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 BNC2 gene BNC2 Expert list;Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lower urinary tract obstruction, congenital;OMIM #618612 PMID: 31656805, 31051115 False 3 100;0;0 0.119 True ENSG00000173068 ENSG00000173068 HGNC:30988 CDX2 gene CDX2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005;Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs 29177441;34671974 False 3 50;50;0 0.119 True ENSG00000165556 ENSG00000165556 HGNC:1806 CHRNA3 gene CHRNA3 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800 31708116 False 3 100;0;0 0.119 True ENSG00000080644 ENSG00000080644 HGNC:1957 GATA3 gene GATA3 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 10935639;11389161;21120445;26316437;25771973;27387476;30396722 False 3 100;0;0 0.119 True ENSG00000107485 ENSG00000107485 HGNC:4172 GFRA1 gene GFRA1 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 4, MIM# 619887 33020172;34737117 False 3 100;0;0 0.119 True ENSG00000151892 ENSG00000151892 HGNC:4243 GREB1L gene GREB1L Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia/aplasia 3, OMIM# 617805 29100091 False 3 100;0;0 0.119 True ENSG00000141449 ENSG00000141449 HGNC:31042 HNF1B gene HNF1B Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.119 False ENSG00000108753 ENSG00000275410 HGNC:11630 HPSE2 gene HPSE2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 1 MIM#236730 25145936;23313374;33558177 False 3 100;0;0 0.119 True ENSG00000172987 ENSG00000172987 HGNC:18374 ITGA8 gene ITGA8 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 1, MIM# 191830 24439109 False 3 100;0;0 0.119 True ENSG00000077943 ENSG00000077943 HGNC:6144 LIFR gene LIFR Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT MONDO:0019719, LIFR-related 28334964;38025229 False 3 50;50;0 0.119 True ENSG00000113594 ENSG00000113594 HGNC:6597 LRIG2 gene LRIG2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.119 False ENSG00000198799 ENSG00000198799 HGNC:20889 NPHP3 gene NPHP3 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 False 3 50;0;50 0.119 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPNT gene NPNT Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal agenesis, MONDO:0018470, NPNT-related PMID: 35246978;34049960;17537792 False 3 100;0;0 0.119 True ENSG00000168743 ENSG00000168743 HGNC:27405 PAX2 gene PAX2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.119 False ENSG00000075891 ENSG00000075891 HGNC:8616 RET gene RET Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders Unknown False 3 0;0;0 0.119 False ENSG00000165731 ENSG00000165731 HGNC:9967 ROBO2 gene ROBO2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.119 False ENSG00000185008 ENSG00000185008 HGNC:10250 SLC20A1 gene SLC20A1 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related 32850778;27013921 False 3 100;0;0 0.119 True ENSG00000144136 ENSG00000144136 HGNC:10946 TBC1D1 gene TBC1D1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 26572137 False 3 100;0;0 0.119 True ENSG00000065882 ENSG00000065882 HGNC:11578 TBX18 gene TBX18 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract 2, MIM# 143400 26235987 False 3 100;0;0 0.119 True ENSG00000112837 ENSG00000112837 HGNC:11595 TRAP1 gene TRAP1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal CAKUT;VACTERL 24152966 False 3 100;0;0 0.119 True ENSG00000126602 ENSG00000126602 HGNC:16264 BCORL1 gene BCORL1 Expert Review;Expert Review Amber Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related False 2 0;100;0 0.119 True ENSG00000085185 ENSG00000085185 HGNC:25657 FGF20 gene FGF20 Expert list;Expert Review Amber Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 2, MIM#615721 22698282 False 2 0;100;0 0.119 True ENSG00000078579 ENSG00000078579 HGNC:3677 FOXC1 gene FOXC1 Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of the kidney and urinary tract (CAKUT) PMID: 32475988 False 2 50;50;0 0.119 False ENSG00000054598 ENSG00000054598 HGNC:3800 PTCH1 gene PTCH1 Expert Review Amber;Other Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bladder exstrophy and epispadias complex (BEEC) False 2 0;100;0 0.119 False ENSG00000185920 ENSG00000185920 HGNC:9585 SLIT2 gene SLIT2 Expert Review Amber;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 26026792;15130495 False 2 0;100;0 0.119 True ENSG00000145147 ENSG00000145147 HGNC:11086 SOX11 gene SOX11 Expert list;Expert Review Amber Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital abnormalities of the kidneys and urinary tract 29459093;24886874 False 2 0;100;0 0.119 True ENSG00000176887 ENSG00000176887 HGNC:11191 SRGAP1 gene SRGAP1 Expert Review Amber;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 26026792 False 2 0;100;0 0.119 True ENSG00000196935 ENSG00000196935 HGNC:17382 WNT9B gene WNT9B Expert Review Amber;Literature;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal agenesis/hypoplasia/dysplasia, no OMIM # PMID: 34145744 False 2 0;100;0 0.119 True ENSG00000158955 ENSG00000158955 HGNC:12779 BICC1 gene BICC1 Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Renal dysplasia, cystic, susceptibility to};OMIM #601331 21922595 False 1 0;0;100 0.119 True ENSG00000122870 ENSG00000122870 HGNC:19351 BMP7 gene BMP7 Expert list;Expert Review Red Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic 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 0.119 True ENSG00000101144 ENSG00000101144 HGNC:1074 CBWD1 gene CBWD1 Expert Review Red;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal CAKUT 31862704 False 1 0;0;100 0.119 True ENSG00000172785 ENSG00000172785 HGNC:17134 CDC5L gene CDC5L Expert list;Expert Review Red Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic 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 0.119 True ENSG00000096401 ENSG00000096401 HGNC:1743 CHD1L gene CHD1L Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 22146311;24429398 False 1 50;50;0 0.119 True ENSG00000131778 ENSG00000131778 HGNC:1916 DSTYK gene DSTYK Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic 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 0.119 True ENSG00000133059 ENSG00000133059 HGNC:29043 FGF8 gene FGF8 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic 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 0.119 True ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders Unknown False 1 100;0;0 0.119 True ENSG00000077782 ENSG00000077782 HGNC:3688 HOXA4 gene HOXA4 Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders Unknown False 1 0;0;100 0.119 True ENSG00000197576 ENSG00000197576 HGNC:5105 HOXB6 gene HOXB6 Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders Unknown False 1 0;0;100 0.119 True ENSG00000108511 ENSG00000108511 HGNC:5117 SIX2 gene SIX2 Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 24429398 False 1 0;0;100 0.119 True ENSG00000170577 ENSG00000170577 HGNC:10888 SOX17 gene SOX17 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vesicoureteral reflux 3;OMIM #613674 20960469 False 1 50;0;50 0.119 True ENSG00000164736 ENSG00000164736 HGNC:18122 TBC1D31 gene TBC1D31 Expert Review Red;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic 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 0.119 True ENSG00000156787 ENSG00000156787 HGNC:30888 TNXB gene TNXB Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vesicoureteral reflux 8, MIM# 615963 23620400 False 1 0;0;100 0.119 True ENSG00000168477 ENSG00000168477 HGNC:11976 UMOD gene UMOD Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders Unknown False 1 67;0;33 0.119 True ENSG00000169344 ENSG00000169344 HGNC:12559 UPK3A gene UPK3A Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders Unknown False 1 0;0;100 0.119 True ENSG00000100373 ENSG00000100373 HGNC:12580 WNT4 gene WNT4 Expert Review Amber;Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal SERKAL syndrome;OMIM #611812 18179883 False 1 0;50;50 0.119 True ENSG00000162552 ENSG00000162552 HGNC:12783