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 Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 3 0;0;0 0.4 False ENSG00000159640 ENSG00000159640 HGNC:2707 AGT gene AGT Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 3 0;0;0 0.4 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 3 0;0;0 0.4 False ENSG00000144891 ENSG00000144891 HGNC:336 ANOS1 gene ANOS1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000011201 ENSG00000011201 HGNC:6211 BICC1 gene BICC1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000122870 ENSG00000122870 HGNC:19351 BMP4 gene BMP4 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000125378 ENSG00000125378 HGNC:1071 CENPF gene CENPF Expert list;Expert Review Green Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, MIM#243605 False 3 0;0;0 0.4 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP55 gene CEP55 Expert Review;Expert Review Green Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500 28295209;28264986;30622327 False 3 0;0;0 0.4 False ENSG00000138180 ENSG00000138180 HGNC:1161 CHD1L gene CHD1L Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000131778 ENSG00000131778 HGNC:1916 CHD7 gene CHD7 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000171316 ENSG00000171316 HGNC:20626 COQ7 gene COQ7 Expert list;Expert Review Green Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 8, MIM#616733 28409910;31240163;26084283 False 3 0;0;0 0.4 False ENSG00000167186 ENSG00000167186 HGNC:2244 CTU2 gene CTU2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000174177 ENSG00000174177 HGNC:28005 DHCR7 gene DHCR7 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000172893 ENSG00000172893 HGNC:2860 DSTYK gene DSTYK Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000133059 ENSG00000133059 HGNC:29043 EXOC3L2 gene EXOC3L2 Expert Review Green;Literature Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal bone marrow failure;Dandy-Walker malformation;renal dysplasia 27894351;30327448;28749478 False 3 0;0;0 0.4 False ENSG00000130201 ENSG00000283632 HGNC:30162 EYA1 gene EYA1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000104313 ENSG00000104313 HGNC:3519 FAM58A gene FAM58A Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000147382 ENSG00000262919 HGNC:28434 FGF10 gene FGF10 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGF8 gene FGF8 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR2 gene FGFR2 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert list;Expert Review Green Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome, MIM#149730 False 3 0;0;0 0.4 False ENSG00000068078 ENSG00000068078 HGNC:3690 FOXC2 gene FOXC2 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000176692 ENSG00000176692 HGNC:3801 FRAS1 gene FRAS1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000150893 ENSG00000150893 HGNC:25396 GATA3 gene GATA3 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000107485 ENSG00000107485 HGNC:4172 GLI3 gene GLI3 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000106571 ENSG00000106571 HGNC:4319 GPC3 gene GPC3 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000147257 ENSG00000147257 HGNC:4451 GREB1L gene GREB1L Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000141449 ENSG00000141449 HGNC:31042 GRIP1 gene GRIP1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000155974 ENSG00000155974 HGNC:18708 HAAO gene HAAO Expert list;Expert Review Green Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_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 0.4 False ENSG00000162882 ENSG00000162882 HGNC:4796 HNF1B gene HNF1B Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000108753 ENSG00000275410 HGNC:11630 HOXA13 gene HOXA13 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000106031 ENSG00000106031 HGNC:5102 HPSE2 gene HPSE2 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000172987 ENSG00000172987 HGNC:18374 ITGA8 gene ITGA8 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000077943 ENSG00000077943 HGNC:6144 JAG1 gene JAG1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000101384 ENSG00000101384 HGNC:6188 KDM6A gene KDM6A Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000147050 ENSG00000147050 HGNC:12637 KMT2D gene KMT2D Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000167548 ENSG00000167548 HGNC:7133 KYNU gene KYNU Expert list;Expert Review Green Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_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 0.4 False ENSG00000115919 ENSG00000115919 HGNC:6469 LIFR gene LIFR Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 28334964 False 3 0;0;0 0.4 False ENSG00000113594 ENSG00000113594 HGNC:6597 LRIG2 gene LRIG2 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000198799 ENSG00000198799 HGNC:20889 LRP4 gene LRP4 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000134569 ENSG00000134569 HGNC:6696 MYOCD gene MYOCD Expert Review Green;Literature Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megabladder;cardiomyopathy;congenital heart disease 31513549 False 3 0;0;0 0.4 False ENSG00000141052 ENSG00000141052 HGNC:16067 NIPBL gene NIPBL Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000164190 ENSG00000164190 HGNC:28862 NOTCH2 gene NOTCH2 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000134250 ENSG00000134250 HGNC:7882 PAX2 gene PAX2 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000075891 ENSG00000075891 HGNC:8616 PBX1 gene PBX1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000185630 ENSG00000185630 HGNC:8632 REN gene REN Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 3 0;0;0 0.4 False ENSG00000143839 ENSG00000143839 HGNC:9958 RET gene RET Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000165731 ENSG00000165731 HGNC:9967 ROBO2 gene ROBO2 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000185008 ENSG00000185008 HGNC:10250 ROR2 gene ROR2 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000169071 ENSG00000169071 HGNC:10257 SALL1 gene SALL1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000101115 ENSG00000101115 HGNC:15924 SIX1 gene SIX1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000126778 ENSG00000126778 HGNC:10887 SIX2 gene SIX2 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000170577 ENSG00000170577 HGNC:10888 SIX5 gene SIX5 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000177045 ENSG00000177045 HGNC:10891 SLIT2 gene SLIT2 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000145147 ENSG00000145147 HGNC:11086 SOX17 gene SOX17 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000164736 ENSG00000164736 HGNC:18122 SRGAP1 gene SRGAP1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000196935 ENSG00000196935 HGNC:17382 STRA6 gene STRA6 Expert list;Expert Review Green Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated, with coloboma 8, MIM#601186 False 3 0;0;0 0.4 False ENSG00000137868 ENSG00000137868 HGNC:30650 TBC1D1 gene TBC1D1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000065882 ENSG00000065882 HGNC:11578 TBX18 gene TBX18 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000112837 ENSG00000112837 HGNC:11595 TFAP2A gene TFAP2A Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000137203 ENSG00000137203 HGNC:11742 TNXB gene TNXB Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000168477 ENSG00000168477 HGNC:11976 TRAP1 gene TRAP1 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000126602 ENSG00000126602 HGNC:16264 WNT4 gene WNT4 Expert Review Green;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000162552 ENSG00000162552 HGNC:12783 WNT5A gene WNT5A Expert list;Expert Review Green Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1, MIM#180700 False 3 0;0;0 0.4 False ENSG00000114251 ENSG00000114251 HGNC:12784 ZIC3 gene ZIC3 Expert list;Expert Review Green Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_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 0.4 False ENSG00000156925 ENSG00000156925 HGNC:12874