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 APOL1 gene APOL1 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551 24206458;20635188;20647424 False 1 0;0;0 0.3 False ENSG00000100342 ENSG00000100342 HGNC:618 ARHGAP24 gene ARHGAP24 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted FSGS 21911940 False 1 0;0;0 0.3 False ENSG00000138639 ENSG00000138639 HGNC:25361 ATXN10 gene ATXN10 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 21565611 False 1 0;0;0 0.3 False ENSG00000130638 ENSG00000130638 HGNC:10549 B9D1 gene B9D1 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM #614209;Joubert syndrome 27, OMIM #617120 False 1 0;0;0 0.3 False ENSG00000108641 ENSG00000108641 HGNC:24123 BICC1 gene BICC1 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Renal dysplasia, cystic, susceptibility to};OMIM #601331 21922595 False 1 0;0;0 0.3 False ENSG00000122870 ENSG00000122870 HGNC:19351 BMP7 gene BMP7 Expert list;Expert Review Red Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital abnormalities of the kidneys and urinary tract 24429398 False 1 0;0;0 0.3 False ENSG00000101144 ENSG00000101144 HGNC:1074 C2CD3 gene C2CD3 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV, MIM# 615948 False 1 0;0;0 0.3 False ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome VI, MIM# 277170;Joubert syndrome 17, MIM#614615 False 1 0;0;0 0.3 False ENSG00000197603 ENSG00000197603 HGNC:25801 CBWD1 gene CBWD1 Expert Review Red;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal CAKUT 31862704 False 1 0;0;0 0.3 False ENSG00000172785 ENSG00000172785 HGNC:17134 CCDC28B gene CCDC28B Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Other {Bardet-Biedl syndrome 1, modifier of}, MIM#209900 False 1 0;0;0 0.3 False ENSG00000160050 ENSG00000160050 HGNC:28163 CDC5L gene CDC5L Expert list;Expert Review Red Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital abnormalities of the kidneys and urinary tract 24429398 False 1 0;0;0 0.3 False ENSG00000096401 ENSG00000096401 HGNC:1743 CDX2 gene CDX2 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 1 0;0;0 0.3 False ENSG00000165556 ENSG00000165556 HGNC:1806 COL4A2 gene COL4A2 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease 2, MIM#614483 False 1 0;0;0 0.3 False ENSG00000134871 ENSG00000134871 HGNC:2203 COQ8A gene COQ8A Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown Coenzyme Q10 deficiency, primary, 4, MIM#612016 False 1 0;0;0 0.3 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ9 gene COQ9 Expert Review Red;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5;OMIM #614654 11562630 False 1 0;0;0 0.3 False ENSG00000088682 ENSG00000088682 HGNC:25302 DACT1 gene DACT1 Expert list;Expert Review Red Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome 2, MIM#617466 28054444 False 1 0;0;0 0.3 False ENSG00000165617 ENSG00000165617 HGNC:17748 EHHADH gene EHHADH Expert Review Red;KidGen_Tubulopathies v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted OMIM#615605;Fanconi renotubular syndrome 3 24401050 False 1 0;0;0 0.3 False ENSG00000113790 ENSG00000113790 HGNC:3247 EVC gene EVC Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM#225500 False 1 0;0;0 0.3 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ellis van Creveld syndrome False 1 0;0;0 0.3 False ENSG00000173040 ENSG00000173040 HGNC:19747 EZH2 gene EZH2 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 1 0;0;0 0.3 False ENSG00000106462 ENSG00000106462 HGNC:3527 FGF10 gene FGF10 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted OMIM #149730;LADD syndrome False 1 0;0;0 0.3 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGF8 gene FGF8 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted OMIM #612702;Hypogonadotropic hypogonadism 6 with or without anosmia False 1 0;0;0 0.3 False ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 1 0;0;0 0.3 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 1 0;0;0 0.3 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert list;Expert Review Red Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome, MIM#149730 False 1 0;0;0 0.3 False ENSG00000068078 ENSG00000068078 HGNC:3690 FOXC1 gene FOXC1 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown Axenfeld-Rieger syndrome, type 3, MIM#602482 False 1 0;0;0 0.3 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted OMIM #153400;Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 15523639 False 1 0;0;0 0.3 False ENSG00000176692 ENSG00000176692 HGNC:3801 HOXA4 gene HOXA4 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 1 0;0;0 0.3 False ENSG00000197576 ENSG00000197576 HGNC:5105 HOXB6 gene HOXB6 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 1 0;0;0 0.3 False ENSG00000108511 ENSG00000108511 HGNC:5117 ICK gene ICK Expert list;Expert Review Red Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, MIM#612651 19185282;27069622 False 1 0;0;0 0.3 False ENSG00000112144 ENSG00000112144 HGNC:21219 IFT57 gene IFT57 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown Orofaciodigital syndrome XVIII, MIM#617927 False 1 0;0;0 0.3 False ENSG00000114446 ENSG00000114446 HGNC:17367 IFT81 gene IFT81 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly;OMIM #617895 26275418 False 1 0;0;0 0.3 False ENSG00000122970 ENSG00000122970 HGNC:14313 ITGB4 gene ITGB4 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730 10873890 False 1 0;0;0 0.3 False ENSG00000132470 ENSG00000132470 HGNC:6158 KANK1 gene KANK1 Expert list;Expert Review Red Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 25961457 False 1 0;0;0 0.3 False ENSG00000107104 ENSG00000107104 HGNC:19309 KANK4 gene KANK4 Expert list;Expert Review Red Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal 25961457 False 1 0;0;0 0.3 False ENSG00000132854 ENSG00000132854 HGNC:27263 LMNA gene LMNA Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted FSGS;Familial partial lipodystrophy 24080738 False 1 0;0;0 0.3 False ENSG00000160789 ENSG00000160789 HGNC:6636 NUP160 gene NUP160 Expert Review Red;Literature Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 19, MIM#618178 30179222 False 1 0;0;0 0.3 False ENSG00000030066 ENSG00000030066 HGNC:18017 NUP205 gene NUP205 Expert list;Expert Review Red Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 13, MIM#616893 26878725 False 1 0;0;0 0.3 False ENSG00000155561 ENSG00000155561 HGNC:18658 NUP37 gene NUP37 Expert list;Expert Review Red Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 30179222 False 1 0;0;0 0.3 False ENSG00000075188 ENSG00000075188 HGNC:29929 PDE6D gene PDE6D Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22, OMIM #615665 24166846 False 1 0;0;0 0.3 False ENSG00000156973 ENSG00000156973 HGNC:8788 POC1B gene POC1B Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20, MIM#615973 False 1 0;0;0 0.3 False ENSG00000139323 ENSG00000139323 HGNC:30836 SCLT1 gene SCLT1 Expert list;Expert Review Red Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome;Orofaciodigital syndrome type IX 24285566;28486600;30425282;30237576;28005958 False 1 0;0;0 0.3 False ENSG00000151466 ENSG00000151466 HGNC:26406 SEC63 gene SEC63 Expert list;Expert Review Red Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 2, MIM#617004 15133510 False 1 0;0;0 0.3 False ENSG00000025796 ENSG00000025796 HGNC:21082 SEMA3A gene SEMA3A Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 1 0;0;0 0.3 False ENSG00000075213 ENSG00000075213 HGNC:10723 SIX2 gene SIX2 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 24429398 False 1 0;0;0 0.3 False ENSG00000170577 ENSG00000170577 HGNC:10888 SLC41A1 gene SLC41A1 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis;no OMIM number 23661805 False 1 0;0;0 0.3 False ENSG00000133065 ENSG00000133065 HGNC:19429 SOX17 gene SOX17 Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted OMIM #613674;Vesicoureteral reflux 3 20960469 False 1 0;0;0 0.3 False ENSG00000164736 ENSG00000164736 HGNC:18122 TNXB gene TNXB Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vesicoureteral reflux 8, MIM# 615963 23620400 False 1 0;0;0 0.3 False ENSG00000168477 ENSG00000168477 HGNC:11976 TRIM32 gene TRIM32 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, MIM# 615988 16606853 False 1 0;0;0 0.3 False ENSG00000119401 ENSG00000119401 HGNC:16380 UPK3A gene UPK3A Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders Unknown False 1 0;0;0 0.3 False ENSG00000100373 ENSG00000100373 HGNC:12580 VTN gene VTN Expert Review Red;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atypical haemolytic uraemic syndrome 30377230 False 1 0;0;0 0.3 False ENSG00000109072 ENSG00000109072 HGNC:12724 WDR34 gene WDR34 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633 False 1 0;0;0 0.3 False ENSG00000119333 ENSG00000119333 HGNC:28296 XPNPEP3 gene XPNPEP3 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1, OMIM #613159 20179356 False 1 0;0;0 0.3 False ENSG00000196236 ENSG00000196236 HGNC:28052 XPO5 gene XPO5 Expert list;Expert Review Red Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 26878725 False 1 0;0;0 0.3 False ENSG00000124571 ENSG00000124571 HGNC:17675 ZNF423 gene ZNF423 Expert Review Red;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 19, OMIM# 614844 22863007 False 1 0;0;0 0.3 False ENSG00000102935 ENSG00000102935 HGNC:16762