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 ACTA2 gene ACTA2 Expert Review;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multi system smooth muscle dysfunction False 1 100;0;0 1.182 False ENSG00000107796 ENSG00000107796 HGNC:130 BICC1 gene BICC1 Expert Review Red;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders {Renal dysplasia, cystic, susceptibility to}, 601331 False 1 0;0;100 1.182 True ENSG00000122870 ENSG00000122870 HGNC:19351 BMP7 gene BMP7 Expert list;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 24429398;7590254 False 1 0;0;100 1.182 False ENSG00000101144 ENSG00000101144 HGNC:1074 BSND gene BSND Expert Review Red;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a, 602522;Sensorineural deafness with mild renal dysfunction, 602522 False 1 50;0;50 1.182 True ENSG00000162399 ENSG00000162399 HGNC:16512 CHD1L gene CHD1L Expert Review Red;Other CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal or urinary tract malformation (CAKUT);ORPHA93545 24429398;22146311;32164334 False 1 0;0;100 1.182 False ENSG00000131778 ENSG00000131778 HGNC:1916 COX10 gene COX10 Expert Review Red;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046;Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency False 1 0;0;100 1.182 True ENSG00000006695 ENSG00000006695 HGNC:2260 DACT1 gene DACT1 Literature;Other CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Townes-Brocks syndrome 2,617466;TBS2 28054444;22610794;19701191 False 1 0;0;100 1.182 False ENSG00000165617 ENSG00000165617 HGNC:17748 DLG3 gene DLG3 Expert list;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders False 1 0;100;0 1.182 True ENSG00000082458 ENSG00000082458 HGNC:2902 FOXC1 gene FOXC1 Expert list;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders False 1 0;50;50 1.182 True ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 Expert list;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders False 1 0;0;100 1.182 True ENSG00000176692 ENSG00000176692 HGNC:3801 FOXD2 gene FOXD2 Other CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 1.182 False ENSG00000186564 ENSG00000186564 HGNC:3803 GDNF gene GDNF Expert list;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders False 1 0;0;100 1.182 True ENSG00000168621 ENSG00000168621 HGNC:4232 GREM1 gene GREM1 Expert list;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders False 1 0;0;100 1.182 True ENSG00000166923 ENSG00000166923 HGNC:2001 HCN3 gene HCN3 Expert list;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders False 1 0;0;100 1.182 True ENSG00000143630 ENSG00000143630 HGNC:19183 ISL1 gene ISL1 Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders Unknown CAKUT 23641053 False 1 0;0;100 1.182 False ENSG00000016082 ENSG00000016082 HGNC:6132 KIT gene KIT Expert list;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders False 1 0;0;100 1.182 True ENSG00000157404 ENSG00000157404 HGNC:6342 MUC1 gene MUC1 Expert Review Red;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders Medullary cystic kidney disease 1, 174000 False 1 100;0;0 1.182 False ENSG00000185499 ENSG00000185499 HGNC:7508 MYH11 gene MYH11 Expert Review;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome False 1 0;0;100 1.182 True ENSG00000133392 ENSG00000133392 HGNC:7569 NEK8 gene NEK8 Expert Review Red;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415 False 1 0;0;100 1.182 True ENSG00000160602 ENSG00000160602 HGNC:13387 OCRL gene OCRL Expert Review Red;UKGTN CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females False 1 50;0;50 1.182 False ENSG00000122126 ENSG00000122126 HGNC:8108 RPGRIP1L gene RPGRIP1L Expert Review Red;UKGTN CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 1 50;0;50 1.182 False ENSG00000103494 ENSG00000103494 HGNC:29168 RRM2B gene RRM2B Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075;Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) False 1 67;0;33 1.182 True ENSG00000048392 ENSG00000048392 HGNC:17296 SHH gene SHH Expert list;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders False 1 0;0;100 1.182 True ENSG00000164690 ENSG00000164690 HGNC:10848 SIX1 gene SIX1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal Spectrum Disorders False 1 100;0;0 1.182 False ENSG00000126778 ENSG00000126778 HGNC:10887 SIX5 gene SIX5 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, OMIM:610896 False 1 100;0;0 1.182 True ENSG00000177045 ENSG00000177045 HGNC:10891 SMARCA4 gene SMARCA4 Expert list;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders Unknown False 1 0;0;100 1.182 True ENSG00000127616 ENSG00000127616 HGNC:11100 SOX17 gene SOX17 Expert Review Red;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders Vesicoureteral reflux 3, 613674 False 1 0;0;100 1.182 True ENSG00000164736 ENSG00000164736 HGNC:18122 SPRY1 gene SPRY1 Expert list;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders False 1 0;0;100 1.182 True ENSG00000164056 ENSG00000164056 HGNC:11269 TNXB gene TNXB Expert list CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders False 1 0;0;100 1.182 False ENSG00000168477 ENSG00000168477 HGNC:11976 TSHZ3 gene TSHZ3 Expert list;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 33;0;67 1.182 True ENSG00000121297 ENSG00000121297 HGNC:30700 UMOD gene UMOD Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Uromodulin-associated kidney disease;Medullary Cystic Kidney Disease 2;Hyperuricemic nephropathy, familial juvenile 1, 162000 False 1 50;0;50 1.182 False ENSG00000169344 ENSG00000169344 HGNC:12559 UPK2 gene UPK2 Expert list;Expert Review Red CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders Other - please specifiy in evaluation comments False 1 0;0;100 1.182 True ENSG00000110375 ENSG00000110375 HGNC:12579 UPK3A gene UPK3A Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal Adysplasia False 1 0;0;100 1.182 True ENSG00000100373 ENSG00000100373 HGNC:12580 VIPAS39 gene VIPAS39 Expert Review Red;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 False 1 100;0;0 1.182 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome;Arthrogryposis, renal dysfunction, and cholestasis 1, 208085;Arthrogryposis, renal dysfunction, and cholestasis False 1 67;0;33 1.182 True ENSG00000184056 ENSG00000184056 HGNC:12712