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;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 3 0;0;0 0.3 False ENSG00000159640 ENSG00000159640 HGNC:2707 ACTG2 gene ACTG2 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Visceral myopathy, MIM#155310 False 3 0;0;0 0.3 False ENSG00000163017 ENSG00000163017 HGNC:145 ACTN4 gene ACTN4 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000130402 ENSG00000130402 HGNC:166 ADAMTS9 gene ADAMTS9 Expert Review Green;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-Related Ciliopathy PMID:30609407 False 3 0;0;0 0.3 False ENSG00000163638 ENSG00000163638 HGNC:13202 AGT gene AGT Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 3 0;0;0 0.3 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 3 0;0;0 0.3 False ENSG00000144891 ENSG00000144891 HGNC:336 AGXT gene AGXT Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1, MIM#259900 10453743;PubMed: 1703535;19479957 False 3 0;0;0 0.3 False ENSG00000172482 ENSG00000172482 HGNC:341 AHI1 gene AHI1 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3, MIM#608629 29146704;PubMed: 15322546;16453322;15467982 False 3 0;0;0 0.3 False ENSG00000135541 ENSG00000135541 HGNC:21575 ALMS1 gene ALMS1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000116127 ENSG00000116127 HGNC:428 AMN gene AMN Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Norwegian type, MIM#261100 15024727 False 3 0;0;0 0.3 False ENSG00000166126 ENSG00000166126 HGNC:14604 ANKS6 gene ANKS6 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000165138 ENSG00000165138 HGNC:26724 ANOS1 gene ANOS1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000011201 ENSG00000011201 HGNC:6211 AP2S1 gene AP2S1 Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000042753 ENSG00000042753 HGNC:565 APOA1 gene APOA1 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, 3 or more types, MIM#105200 27240838;29968409;PubMed:31482740 False 3 0;0;0 0.3 False ENSG00000118137 ENSG00000118137 HGNC:600 APOE gene APOE Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipoprotein glomerulopathy, MIM#611771 24348079;28966924;18077821 False 3 0;0;0 0.3 False ENSG00000130203 ENSG00000130203 HGNC:613 APRT gene APRT Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Adenine phosphoribosyltransferase deficiency, MIM#614723 7915931;PubMed: 3680503;2227934;1353080 False 3 0;0;0 0.3 False ENSG00000198931 ENSG00000198931 HGNC:626 AQP2 gene AQP2 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes insipidus, nephrogenic, MIM#125800 7537761;11536078 False 3 0;0;0 0.3 False ENSG00000167580 ENSG00000167580 HGNC:634 ARHGDIA gene ARHGDIA Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000141522 ENSG00000141522 HGNC:678 ARL13B gene ARL13B Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000113966 ENSG00000113966 HGNC:13210 ATP1A1 gene ATP1A1 Expert Review Green;Literature Kidneyome_SuperPanel_VCGS 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 PMID: 30388404 False 3 0;0;0 0.3 False ENSG00000163399 ENSG00000163399 HGNC:799 ATP6V0A4 gene ATP6V0A4 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, distal, autosomal recessive, MIM#602722 10973252;12414817 False 3 0;0;0 0.3 False ENSG00000105929 ENSG00000105929 HGNC:866 ATP6V1B1 gene ATP6V1B1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000116039 ENSG00000116039 HGNC:853 AVPR2 gene AVPR2 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Diabetes insipidus, nephrogenic 304800;Nephrogenic syndrome of inappropriate antidiuresis 300539 9127330;15872203 False 3 0;0;0 0.3 False ENSG00000126895 ENSG00000126895 HGNC:897 B9D2 gene B9D2 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000123810 ENSG00000123810 HGNC:28636 BBS1 gene BBS1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000122507 ENSG00000122507 HGNC:30000 BCS1L gene BCS1L Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000074582 ENSG00000074582 HGNC:1020 BMP4 gene BMP4 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 24131739;23641053;30568244;19685083 False 3 0;0;0 0.3 False ENSG00000125378 ENSG00000125378 HGNC:1071 BNC2 gene BNC2 Expert Review Green;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lower urinary tract obstruction, congenital;OMIM #618612 PMID: 31656805, 31051115 False 3 0;0;0 0.3 False ENSG00000173068 ENSG00000173068 HGNC:30988 BSND gene BSND Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, Type 4a, MIM#602522 11687798;27234911 False 3 0;0;0 0.3 False ENSG00000162399 ENSG00000162399 HGNC:16512 C3 gene C3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000125730 ENSG00000125730 HGNC:1318 CA2 gene CA2 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000104267 ENSG00000104267 HGNC:1373 CACNA1D gene CACNA1D Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1H gene CACNA1H Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000196557 ENSG00000196557 HGNC:1395 CASR gene CASR Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198 27234911;8813042 False 3 0;0;0 0.3 False ENSG00000036828 ENSG00000036828 HGNC:1514 CC2D2A gene CC2D2A Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000048342 ENSG00000048342 HGNC:29253 CD151 gene CD151 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 29138120;15265795 False 3 0;0;0 0.3 False ENSG00000177697 ENSG00000177697 HGNC:1630 CD46 gene CD46 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000117335 ENSG00000117335 HGNC:6953 CDC73 gene CDC73 Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000134371 ENSG00000134371 HGNC:16783 CENPF gene CENPF Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, MIM#243605 False 3 0;0;0 0.3 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP104 gene CEP104 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP164 gene CEP164 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000106477 ENSG00000106477 HGNC:12370 CEP55 gene CEP55 Expert Review;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500 30622327;28295209;28264986 False 3 0;0;0 0.3 False ENSG00000138180 ENSG00000138180 HGNC:1161 CEP83 gene CEP83 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000173588 ENSG00000173588 HGNC:17966 CFB gene CFB Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000243649 ENSG00000243649 HGNC:1037 CFH gene CFH Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement factor H deficiency, MIM#609814 False 3 0;0;0 0.3 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR1 gene CFHR1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR2 gene CFHR2 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal C3 glomerulopathy;IC-MPGN;Immune complex MPGN;C3G 20800271;23728178;24334459 False 3 0;0;0 0.3 False ENSG00000080910 ENSG00000080910 HGNC:4890 CFHR3 gene CFHR3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000116785 ENSG00000116785 HGNC:16980 CFHR5 gene CFHR5 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephropathy due to CFHR5 deficiency, MIM#614809 30844074;27490940;21566112;24067434;24334459;30197990;20800271 False 3 0;0;0 0.3 False ENSG00000134389 ENSG00000134389 HGNC:24668 CFI gene CFI Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000205403 ENSG00000205403 HGNC:5394 CHD1L gene CHD1L Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 22146311;24429398 False 3 0;0;0 0.3 False ENSG00000131778 ENSG00000131778 HGNC:1916 CHD7 gene CHD7 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHRNA3 gene CHRNA3 Expert Review Green;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal dysautonomia;CAKUT 31708116 False 3 0;0;0 0.3 False ENSG00000080644 ENSG00000080644 HGNC:1957 CLCN2 gene CLCN2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN5 gene CLCN5 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS 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) Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990;Dent disease, MIM#300009 False 3 0;0;0 0.3 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCNKA gene CLCNKA Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal OMIM #613090;Bartter syndrome, type 4b, digenic False 3 0;0;0 0.3 False ENSG00000186510 ENSG00000186510 HGNC:2026 CLCNKB gene CLCNKB Expert Review Green;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal OMIM #607364;Bartter syndrome, type 3 False 3 0;0;0 0.3 False ENSG00000184908 ENSG00000184908 HGNC:2027 CLDN10 gene CLDN10 Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000134873 ENSG00000134873 HGNC:2033 CLDN16 gene CLDN16 Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000164007 ENSG00000164007 HGNC:2040 CNNM2 gene CNNM2 Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000148842 ENSG00000148842 HGNC:103 COL4A1 gene COL4A1 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773 False 3 0;0;0 0.3 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A3 gene COL4A3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000188153 ENSG00000188153 HGNC:2207 COQ2 gene COQ2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ6 gene COQ6 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8B gene COQ8B Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9, MIM#615573 24270420 False 3 0;0;0 0.3 False ENSG00000123815 ENSG00000123815 HGNC:19041 CPT2 gene CPT2 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000157184 ENSG00000157184 HGNC:2330 CRB2 gene CRB2 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease, MIM#219730 25557780 False 3 0;0;0 0.3 False ENSG00000148204 ENSG00000148204 HGNC:18688 CSPP1 gene CSPP1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000104218 ENSG00000104218 HGNC:26193 CTNS gene CTNS Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTU2 gene CTU2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 27480277;26633546 False 3 0;0;0 0.3 False ENSG00000174177 ENSG00000174177 HGNC:28005 CUBN gene CUBN Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000107611 ENSG00000107611 HGNC:2548 CUL3 gene CUL3 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000036257 ENSG00000036257 HGNC:2553 CYP11B1 gene CYP11B1 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000160882 ENSG00000160882 HGNC:2591 CYP11B2 gene CYP11B2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000179142 ENSG00000179142 HGNC:2592 CYP17A1 gene CYP17A1 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000148795 ENSG00000148795 HGNC:2593 CYP21A2 gene CYP21A2 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000231852 ENSG00000231852 HGNC:2600 CYP24A1 gene CYP24A1 Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000019186 ENSG00000019186 HGNC:2602 CYP27B1 gene CYP27B1 Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000111012 ENSG00000111012 HGNC:2606 CYP2R1 gene CYP2R1 Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000186104 ENSG00000186104 HGNC:20580 DDX59 gene DDX59 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000118197 ENSG00000118197 HGNC:25360 DGKE gene DGKE Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000153933 ENSG00000153933 HGNC:2852 DHCR7 gene DHCR7 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal OMIM #270400;Smith-Lemli-Opitz syndrome 10069707;9678700;23059950;3812577 False 3 0;0;0 0.3 False ENSG00000172893 ENSG00000172893 HGNC:2860 DLC1 gene DLC1 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Neprhotic syndrome 29773874 False 3 0;0;0 0.3 False ENSG00000164741 ENSG00000164741 HGNC:2897 DMP1 gene DMP1 Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000152592 ENSG00000152592 HGNC:2932 DNAJB11 gene DNAJB11 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 29706351;29777155 False 3 0;0;0 0.3 False ENSG00000090520 ENSG00000090520 HGNC:14889 DSTYK gene DSTYK Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000133059 ENSG00000133059 HGNC:29043 DYNC2H1 gene DYNC2H1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000187240 ENSG00000187240 HGNC:2962 DZIP1L gene DZIP1L Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 5, MIM#617610 28530676 False 3 0;0;0 0.3 False ENSG00000158163 ENSG00000158163 HGNC:26551 EGF gene EGF Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000138798 ENSG00000138798 HGNC:3229 EGFR gene EGFR Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000146648 ENSG00000146648 HGNC:3236 EMP2 gene EMP2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000213853 ENSG00000213853 HGNC:3334 ENPP1 gene ENPP1 Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000197594 ENSG00000197594 HGNC:3356 EXOC3L2 gene EXOC3L2 Expert Review Green;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal bone marrow failure;Dandy-Walker malformation;renal dysplasia 28749478;30327448;27894351 False 3 0;0;0 0.3 False ENSG00000130201 ENSG00000283632 HGNC:30162 EYA1 gene EYA1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000104313 ENSG00000104313 HGNC:3519 FAH gene FAH Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM111A gene FAM111A Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000166801 ENSG00000166801 HGNC:24725 FAM20A gene FAM20A Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000108950 ENSG00000108950 HGNC:23015 FAM58A gene FAM58A Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Other STAR syndrome, MIM# 300707 18297069;28225384 False 3 0;0;0 0.3 False ENSG00000147382 ENSG00000262919 HGNC:28434 FAN1 gene FAN1 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Interstitial nephritis, karyomegalic 7847351;8546134;PubMed: 22772369;16678356 False 3 0;0;0 0.3 False ENSG00000198690 ENSG00000198690 HGNC:29170 FAT1 gene FAT1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000083857 ENSG00000083857 HGNC:3595 FGA gene FGA Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, familial visceral, MIM#105200 12050338;8639778;PubMed: 8097946 False 3 0;0;0 0.3 False ENSG00000171560 ENSG00000171560 HGNC:3661 FGF23 gene FGF23 Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000118972 ENSG00000118972 HGNC:3680 FN1 gene FN1 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulopathy with fibronectin deposits 2, MIM#601894 18268355 False 3 0;0;0 0.3 False ENSG00000115414 ENSG00000115414 HGNC:3778 FRAS1 gene FRAS1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000150893 ENSG00000150893 HGNC:25396 FXYD2 gene FXYD2 Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000137731 ENSG00000137731 HGNC:4026 GALNT3 gene GALNT3 Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000115339 ENSG00000115339 HGNC:4125 GANAB gene GANAB Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000089597 ENSG00000089597 HGNC:4138 GATA3 gene GATA3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000107485 ENSG00000107485 HGNC:4172 GATM gene GATM Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000171766 ENSG00000171766 HGNC:4175 GLA gene GLA Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Fairy disease, MIM#301500 18033242 False 3 0;0;0 0.3 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLI3 gene GLI3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000106571 ENSG00000106571 HGNC:4319 GNA11 gene GNA11 Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000088256 ENSG00000088256 HGNC:4379 GPC3 gene GPC3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000147257 ENSG00000147257 HGNC:4451 GREB1L gene GREB1L Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia/aplasia 3, OMIM# 617805 29100091 False 3 0;0;0 0.3 False ENSG00000141449 ENSG00000141449 HGNC:31042 GRHPR gene GRHPR Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000137106 ENSG00000137106 HGNC:4570 GRIP1 gene GRIP1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000155974 ENSG00000155974 HGNC:18708 GSN gene GSN Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Finnish type, MIM#105200 2176164;29167514;8684801;PubMed: 8395367;6975851 False 3 0;0;0 0.3 False ENSG00000148180 ENSG00000148180 HGNC:4620 HAAO gene HAAO Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660 28792876 False 3 0;0;0 0.3 False ENSG00000162882 ENSG00000162882 HGNC:4796 HNF1B gene HNF1B Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, MIM#137920 27234911 False 3 0;0;0 0.3 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026;MODY, type I, OMIM # 125850 24285859;31875549;28458902;30005691;22802087 False 3 0;0;0 0.3 False ENSG00000101076 ENSG00000101076 HGNC:5024 HOGA1 gene HOGA1 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000241935 ENSG00000241935 HGNC:25155 HOXA13 gene HOXA13 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000106031 ENSG00000106031 HGNC:5102 HPRT1 gene HPRT1 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000165704 ENSG00000165704 HGNC:5157 HPSE2 gene HPSE2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000172987 ENSG00000172987 HGNC:18374 HSD11B2 gene HSD11B2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000176387 ENSG00000176387 HGNC:5209 HSD17B4 gene HSD17B4 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000133835 ENSG00000133835 HGNC:5213 HYLS1 gene HYLS1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000198331 ENSG00000198331 HGNC:26558 IFT122 gene IFT122 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT43 gene IFT43 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000119650 ENSG00000119650 HGNC:29669 INF2 gene INF2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000203485 ENSG00000203485 HGNC:23791 INPP5E gene INPP5E Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000148384 ENSG00000148384 HGNC:21474 INVS gene INVS Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000173226 ENSG00000173226 HGNC:28949 ITGA3 gene ITGA3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA8 gene ITGA8 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000077943 ENSG00000077943 HGNC:6144 ITSN1 gene ITSN1 Expert Review Green;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Early childhood SSNS PMID: 29773874 False 3 0;0;0 0.3 False ENSG00000205726 ENSG00000205726 HGNC:6183 JAG1 gene JAG1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000101384 ENSG00000101384 HGNC:6188 KANK2 gene KANK2 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 16, MIM#617783 25961457 False 3 0;0;0 0.3 False ENSG00000197256 ENSG00000197256 HGNC:29300 KCNA1 gene KCNA1 Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNJ1 gene KCNJ1 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ10 gene KCNJ10 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ5 gene KCNJ5 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000120457 ENSG00000120457 HGNC:6266 KDM6A gene KDM6A Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIAA0556 gene KIAA0556 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIAA0586 gene KIAA0586 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000198920 ENSG00000198920 HGNC:29110 KIF14 gene KIF14 Expert Review Green;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Meckel syndrome 12, OMIM #616258;Microcephaly 20, primary, autosomal recessive, OMIM #617914 PMID: 30388224. 24128419 False 3 0;0;0 0.3 False ENSG00000118193 ENSG00000118193 HGNC:19181 KIF7 gene KIF7 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000166813 ENSG00000166813 HGNC:30497 KL gene KL Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000133116 ENSG00000133116 HGNC:6344 KLHL3 gene KLHL3 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000146021 ENSG00000146021 HGNC:6354 KMT2D gene KMT2D Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000167548 ENSG00000167548 HGNC:7133 KYNU gene KYNU Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661 28792876 False 3 0;0;0 0.3 False ENSG00000115919 ENSG00000115919 HGNC:6469 LAGE3 gene LAGE3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000196976 ENSG00000196976 HGNC:26058 LAMB2 gene LAMB2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000172037 ENSG00000172037 HGNC:6487 LCAT gene LCAT Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Norum disease, MIM#245900 False 3 0;0;0 0.3 False ENSG00000213398 ENSG00000213398 HGNC:6522 LIFR gene LIFR Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 28334964 False 3 0;0;0 0.3 False ENSG00000113594 ENSG00000113594 HGNC:6597 LMX1B gene LMX1B Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000136944 ENSG00000136944 HGNC:6654 LRIG2 gene LRIG2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000198799 ENSG00000198799 HGNC:20889 LRP4 gene LRP4 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000134569 ENSG00000134569 HGNC:6696 LYZ gene LYZ Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, renal, MIM#105200 8464497;15745733,;PubMed: 1808634 False 3 0;0;0 0.3 False ENSG00000090382 ENSG00000090382 HGNC:6740 LZTFL1 gene LZTFL1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAGED2 gene MAGED2 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000102316 ENSG00000102316 HGNC:16353 MAGI2 gene MAGI2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 15, MIM# 617609 27932480;25108225;25271328 False 3 0;0;0 0.3 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAPKBP1 gene MAPKBP1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000137802 ENSG00000137802 HGNC:29536 MKKS gene MKKS Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000011143 ENSG00000011143 HGNC:7121 MMACHC gene MMACHC Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 False 3 0;0;0 0.3 False ENSG00000132763 ENSG00000132763 HGNC:24525 MUC1 gene MUC1 Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000185499 ENSG00000185499 HGNC:7508 MUT gene MUT Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000146085 ENSG00000146085 HGNC:7526 MYH9 gene MYH9 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYO1E gene MYO1E Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000157483 ENSG00000157483 HGNC:7599 MYOCD gene MYOCD Expert Review Green;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal cardiomyopathy;Megabladder;congenital heart disease 31513549 False 3 0;0;0 0.3 False ENSG00000141052 ENSG00000141052 HGNC:16067 NADSYN1 gene NADSYN1 Expert Review Green;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal limb;cardiac;absent kidneys;vertebral;Multiple congenital abnormalities 31883644 False 3 0;0;0 0.3 False ENSG00000172890 ENSG00000172890 HGNC:29832 NEK1 gene NEK1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000160602 ENSG00000160602 HGNC:13387 NIPBL gene NIPBL Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000164190 ENSG00000164190 HGNC:28862 NLRP3 gene NLRP3 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muckle-Wells syndrome, MIM#191900 27435956;28229991;PubMed: 11687797;31057541 False 3 0;0;0 0.3 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOTCH2 gene NOTCH2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000134250 ENSG00000134250 HGNC:7882 NPHP1 gene NPHP1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 False 3 0;0;0 0.3 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000116218 ENSG00000116218 HGNC:13394 NR3C1 gene NR3C1 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000113580 ENSG00000113580 HGNC:7978 NR3C2 gene NR3C2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000151623 ENSG00000151623 HGNC:7979 NUP107 gene NUP107 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000111581 ENSG00000111581 HGNC:29914 NUP133 gene NUP133 Expert Review Green;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 18, MIM#618177 30179222 False 3 0;0;0 0.3 False ENSG00000069248 ENSG00000069248 HGNC:18016 NUP85 gene NUP85 Expert Review Green;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 17, MIM#618176 30179222 False 3 0;0;0 0.3 False ENSG00000125450 ENSG00000125450 HGNC:8734 NUP93 gene NUP93 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 12, MIM#616892 26878725 False 3 0;0;0 0.3 False ENSG00000102900 ENSG00000102900 HGNC:28958 OCRL gene OCRL Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, MIM#309000;Dent disease 2, MIM#300555 False 3 0;0;0 0.3 False ENSG00000122126 ENSG00000122126 HGNC:8108 OFD1 gene OFD1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000046651 ENSG00000046651 HGNC:2567 OSGEP gene OSGEP Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000092094 ENSG00000092094 HGNC:18028 PAX2 gene PAX2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 7, MIM#616002 24676634 False 3 0;0;0 0.3 False ENSG00000075891 ENSG00000075891 HGNC:8616 PBX1 gene PBX1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000185630 ENSG00000185630 HGNC:8632 PCBD1 gene PCBD1 Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000166228 ENSG00000166228 HGNC:8646 PDE3A gene PDE3A Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000172572 ENSG00000172572 HGNC:8778 PDSS2 gene PDSS2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000164494 ENSG00000164494 HGNC:23041 PHEX gene PHEX Expert Review Green;Literature Kidneyome_SuperPanel_VCGS 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) OMIM #307800;Hypophosphatemic rickets, X-linked dominant PMID: 31065622 False 3 0;0;0 0.3 False ENSG00000102174 ENSG00000102174 HGNC:8918 PKD1 gene PKD1 Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000170927 ENSG00000170927 HGNC:9016 PLCE1 gene PLCE1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000138193 ENSG00000138193 HGNC:17175 PODXL gene PODXL Expert Review Green;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nephrotic syndrome PMID: 30523047, 29244787, 28117080, 24048372 False 3 0;0;0 0.3 False ENSG00000128567 ENSG00000128567 HGNC:9171 PRKCSH gene PRKCSH Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000130175 ENSG00000130175 HGNC:9411 PTH1R gene PTH1R Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000160801 ENSG00000160801 HGNC:9608 PTPRO gene PTPRO Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000151490 ENSG00000151490 HGNC:9678 REN gene REN Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 3 0;0;0 0.3 False ENSG00000143839 ENSG00000143839 HGNC:9958 RET gene RET Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000165731 ENSG00000165731 HGNC:9967 RMND1 gene RMND1 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000155906 ENSG00000155906 HGNC:21176 ROBO2 gene ROBO2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000185008 ENSG00000185008 HGNC:10250 ROR2 gene ROR2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000169071 ENSG00000169071 HGNC:10257 RPGRIP1L gene RPGRIP1L Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000103494 ENSG00000103494 HGNC:29168 RRM2B gene RRM2B Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000048392 ENSG00000048392 HGNC:17296 SALL1 gene SALL1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SALL4- related disorders 20301547 False 3 0;0;0 0.3 False ENSG00000101115 ENSG00000101115 HGNC:15924 SARS2 gene SARS2 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000104835 ENSG00000104835 HGNC:17697 SBDS gene SBDS Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000126524 ENSG00000126524 HGNC:19440 SCARB2 gene SCARB2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000138760 ENSG00000138760 HGNC:1665 SCNN1A gene SCNN1A Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000166828 ENSG00000166828 HGNC:10602 SDCCAG8 gene SDCCAG8 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000054282 ENSG00000054282 HGNC:10671 SEC61A1 gene SEC61A1 Expert Review Green;KidGen_Tubulointerstitial v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000058262 ENSG00000058262 HGNC:18276 SGPL1 gene SGPL1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000166224 ENSG00000166224 HGNC:10817 SIX1 gene SIX1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 23, MIM# 605192;Branchiootic syndrome 3, MIM#608389 False 3 0;0;0 0.3 False ENSG00000126778 ENSG00000126778 HGNC:10887 SIX5 gene SIX5 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000177045 ENSG00000177045 HGNC:10891 SLC12A1 gene SLC12A1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000074803 ENSG00000074803 HGNC:10910 SLC12A3 gene SLC12A3 Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC22A12 gene SLC22A12 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC26A1 gene SLC26A1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrolithiasis, calcium oxalate, MIM#167030 20160351;27210743 False 3 0;0;0 0.3 False ENSG00000145217 ENSG00000145217 HGNC:10993 SLC2A2 gene SLC2A2 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC2A9 gene SLC2A9 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000109667 ENSG00000109667 HGNC:13446 SLC34A1 gene SLC34A1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000131183 ENSG00000131183 HGNC:11019 SLC34A3 gene SLC34A3 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC3A1 gene SLC3A1 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000138079 ENSG00000138079 HGNC:11025 SLC4A1 gene SLC4A1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000004939 ENSG00000004939 HGNC:11027 SLC4A4 gene SLC4A4 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000080493 ENSG00000080493 HGNC:11030 SLC5A2 gene SLC5A2 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS 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 False 3 0;0;0 0.3 False ENSG00000140675 ENSG00000140675 HGNC:11037 SLC7A7 gene SLC7A7 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000155465 ENSG00000155465 HGNC:11065 SLC7A9 gene SLC7A9 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000021488 ENSG00000021488 HGNC:11067 SLC9A3R1 gene SLC9A3R1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287 18784102 False 3 0;0;0 0.3 False ENSG00000109062 ENSG00000109062 HGNC:11075 SLIT2 gene SLIT2 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000145147 ENSG00000145147 HGNC:11086 SMARCAL1 gene SMARCAL1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000138375 ENSG00000138375 HGNC:11102 STRA6 gene STRA6 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated, with coloboma 8, MIM#601186 False 3 0;0;0 0.3 False ENSG00000137868 ENSG00000137868 HGNC:30650 STRADA gene STRADA Expert Review Green;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy;OMIM #611087 PMID: 30311510, 28688840, 27170158, 17522105 False 3 0;0;0 0.3 False ENSG00000266173 ENSG00000266173 HGNC:30172 STX16 gene STX16 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000124222 ENSG00000124222 HGNC:11431 TBC1D1 gene TBC1D1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 26572137 False 3 0;0;0 0.3 False ENSG00000065882 ENSG00000065882 HGNC:11578 TBC1D8B gene TBC1D8B Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS 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 30661770 False 3 0;0;0 0.3 False ENSG00000133138 ENSG00000133138 HGNC:24715 TBX18 gene TBX18 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000112837 ENSG00000112837 HGNC:11595 TCTN1 gene TCTN1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000119977 ENSG00000119977 HGNC:24519 TFAP2A gene TFAP2A Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiooculofacial syndrome, MIM# 113620 False 3 0;0;0 0.3 False ENSG00000137203 ENSG00000137203 HGNC:11742 TMEM107 gene TMEM107 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000164953 ENSG00000164953 HGNC:28396 TNS2 gene TNS2 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 29773874 False 3 0;0;0 0.3 False ENSG00000111077 ENSG00000111077 HGNC:19737 TP53RK gene TP53RK Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000172315 ENSG00000172315 HGNC:16197 TPRKB gene TPRKB Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 5, OMIM #617731 28805828;30053862 False 3 0;0;0 0.3 False ENSG00000144034 ENSG00000144034 HGNC:24259 TRAF3IP1 gene TRAF3IP1 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000204104 ENSG00000204104 HGNC:17861 TRAP1 gene TRAP1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000126602 ENSG00000126602 HGNC:16264 TRPC6 gene TRPC6 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000137672 ENSG00000137672 HGNC:12338 TRPM6 gene TRPM6 Expert Review Green;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal, MIM#602014 21669885 False 3 0;0;0 0.3 False ENSG00000119121 ENSG00000119121 HGNC:17995 TSC1 gene TSC1 Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000103197 ENSG00000103197 HGNC:12363 TTC21B gene TTC21B Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, MIM#613820 False 3 0;0;0 0.3 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000165533 ENSG00000165533 HGNC:20087 TXNDC15 gene TXNDC15 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000113621 ENSG00000113621 HGNC:20652 UMOD gene UMOD Expert Review Green;KidGen_Cystic v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000169344 ENSG00000169344 HGNC:12559 VDR gene VDR Expert Review Green;KidGen_CalcPhos v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown Rickets, vitamin D-resistant, type IIA, MIM# 277440 False 3 0;0;0 0.3 False ENSG00000111424 ENSG00000111424 HGNC:12679 VHL gene VHL Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted von Hippel-Lindau syndrome, MIM#193300 False 3 0;0;0 0.3 False ENSG00000134086 ENSG00000134086 HGNC:12687 VIPAS39 gene VIPAS39 Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Green;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000184056 ENSG00000184056 HGNC:12712 WDPCP gene WDPCP Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR35 gene WDR35 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Green;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000126870 ENSG00000126870 HGNC:21862 WDR73 gene WDR73 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000177082 ENSG00000177082 HGNC:25928 WNK1 gene WNK1 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000060237 ENSG00000060237 HGNC:14540 WNK4 gene WNK4 Expert Review Green;KidGen_AldoHypertension v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal SERKAL syndrome;OMIM #611812 18179883 False 3 0;0;0 0.3 False ENSG00000126562 ENSG00000126562 HGNC:14544 WNT5A gene WNT5A Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1, MIM#180700 False 3 0;0;0 0.3 False ENSG00000114251 ENSG00000114251 HGNC:12784 WT1 gene WT1 Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000184937 ENSG00000184937 HGNC:12796 XDH gene XDH Expert Review Green;KidGen_MetabolicRenal v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.3 False ENSG00000158125 ENSG00000158125 HGNC:12805 ZIC3 gene ZIC3 Expert list;Expert Review Green Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females VACTERL association, X-linked, MIM#314390 False 3 0;0;0 0.3 False ENSG00000156925 ENSG00000156925 HGNC:12874