34A3 gene SLC34A3 Expert Review Green;KidGen_CalcPhos v38.1.0;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphataemic rickets with hypercalciuria, (MIM#241530) Abnormality of the kidney;HP:0000077 32524022 False 3 100;0;0 8.102 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC3A1 gene SLC3A1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cystinuria, MIM# 220100 Abnormality of the kidney;HP:0000077 25964309 False 3 100;0;0 8.102 False ENSG00000138079 ENSG00000138079 HGNC:11025 SLC4A1 gene SLC4A1 Expert Review Green;KidGen_Tubulopathies v38.1.0;Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590;MONDO:0012700;MONDO:0008368;Distal renal tubular acidosis 1, MIM# 179800 Abnormality of the kidney;HP:0000077 10926824;9312167;9854053;9600966 False 3 100;0;0 8.102 False ENSG00000004939 ENSG00000004939 HGNC:11027 SLC4A4 gene SLC4A4 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hemiplegic migraine;Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278 Abnormality of the kidney;HP:0000077 29914390;10545938;11274232;35260236;33439394 False 3 100;0;0 8.102 False ENSG00000080493 ENSG00000080493 HGNC:11030 SLC5A2 gene SLC5A2 Expert Review Green;Expert list;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Renal glucosuria, MIM# 233100" Abnormality of the kidney;HP:0000077 21165652;12436245;26376857 False 3 100;0;0 8.102 False ENSG00000140675 ENSG00000140675 HGNC:11037 SLC6A19 gene SLC6A19 Expert Review Green;Expert list;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperglycinuria, MIM# 138500;Hartnup disorder, MIM# 234500;Iminoglycinuria, MIM# 242600 Abnormality of the kidney;HP:0000077 15286788 False 3 100;0;0 8.102 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC7A7 gene SLC7A7 Expert Review Green;KidGen_MetabolicRenal v38.1.0;Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, MIM# 222700 Abnormality of the kidney;HP:0000077 10080182;18716612 False 3 100;0;0 8.102 False ENSG00000155465 ENSG00000155465 HGNC:11065 SLC7A9 gene SLC7A9 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cystinuria, MIM# 220100 Abnormality of the kidney;HP:0000077 10471498 False 3 100;0;0 8.102 False ENSG00000021488 ENSG00000021488 HGNC:11067 SMARCAL1 gene SMARCAL1 Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000138375 ENSG00000138375 HGNC:11102 SON gene SON Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ZTTK syndrome, MIM# 617140 Abnormality of the kidney;HP:0000077 27545680;27545676;31005274 False 3 100;0;0 8.102 True ENSG00000159140 ENSG00000159140 HGNC:11183 STRA6 gene STRA6 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated, with coloboma 8, MIM#601186 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000137868 ENSG00000137868 HGNC:30650 STRADA gene STRADA Expert Review Green;Literature;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy;OMIM #611087 Abnormality of the kidney;HP:0000077 30311510, 28688840, 27170158, 17522105 False 3 100;0;0 8.102 False ENSG00000266173 ENSG00000266173 HGNC:30172 STX16 gene STX16 Expert Review Green;Expert list;Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudohypoparathyroidism, type IB, MIM#603233 Abnormality of the kidney;HP:0000077 27338644;15579741;14561710;24438374 False 3 100;0;0 8.102 False ENSG00000124222 ENSG00000124222 HGNC:11431 TBC1D1 gene TBC1D1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT Abnormality of the kidney;HP:0000077 26572137 False 3 100;0;0 8.102 True ENSG00000065882 ENSG00000065882 HGNC:11578 TBC1D8B gene TBC1D8B Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Nephrotic syndrome, type 20, MIM# 301028 Abnormality of the kidney;HP:0000077 30661770 False 3 100;0;0 8.102 True ENSG00000133138 ENSG00000133138 HGNC:24715 TBCE gene TBCE Expert Review Green;Literature;Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410 Abnormality of the kidney;HP:0000077 27666369 False 3 100;0;0 8.102 False ENSG00000116957 ENSG00000116957 HGNC:11582 TBX18 gene TBX18 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract 2, MIM# 143400 Abnormality of the kidney;HP:0000077 26235987 False 3 100;0;0 8.102 True ENSG00000112837 ENSG00000112837 HGNC:11595 TBX6 gene TBX6 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Mayer-Rokitansky-K ster-Hauser syndrome, MONDO:0017771, TBX6-related;Combined skeletal-kidney dysplasia syndrome Abnormality of the kidney;HP:0000077 PMID: 36112137, 36161696 False 3 100;0;0 8.102 True ENSG00000149922 ENSG00000149922 HGNC:11605 TCTN2 gene TCTN2 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24, MIM# 616654;MONDO:0014724;Meckel syndrome 8, MIM# 613885;MONDO:0013482 Abnormality of the kidney;HP:0000077 21462283;21565611;25118024;21725307;32139166;25118024;32655147;33590725 False 3 100;0;0 8.102 True ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 18, MIM# 614815;MONDO:0013896;Mohr-Majewski syndrome;Meckel-Gruber syndrome Abnormality of the kidney;HP:0000077 22883145;32139166;25118024;22883145;34096792 False 3 100;0;0 8.102 True ENSG00000119977 ENSG00000119977 HGNC:24519 TFAP2A gene TFAP2A Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiooculofacial syndrome, MIM# 113620 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000137203 ENSG00000137203 HGNC:11742 TMEM138 gene TMEM138 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 16, MIM# 614465;MONDO:0013764 Abnormality of the kidney;HP:0000077 22282472;28102635;27434533 False 3 100;0;0 8.102 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 2, MIM# 608091;Meckel syndrome 2, MIM# 603194 Abnormality of the kidney;HP:0000077 20036350;20512146 False 3 100;0;0 8.102 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, MIM# 614970;MONDO:0013994;Meckel syndrome 11, MIM# 615397;MONDO:0014164 Abnormality of the kidney;HP:0000077 23012439;23349226;22179047;30617574;27449316;31663672;25869670 False 3 100;0;0 8.102 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 14, MIM# 614424 Abnormality of the kidney;HP:0000077 22152675 False 3 100;0;0 8.102 True ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM260 gene TMEM260 Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Structural heart defects and renal anomalies syndrome, MIM# 617478 Abnormality of the kidney;HP:0000077 28318500;34612517 False 3 100;0;0 8.102 True ENSG00000070269 ENSG00000070269 HGNC:20185 TMEM67 gene TMEM67 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 11, MIM# 613550;Joubert syndrome 6, MIM# 610688;Meckel syndrome 3, MIM# 607361 Abnormality of the kidney;HP:0000077 16415887;17377820;17160906;19508969 False 3 100;0;0 8.102 True ENSG00000164953 ENSG00000164953 HGNC:28396 TNS2 gene TNS2 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome Abnormality of the kidney;HP:0000077 29773874 False 3 100;0;0 8.102 True ENSG00000111077 ENSG00000111077 HGNC:19737 TOP2B gene TOP2B Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296 Abnormality of the kidney;HP:0000077 31409799 False 3 100;0;0 8.102 True ENSG00000077097 ENSG00000077097 HGNC:11990 TP53RK gene TP53RK Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 4, MIM# 617730 Abnormality of the kidney;HP:0000077 28805828;30053862 False 3 100;0;0 8.102 True ENSG00000172315 ENSG00000172315 HGNC:16197 TPRKB gene TPRKB Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 5, OMIM #617731 Abnormality of the kidney;HP:0000077 28805828;30053862 False 3 100;0;0 8.102 True ENSG00000144034 ENSG00000144034 HGNC:24259 TRAF3IP1 gene TRAF3IP1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9, MIM# 616629;MONDO:0014712 Abnormality of the kidney;HP:0000077 26487268;18364699;21945076 False 3 100;0;0 8.102 True ENSG00000204104 ENSG00000204104 HGNC:17861 TRAP1 gene TRAP1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal CAKUT;VACTERL Abnormality of the kidney;HP:0000077 24152966 False 3 100;0;0 8.102 True ENSG00000126602 ENSG00000126602 HGNC:16264 TRIM8 gene TRIM8 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428;Intellectual disability;Seizures;nephrotic syndrome;proteinuria Abnormality of the kidney;HP:0000077 30244534;32193649 False 3 100;0;0 8.102 True ENSG00000171206 ENSG00000171206 HGNC:15579 TRPC6 gene TRPC6 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 2, MIM# 603965 Abnormality of the kidney;HP:0000077 15879175;15924139;34387384;33918778;32509715 False 3 100;0;0 8.102 True ENSG00000137672 ENSG00000137672 HGNC:12338 TRPM6 gene TRPM6 Expert Review Green;KidGen_Magnesium v38.1.0;Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia 1, intestinal (MIM#602014) Abnormality of the kidney;HP:0000077 21669885 False 3 100;0;0 8.102 False ENSG00000119121 ENSG00000119121 HGNC:17995 TRPM7 gene TRPM7 Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related Abnormality of the kidney;HP:0000077 35561741;35712613;39099563 False 3 100;0;0 8.102 True ENSG00000092439 ENSG00000092439 HGNC:17994 TSC1 gene TSC1 Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;Expert Review Green;KidGen_Cystic v38.1.0;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN2 gene TSEN2 Expert Review Green;Literature;Expert Review Green;Expert list;Expert list;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal TRACK syndrome Abnormality of the kidney;HP:0000077 PMID: 34964109 False 3 67;0;33 8.102 True ENSG00000154743 ENSG00000154743 HGNC:28422 TTC21B gene TTC21B Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, MIM# 613820;Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 Abnormality of the kidney;HP:0000077 29068549;25492405;21258341 False 3 100;0;0 8.102 True ENSG00000123607 ENSG00000123607 HGNC:25660 TTC21B gene TTC21B Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Glomerular disorder (MONDO:0019722), TTC21B-related Abnormality of the kidney;HP:0000077 35289079;26940125;28124483;31208513;34805047 False 3 33;0;67 8.102 True ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, MIM# 615985 Abnormality of the kidney;HP:0000077 14520415;19797195 False 3 100;0;0 8.102 True ENSG00000165533 ENSG00000165533 HGNC:20087 TTR gene TTR Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hereditary ATTR amyloidosis MONDO:0017132 Abnormality of the kidney;HP:0000077 20301373;38484868 False 3 100;0;0 8.102 True ENSG00000118271 ENSG00000118271 HGNC:12405 TULP3 gene TULP3 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hepatorenocardiac degenerative fibrosis, MIM# 619902 Abnormality of the kidney;HP:0000077 PMID: 35397207 False 3 100;0;0 8.102 True ENSG00000078246 ENSG00000078246 HGNC:12425 TXNDC15 gene TXNDC15 Expert Review Green;Expert Review;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 14, MIM# 619879 Abnormality of the kidney;HP:0000077 30851085;27894351 False 3 100;0;0 8.102 True ENSG00000113621 ENSG00000113621 HGNC:20652 UMOD gene UMOD Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 0;0;0 8.102 False ENSG00000169344 ENSG00000169344 HGNC:12559 UMOD gene UMOD Expert Review Green;KidGen_Tubulointerstitial v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD);Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886;Medullary cystic kidney disease 2, MIM# 603860 Abnormality of the kidney;HP:0000077 32954071;32847529;32450155 False 3 100;0;0 8.102 True ENSG00000169344 ENSG00000169344 HGNC:12559 UMOD gene UMOD Expert Review Green;Expert Review;Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000" Abnormality of the kidney;HP:0000077 12471200;12629136 False 3 67;0;33 8.102 False ENSG00000169344 ENSG00000169344 HGNC:12559 VDR gene VDR Expert Review Green;KidGen_CalcPhos v38.1.0;Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Rickets, vitamin D-resistant, type IIA, MIM# 277440 Abnormality of the kidney;HP:0000077 17970811;9005998;2849209 False 3 0;0;100 8.102 False ENSG00000111424 ENSG00000111424 HGNC:12679 VHL gene VHL Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "von Hippel-Lindau syndrome, MIM# 193300" Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000134086 ENSG00000134086 HGNC:12687 VIPAS39 gene VIPAS39 Expert Review Green;KidGen_Tubulopathies v38.1.0;Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404 Abnormality of the kidney;HP:0000077 20190753;35151346 False 3 100;0;0 8.102 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Green;KidGen_Tubulopathies v38.1.0;Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085) Abnormality of the kidney;HP:0000077 31777725;31240160;24415890;15052268 False 3 100;0;0 8.102 False ENSG00000184056 ENSG00000184056 HGNC:12712 WBP11 gene WBP11 Expert Review Green;Literature;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227;malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems" Abnormality of the kidney;HP:0000077 33276377 False 3 100;0;0 8.102 True ENSG00000084463 ENSG00000084463 HGNC:16461 WDPCP gene WDPCP Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 15, MIM# 615992;OFD;Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Abnormality of the kidney;HP:0000077 20671153;25427950;32055034;29588463;28289185 False 3 100;0;0 8.102 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 13, MIM# 614377;Senior-Loken syndrome 8, MIM# 616307 Abnormality of the kidney;HP:0000077 22019273;23559409;23683095 False 3 100;0;0 8.102 True ENSG00000157796 ENSG00000157796 HGNC:18340 WDR35 gene WDR35 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091;MONDO:0013569;Cranioectodermal dysplasia 2, MIM# 613610 Abnormality of the kidney;HP:0000077 21473986 False 3 100;0;0 8.102 True ENSG00000118965 ENSG00000118965 HGNC:29250 WDR44 gene WDR44 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliopathy, MONDO:0005308, WDR44-related Abnormality of the kidney;HP:0000077 PMID: 38191484 False 3 100;0;0 8.102 True ENSG00000131725 ENSG00000131725 HGNC:30512 WDR60 gene WDR60 Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 Abnormality of the kidney;HP:0000077 23910462;29271569;26874042 False 3 100;0;0 8.102 True ENSG00000126870 ENSG00000126870 HGNC:21862 WDR72 gene WDR72 Expert Review Green;Expert Review;Expert Review Green;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA3, MIM# 613211;Distal RTA Abnormality of the kidney;HP:0000077 30028803;30779877 False 3 100;0;0 8.102 False ENSG00000166415 ENSG00000166415 HGNC:26790 WDR73 gene WDR73 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 False ENSG00000177082 ENSG00000177082 HGNC:25928 WLS gene WLS Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Zaki syndrome, MIM#619648 Abnormality of the kidney;HP:0000077 PMID: 34587386 False 3 100;0;0 8.102 True ENSG00000116729 ENSG00000116729 HGNC:30238 WNK1 gene WNK1 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism 2C (PHA2C), MIM#614492 Abnormality of the kidney;HP:0000077 11498583;32790646 False 3 100;0;0 8.102 False ENSG00000060237 ENSG00000060237 HGNC:14540 WNK1 gene WNK1 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism 2C (PHA2C), MIM#614492 Abnormality of the kidney;HP:0000077 11498583;11498583;32790646 False 3 100;0;0 8.102 True Other ENSG00000060237 ENSG00000060237 HGNC:14540 WNK4 gene WNK4 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIB, MIM# 614491 Abnormality of the kidney;HP:0000077 22266938;31044551 False 3 100;0;0 8.102 True ENSG00000126562 ENSG00000126562 HGNC:14544 WNK4 gene WNK4 Expert Review Green;KidGen_AldoHypertension v38.1.0;Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIB, MIM# 614491 Abnormality of the kidney;HP:0000077 31044551;22266938 False 3 100;0;0 8.102 False ENSG00000126562 ENSG00000126562 HGNC:14544 WNT5A gene WNT5A Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1, MIM#180700 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000114251 ENSG00000114251 HGNC:12784 WT1 gene WT1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Denys-Drash syndrome, MIM# 194080;Frasier syndrome, MIM#136680;Wilms tumor, type 1, MIM#194070;Nephrotic syndrome, type 4, MIM#256370 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000184937 ENSG00000184937 HGNC:12796 XDH gene XDH Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Xanthinuria, type I (MIM#278300) Abnormality of the kidney;HP:0000077 32071838 False 3 100;0;0 8.102 False ENSG00000158125 ENSG00000158125 HGNC:12805 XPNPEP3 gene XPNPEP3 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1, OMIM #613159 Abnormality of the kidney;HP:0000077 20179356;32660933 False 3 50;0;50 8.102 True ENSG00000196236 ENSG00000196236 HGNC:28052 YRDC gene YRDC Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome Abnormality of the kidney;HP:0000077 31481669 False 3 100;0;0 8.102 True ENSG00000196449 ENSG00000196449 HGNC:28905 ZIC3 gene ZIC3 Expert Review Green;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females VACTERL association, X-linked, MIM#314390 Abnormality of the kidney;HP:0000077 False 3 100;0;0 8.102 True ENSG00000156925 ENSG00000156925 HGNC:12874 ZMYM2 gene ZMYM2 Expert Review Green;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522 Abnormality of the kidney;HP:0000077 32891193 False 3 100;0;0 8.102 True ENSG00000121741 ENSG00000121741 HGNC:12989