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 ARHGAP24 gene ARHGAP24 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted FSGS, MONDO:0005363, ARHGAP24-related Abnormality of the kidney;HP:0000077 21911940 False 1 0;0;100 8.102 True ENSG00000138639 ENSG00000138639 HGNC:25361 ATP6V1C2 gene ATP6V1C2 Expert Review Red;Literature;Expert Review Red;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis Abnormality of the kidney;HP:0000077 31959358 False 1 0;0;100 8.102 False ENSG00000143882 ENSG00000143882 HGNC:18264 ATXN10 gene ATXN10 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis Abnormality of the kidney;HP:0000077 21565611 False 1 0;0;100 8.102 True ENSG00000130638 ENSG00000130638 HGNC:10549 B9D1 gene B9D1 Expert Review Amber;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM #614209;Joubert syndrome 27, OMIM #617120 Abnormality of the kidney;HP:0000077 False 1 0;50;50 8.102 True ENSG00000108641 ENSG00000108641 HGNC:24123 BICC1 gene BICC1 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Renal dysplasia, cystic, susceptibility to};OMIM #601331 Abnormality of the kidney;HP:0000077 21922595 False 1 0;0;100 8.102 True ENSG00000122870 ENSG00000122870 HGNC:19351 BMP7 gene BMP7 Expert Review Red;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital abnormalities of the kidneys and urinary tract Abnormality of the kidney;HP:0000077 24429398 False 1 0;50;50 8.102 True ENSG00000101144 ENSG00000101144 HGNC:1074 C2CD3 gene C2CD3 Expert list;Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV, MIM# 615948 Abnormality of the kidney;HP:0000077 False 1 33;33;33 8.102 True ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17, MIM#614615;Orofaciodigital syndrome VI, MIM# 277170 Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000197603 ENSG00000197603 HGNC:25801 CBWD1 gene CBWD1 Expert Review Red;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal CAKUT Abnormality of the kidney;HP:0000077 31862704 False 1 0;0;100 8.102 True ENSG00000172785 ENSG00000172785 HGNC:17134 CCDC28B gene CCDC28B Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders Other {Bardet-Biedl syndrome 1, modifier of}, MIM#209900 Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000160050 ENSG00000160050 HGNC:28163 CD151 gene CD151 Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services 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 1 0;0;100 8.102 True ENSG00000177697 ENSG00000177697 HGNC:1630 CDC5L gene CDC5L Expert Review Red;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital abnormalities of the kidneys and urinary tract Abnormality of the kidney;HP:0000077 24429398 False 1 0;100;0 8.102 True ENSG00000096401 ENSG00000096401 HGNC:1743 CEP104 gene CEP104 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, MIM# 616781;MONDO:0014770 Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000116198 ENSG00000116198 HGNC:24866 CFH gene CFH Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement factor H deficiency, MIM#609814 Abnormality of the kidney;HP:0000077 False 1 50;0;50 8.102 True ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR5 gene CFHR5 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephropathy due to CFHR5 deficiency, MIM#614809 Abnormality of the kidney;HP:0000077 30844074;30197990;24067434;21566112;20800271;27490940;24334459 False 1 50;0;50 8.102 True ENSG00000134389 ENSG00000134389 HGNC:24668 CHD1L gene CHD1L Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT Abnormality of the kidney;HP:0000077 22146311;24429398 False 1 50;50;0 8.102 True ENSG00000131778 ENSG00000131778 HGNC:1916 CHRM5 gene CHRM5 Expert Review Red;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related Abnormality of the kidney;HP:0000077 37213061 False 1 0;0;100 8.102 True ENSG00000184984 ENSG00000184984 HGNC:1954 CLCN5 gene CLCN5 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000171365 ENSG00000171365 HGNC:2023 COL4A2 gene COL4A2 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease 2, MIM#614483 Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000134871 ENSG00000134871 HGNC:2203 COQ8A gene COQ8A Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Coenzyme Q10 deficiency, primary, 4, MIM#612016 Abnormality of the kidney;HP:0000077 False 1 50;0;50 8.102 True ENSG00000163050 ENSG00000163050 HGNC:16812 CUBN gene CUBN Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000107611 ENSG00000107611 HGNC:2548 DSTYK gene DSTYK Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract 1, MIM# 610805 Abnormality of the kidney;HP:0000077 23862974;23862974;28618409 False 1 50;0;50 8.102 True ENSG00000133059 ENSG00000133059 HGNC:29043 EGF gene EGF Expert Review Red;KidGen_Magnesium v38.1.0;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 4, renal, MIM#611718 Abnormality of the kidney;HP:0000077 17671655 False 1 0;0;100 8.102 True ENSG00000138798 ENSG00000138798 HGNC:3229 EGFR gene EGFR Expert Review Red;KidGen_Magnesium v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory skin and bowel disease, neonatal, 2;OMIM # 616069 Abnormality of the kidney;HP:0000077 24691054 False 1 0;0;100 8.102 False ENSG00000146648 ENSG00000146648 HGNC:3236 EVC gene EVC Expert Review Green;Expert Review;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM#225500 Abnormality of the kidney;HP:0000077 False 1 0;50;50 8.102 True ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ellis van Creveld syndrome Abnormality of the kidney;HP:0000077 False 1 0;50;50 8.102 True ENSG00000173040 ENSG00000173040 HGNC:19747 EZH2 gene EZH2 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 67;0;33 8.102 True ENSG00000106462 ENSG00000106462 HGNC:3527 FGF10 gene FGF10 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome;OMIM #149730 Abnormality of the kidney;HP:0000077 False 1 50;0;50 8.102 True ENSG00000070193 ENSG00000070193 HGNC:3666 FGF8 gene FGF8 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 6 with or without anosmia;OMIM #612702 Abnormality of the kidney;HP:0000077 False 1 33;33;33 8.102 True ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 100;0;0 8.102 True ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 50;0;50 8.102 True ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;Expert Review Red;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome, MIM#149730 Abnormality of the kidney;HP:0000077 False 1 67;0;33 8.102 True ENSG00000068078 ENSG00000068078 HGNC:3690 FN1 gene FN1 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000115414 ENSG00000115414 HGNC:3778 FOXC1 gene FOXC1 Expert Review Red;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Axenfeld-Rieger syndrome, type 3, MIM#602482 Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus;OMIM #153400 Abnormality of the kidney;HP:0000077 15523639 False 1 50;0;50 8.102 True ENSG00000176692 ENSG00000176692 HGNC:3801 HOXA4 gene HOXA4 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000197576 ENSG00000197576 HGNC:5105 HOXB6 gene HOXB6 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000108511 ENSG00000108511 HGNC:5117 HYLS1 gene HYLS1 Expert Review Red;Expert list;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome (MIM#236680);Joubert syndrome Abnormality of the kidney;HP:0000077 15843405;18648327;19400947;19656802;32509774;26830932 False 1 0;50;50 8.102 True ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert Review Red;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Endocrine-cerebroosteodysplasia, MIM# 612651" Abnormality of the kidney;HP:0000077 19185282;27069622 False 1 50;0;50 8.102 True ENSG00000112144 ENSG00000112144 HGNC:21219 IFT57 gene IFT57 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Orofaciodigital syndrome XVIII, MIM#617927 Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000114446 ENSG00000114446 HGNC:17367 IFT81 gene IFT81 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly;OMIM #617895 Abnormality of the kidney;HP:0000077 26275418 False 1 0;0;100 8.102 True ENSG00000122970 ENSG00000122970 HGNC:14313 IL1RAP gene IL1RAP Expert Review Red;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Steroid-sensitive nephrotic syndrome Abnormality of the kidney;HP:0000077 31954058 False 1 0;0;100 8.102 True ENSG00000196083 ENSG00000196083 HGNC:5995 ITGB4 gene ITGB4 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730 Abnormality of the kidney;HP:0000077 10873890 False 1 0;0;100 8.102 True ENSG00000132470 ENSG00000132470 HGNC:6158 KANK1 gene KANK1 Expert Review Red;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome Abnormality of the kidney;HP:0000077 25961457 False 1 0;0;100 8.102 True ENSG00000107104 ENSG00000107104 HGNC:19309 KANK4 gene KANK4 Expert Review Red;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Abnormality of the kidney;HP:0000077 25961457 False 1 0;50;50 8.102 True ENSG00000132854 ENSG00000132854 HGNC:27263 KAT2B gene KAT2B Expert Review Red;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related Abnormality of the kidney;HP:0000077 39366742 False 1 0;0;100 8.102 True ENSG00000114166 ENSG00000114166 HGNC:8638 KIAA0556 gene KIAA0556 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, MIM# 616784 Abnormality of the kidney;HP:0000077 26714646;27245168 False 1 0;0;100 8.102 True ENSG00000047578 ENSG00000047578 HGNC:29068 KIAA0586 gene KIAA0586 Expert Review Red;Literature;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546;Joubert syndrome 23, MIM# 616490 Abnormality of the kidney;HP:0000077 26166481;26096313;29146704 False 1 50;0;50 8.102 True ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert Review Red;Expert list;Expert list;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib skeletal dysplasia;Orofaciodigital syndrome XV, MIM# 617127;Jeune ATD Abnormality of the kidney;HP:0000077 29138412;26643951;31816441 False 1 50;0;50 8.102 True ENSG00000198920 ENSG00000198920 HGNC:29110 KIF14 gene KIF14 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000118193 ENSG00000118193 HGNC:19181 KIF7 gene KIF7 Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Acrocallosal syndrome, MIM# 200990;Joubert syndrome 12, MIM# 200990 Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000166813 ENSG00000166813 HGNC:30497 LMNA gene LMNA Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial partial lipodystrophy;FSGS Abnormality of the kidney;HP:0000077 24080738 False 1 0;0;100 8.102 True ENSG00000160789 ENSG00000160789 HGNC:6636 LMX1B gene LMX1B Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000136944 ENSG00000136944 HGNC:6654 LRP5 gene LRP5 Expert Review Red;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Polycystic liver disease 4 with or without kidney cysts, MIM# 617875" Abnormality of the kidney;HP:0000077 25920554;24706814 False 1 0;0;100 8.102 True ENSG00000162337 ENSG00000162337 HGNC:6697 NPHS2 gene NPHS2 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000116218 ENSG00000116218 HGNC:13394 NUP205 gene NUP205 Expert Review Red;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 13, MIM#616893 Abnormality of the kidney;HP:0000077 26878725 False 1 0;0;100 8.102 True ENSG00000155561 ENSG00000155561 HGNC:18658 NUP37 gene NUP37 Expert Review Red;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome Abnormality of the kidney;HP:0000077 30179222 False 1 0;0;100 8.102 True ENSG00000075188 ENSG00000075188 HGNC:29929 OCRL gene OCRL Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000122126 ENSG00000122126 HGNC:8108 PDE6D gene PDE6D Expert Review Amber;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22, OMIM #615665 Abnormality of the kidney;HP:0000077 24166846 False 1 0;50;50 8.102 True ENSG00000156973 ENSG00000156973 HGNC:8788 POC1B gene POC1B Expert Review Red;Expert list;Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20, MIM#615973 Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000139323 ENSG00000139323 HGNC:30836 SEMA3A gene SEMA3A Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 50;0;50 8.102 True ENSG00000075213 ENSG00000075213 HGNC:10723 SIX1 gene SIX1 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootic syndrome 3, MIM#608389;Deafness, autosomal dominant 23, MIM# 605192 Abnormality of the kidney;HP:0000077 False 1 50;0;50 8.102 True ENSG00000126778 ENSG00000126778 HGNC:10887 SIX2 gene SIX2 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT Abnormality of the kidney;HP:0000077 24429398 False 1 0;0;100 8.102 True ENSG00000170577 ENSG00000170577 HGNC:10888 SLC26A1 gene SLC26A1 Expert Review Red;KidGen_MetabolicRenal v38.1.0;Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nephrolithiasis, calcium oxalate, MIM#167030 Abnormality of the kidney;HP:0000077 27125215;20160351;30383413;27210743 False 1 0;50;50 8.102 False ENSG00000145217 ENSG00000145217 HGNC:10993 SLC41A1 gene SLC41A1 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 2, MIM# 619468 Abnormality of the kidney;HP:0000077 23661805 False 1 0;0;100 8.102 True ENSG00000133065 ENSG00000133065 HGNC:19429 SLC6A20 gene SLC6A20 Expert Review Red;Expert list;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperglycinuria, MIM# 138500 Abnormality of the kidney;HP:0000077 24816252;19033659;36820062 False 1 50;0;50 8.102 True ENSG00000163817 ENSG00000163817 HGNC:30927 SLC6A6 gene SLC6A6 Expert Review Red;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary hyperoxaluria, MONDO:0002474, SLC26A6-related Abnormality of the kidney;HP:0000077 35115415;21170874;32660969 False 1 0;0;100 8.102 True ENSG00000131389 ENSG00000131389 HGNC:11052 SLC9A3R1 gene SLC9A3R1 Expert Review Red;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287 Abnormality of the kidney;HP:0000077 18784102 False 1 0;0;100 8.102 True ENSG00000109062 ENSG00000109062 HGNC:11075 SOX17 gene SOX17 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vesicoureteral reflux 3;OMIM #613674 Abnormality of the kidney;HP:0000077 20960469 False 1 50;0;50 8.102 True ENSG00000164736 ENSG00000164736 HGNC:18122 SPRY2 gene SPRY2 Expert Review Red;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{?IgA nephropathy, susceptibility to, 3} MIM#616818" Abnormality of the kidney;HP:0000077 25782674 False 1 0;0;100 8.102 True ENSG00000136158 ENSG00000136158 HGNC:11270 TBC1D31 gene TBC1D31 Expert Review Red;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal congenital anomaly of kidney and urinary tract MONDO:0019719, TBC1D31-related Abnormality of the kidney;HP:0000077 37468454 False 1 0;0;100 8.102 True ENSG00000156787 ENSG00000156787 HGNC:30888 TCTN1 gene TCTN1 Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 13, MIM# 614173 Abnormality of the kidney;HP:0000077 21725307;26477546;31302911;26489806;22693042 False 1 0;0;100 8.102 True ENSG00000204852 ENSG00000204852 HGNC:26113 TNXB gene TNXB Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vesicoureteral reflux 8, MIM# 615963 Abnormality of the kidney;HP:0000077 23620400 False 1 0;0;100 8.102 True ENSG00000168477 ENSG00000168477 HGNC:11976 TRIM32 gene TRIM32 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, MIM# 615988 Abnormality of the kidney;HP:0000077 16606853 False 1 0;0;100 8.102 True ENSG00000119401 ENSG00000119401 HGNC:16380 TRPV5 gene TRPV5 Expert Review Red;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal TRPV5-related hypercalciuria (MONDO:0009550) Abnormality of the kidney;HP:0000077 38528055;14679186 False 1 0;0;100 8.102 True ENSG00000127412 ENSG00000127412 HGNC:3145 UMOD gene UMOD Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 67;0;33 8.102 True ENSG00000169344 ENSG00000169344 HGNC:12559 UPK3A gene UPK3A Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders Unknown Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000100373 ENSG00000100373 HGNC:12580 USP33 gene USP33 Expert Review Red;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypertension MONDO:0001105 Abnormality of the kidney;HP:0000077 36928819 False 1 0;100;0 8.102 True ENSG00000077254 ENSG00000077254 HGNC:20059 VTN gene VTN Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atypical haemolytic uraemic syndrome Abnormality of the kidney;HP:0000077 30377230 False 1 0;100;0 8.102 True ENSG00000109072 ENSG00000109072 HGNC:12724 WDR34 gene WDR34 Expert Review Green;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633 Abnormality of the kidney;HP:0000077 False 1 0;0;100 8.102 True ENSG00000119333 ENSG00000119333 HGNC:28296 WNT4 gene WNT4 Expert Review Amber;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal SERKAL syndrome;OMIM #611812 Abnormality of the kidney;HP:0000077 18179883 False 1 0;50;50 8.102 True ENSG00000162552 ENSG00000162552 HGNC:12783 XPO5 gene XPO5 Expert Review Red;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome Abnormality of the kidney;HP:0000077 26878725 False 1 0;100;0 8.102 True ENSG00000124571 ENSG00000124571 HGNC:17675