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 BICC1 gene BICC1 Expert Review Red;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Renal dysplasia, cystic, susceptibility to};OMIM #601331 21922595 False 1 0;0;100 1.95 True ENSG00000122870 ENSG00000122870 HGNC:19351 BMP7 gene BMP7 Expert Review Red;Expert list Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital abnormalities of the kidneys and urinary tract 24429398 False 1 0;50;50 1.95 True ENSG00000101144 ENSG00000101144 HGNC:1074 CBWD1 gene CBWD1 Expert Review Red;Literature Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal CAKUT 31862704 False 1 0;0;100 1.95 True ENSG00000172785 ENSG00000172785 HGNC:17134 CDC5L gene CDC5L Expert Review Red;Expert list Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital abnormalities of the kidneys and urinary tract 24429398 False 1 0;100;0 1.95 True ENSG00000096401 ENSG00000096401 HGNC:1743 CHD1L gene CHD1L Expert Review Red;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 22146311;24429398 False 1 50;50;0 1.95 True ENSG00000131778 ENSG00000131778 HGNC:1916 CHRM5 gene CHRM5 Expert Review Red;Literature Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related 37213061 False 1 0;0;100 1.95 True ENSG00000184984 ENSG00000184984 HGNC:1954 DSTYK gene DSTYK Expert Review Red;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract 1, MIM# 610805 23862974;23862974;28618409 False 1 50;0;50 1.95 True ENSG00000133059 ENSG00000133059 HGNC:29043 EZH2 gene EZH2 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders Unknown False 1 67;0;33 1.95 True ENSG00000106462 ENSG00000106462 HGNC:3527 FGF10 gene FGF10 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome;OMIM #149730 False 1 50;0;50 1.95 True ENSG00000070193 ENSG00000070193 HGNC:3666 FGF8 gene FGF8 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 6 with or without anosmia;OMIM #612702 False 1 33;33;33 1.95 True ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Red;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders Unknown False 1 100;0;0 1.95 True ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Red;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders Unknown False 1 50;0;50 1.95 True ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;Expert Review Red;Expert list Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome, MIM#149730 False 1 67;0;33 1.95 True ENSG00000068078 ENSG00000068078 HGNC:3690 FOXC2 gene FOXC2 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus;OMIM #153400 15523639 False 1 50;0;50 1.95 True ENSG00000176692 ENSG00000176692 HGNC:3801 HOXA4 gene HOXA4 Expert Review Red;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders Unknown False 1 0;0;100 1.95 True ENSG00000197576 ENSG00000197576 HGNC:5105 HOXB6 gene HOXB6 Expert Review Red;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders Unknown False 1 0;0;100 1.95 True ENSG00000108511 ENSG00000108511 HGNC:5117 SEMA3A gene SEMA3A Expert Review Red;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders Unknown False 1 50;0;50 1.95 True ENSG00000075213 ENSG00000075213 HGNC:10723 SIX1 gene SIX1 Expert Review Red;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootic syndrome 3, MIM#608389;Deafness, autosomal dominant 23, MIM# 605192 False 1 50;0;50 1.95 True ENSG00000126778 ENSG00000126778 HGNC:10887 SIX2 gene SIX2 Expert Review Red;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 24429398 False 1 0;0;100 1.95 True ENSG00000170577 ENSG00000170577 HGNC:10888 SOX17 gene SOX17 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vesicoureteral reflux 3;OMIM #613674 20960469 False 1 50;0;50 1.95 True ENSG00000164736 ENSG00000164736 HGNC:18122 TBC1D31 gene TBC1D31 Expert Review Red;Literature Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal congenital anomaly of kidney and urinary tract MONDO:0019719, TBC1D31-related 37468454 False 1 0;0;100 1.95 True ENSG00000156787 ENSG00000156787 HGNC:30888 TNXB gene TNXB Expert Review Red;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vesicoureteral reflux 8, MIM# 615963 23620400 False 1 0;0;100 1.95 True ENSG00000168477 ENSG00000168477 HGNC:11976 UMOD gene UMOD Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders Unknown False 1 67;0;33 1.95 True ENSG00000169344 ENSG00000169344 HGNC:12559 UPK3A gene UPK3A Expert Review Red;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders Unknown False 1 0;0;100 1.95 True ENSG00000100373 ENSG00000100373 HGNC:12580 WNT4 gene WNT4 Expert Review Amber;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal SERKAL syndrome;OMIM #611812 18179883 False 1 0;50;50 1.95 True ENSG00000162552 ENSG00000162552 HGNC:12783