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 BMP4 gene BMP4 Expert list;Expert Review Amber CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAKUT;renal maldevelopment;congenital renal dysplasia;Congenital Anomaly of the Kidneys and Urinary Tract 30568244;24131739;23641053;19685083;18305125;18233958 False 2 50;0;50 1.175 True ENSG00000125378 ENSG00000125378 HGNC:1071 CENPF gene CENPF Expert list;Expert Review Amber CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, 243605;bilateral renal hypoplasia;Duodenal atresia;Hydronephrosis 25564561;26820108;27300082 False 2 100;0;0 1.175 False ENSG00000117724 ENSG00000117724 HGNC:1857 EXOC3L2 gene EXOC3L2 Expert Review Amber;Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Dandy-Walker malformation;renal dysplasia;bone marrow failure 30327448;28749478;27894351 False 2 100;0;0 1.175 False ENSG00000130201 ENSG00000283632 HGNC:30162 FGF20 gene FGF20 Expert list;Expert Review Amber CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Renal hypodysplasia/aplasia 2, 615721 22698282;23112089 False 2 0;100;0 1.175 False ENSG00000078579 ENSG00000078579 HGNC:3677 HS2ST1 gene HS2ST1 Expert Review Amber;Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;dysmorphic features;congenital anomalies 33159882 False 2 0;100;0 1.175 False ENSG00000153936 ENSG00000153936 HGNC:5193 SALL4 gene SALL4 Expert Review Amber;Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Duane-radial ray syndrome, 607323 PMID: 20301547 False 2 0;0;0 1.175 False ENSG00000101115 ENSG00000101115 HGNC:15924 SLIT2 gene SLIT2 Expert list;Expert Review Amber CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders 26026792 False 2 50;0;50 1.175 True ENSG00000145147 ENSG00000145147 HGNC:11086 WNT5A gene WNT5A Expert list;Expert Review Amber CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1, MIM#180700 27002738;31032853 False 2 100;0;0 1.175 False ENSG00000114251 ENSG00000114251 HGNC:12784