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;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal Tubular Dysgenesis;{Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular 30058238;16116425 False 3 100;0;0 1.182 True ENSG00000159640 ENSG00000159640 HGNC:2707 ACTG2 gene ACTG2 Expert Review;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megacystis-microcolon intestinal hypoperistalsis syndrome; visceral myopathy; Berdon syndrome PMID: 25998219 False 3 100;0;0 1.182 False ENSG00000163017 ENSG00000163017 HGNC:145 AGT gene AGT Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal Tubular Dysgenesis;{Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430 False 3 100;0;0 1.182 True ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal Tubular Dysgenesis;Hypertension, essential, 145500;Renal tubular dysgenesis, 267430 False 3 100;0;0 1.182 True ENSG00000144891 ENSG00000144891 HGNC:336 ANOS1 gene ANOS1 Expert Review;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Kallman syndrome;Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) False 3 100;0;0 1.182 False ENSG00000011201 ENSG00000011201 HGNC:6211 BNC2 gene BNC2 Expert Review Green;Other CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Posterior urethral valves;PUV;Congenital lower urinary-tract obstruction;Lower urinary tract obstruction, congenital, 618612 31051115 False 3 50;0;50 1.182 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000173068 ENSG00000173068 HGNC:30988 CEP55 gene CEP55 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500;MARCH syndrome;Meckel-like syndrome;lethal CEP55-related syndromes 30622327;28264986;32100459;28295209 False 3 100;0;0 1.182 False ENSG00000138180 ENSG00000138180 HGNC:1161 CHD7 gene CHD7 Expert Review;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome False 3 100;0;0 1.182 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHRM3 gene CHRM3 Expert Review;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Prune belly syndrome, OMIM:100100;Megacystis;Urinary Bladder Disease 10944224;22077972;31441039 False 3 50;0;50 1.182 False ENSG00000133019 ENSG00000133019 HGNC:1952 CHRNA3 gene CHRNA3 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal CAKUT;dysautonomia 31708116 False 3 100;0;0 1.182 False ENSG00000080644 ENSG00000080644 HGNC:1957 CTU2 gene CTU2 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal DREAM PL syndrome;Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 27480277;26633546;31301155 False 3 100;0;0 1.182 False ENSG00000174177 ENSG00000174177 HGNC:28005 DHCR7 gene DHCR7 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, 270400;renal agenesis 3812577;10069707;23059950;9678700;31840946 False 3 100;0;0 1.182 False ENSG00000172893 ENSG00000172893 HGNC:2860 DSTYK gene DSTYK Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia;ureteropelvic junction obstruction;vesicoureteric reflux;CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1;{Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805 False 3 50;0;50 1.182 False ENSG00000133059 ENSG00000133059 HGNC:29043 EYA1 gene EYA1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;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 1, with or without cataracts, 113650;Anterior segment anomalies with or without cataract, 113650;Branchiootic syndrome 1, 602588;Otofaciocervical syndrome, 166780;Branchiootorenal Spectrum Disorders False 3 100;0;0 1.182 True ENSG00000104313 ENSG00000104313 HGNC:3519 FAM58A gene FAM58A Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) STAR syndrome, 300707;Syndactyly, Telecanthus, Anogenital malformations and Renal malformations 28225384;18297069 False 3 100;0;0 1.182 False ENSG00000147382 ENSG00000262919 HGNC:28434 FRAS1 gene FRAS1 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome False 3 100;0;0 1.182 True ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bifid nose with or without anorectal and renal anomalies, 608980 PMID: 24700879 False 3 100;0;0 1.182 True ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome False 3 100;0;0 1.182 True ENSG00000150893 ENSG00000150893 HGNC:25396 GATA3 gene GATA3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, Sensorineural Deafness, and Renal Disease;Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 False 3 100;0;0 1.182 True ENSG00000107485 ENSG00000107485 HGNC:4172 GLI3 gene GLI3 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pallister-Hall syndrome, OMIM:146510 False 3 100;0;0 1.182 False ENSG00000106571 ENSG00000106571 HGNC:4319 GPC3 gene GPC3 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Simpson-Golabi-Behmel syndrome, type 1 312870" 29637653;23606591;20301398 False 3 100;0;0 1.182 False ENSG00000147257 ENSG00000147257 HGNC:4451 GREB1L gene GREB1L Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia/aplasia 3, OMIM:617805 Renal agenesis, MONDO:0018470 29100091;29220675 False 3 100;0;0 1.182 False ENSG00000141449 ENSG00000141449 HGNC:31042 GRIP1 gene GRIP1 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome;isolated CAKUT PMID: 22510445;24700879;14730302. False 3 100;0;0 1.182 True ENSG00000155974 ENSG00000155974 HGNC:18708 HAAO gene HAAO Expert Review Green;Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital malformations; VACTERL-like phenotype 27604308; 17334708; 28792876 False 3 0;0;0 1.182 False ENSG00000162882 ENSG00000162882 HGNC:4796 HNF1B gene HNF1B Eligibility statement prior genetic testing;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome;Diabetes mellitus, noninsulin-dependent False 3 100;0;0 1.182 True ENSG00000108753 ENSG00000275410 HGNC:11630 HOXA13 gene HOXA13 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hand-foot-uterus syndrome, 140000 30649340;28947713;24934387;23376215 False 3 100;0;0 1.182 False ENSG00000106031 ENSG00000106031 HGNC:5102 HPSE2 gene HPSE2 Expert Review;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Urofacial Syndrome;Congenital bladder disease: dyssynergic, high pressure bladder Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet 11:963-969, 2010. False 3 100;0;0 1.182 True ENSG00000172987 ENSG00000172987 HGNC:18374 ITGA8 gene ITGA8 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 1, 191830 False 3 100;0;0 1.182 True ENSG00000077943 ENSG00000077943 HGNC:6144 JAG1 gene JAG1 Expert Review Green;Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 1, OMIM:118450 22105858;23752887 False 3 100;0;0 1.182 False ENSG00000101384 ENSG00000101384 HGNC:6188 KDM6A gene KDM6A Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Kabuki syndrome 2, 300867 23535010 False 3 100;0;0 1.182 False ENSG00000147050 ENSG00000147050 HGNC:12637 KMT2D gene KMT2D Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, 147920 23535010 False 3 100;0;0 1.182 False ENSG00000167548 ENSG00000167548 HGNC:7133 KYNU gene KYNU Expert Review Green;Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); ?Hydroxykynureninuria, 236800; multiple congenital malformations; VACTERL-like phenotype 27604308; 17334708; 28792876 False 3 0;0;0 1.182 False ENSG00000115919 ENSG00000115919 HGNC:6469 LIFR gene LIFR Expert Review Green;Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 28334964 False 3 100;0;0 1.182 False ENSG00000113594 ENSG00000113594 HGNC:6597 LRIG2 gene LRIG2 Expert Review;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome;Congenital bladder disease: dyssynergic, high pressure bladder. 23313374 False 3 100;0;0 1.182 True ENSG00000198799 ENSG00000198799 HGNC:20889 LRP4 gene LRP4 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cenani-Lenz syndactyly syndrome, 212780 20381006;23636941;24924585;26847765 False 3 100;0;0 1.182 False ENSG00000134569 ENSG00000134569 HGNC:6696 MYOCD gene MYOCD Expert Review Green;Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megabladder, congenital, OMIM:618719;Megabladder, congenital, MONDO:0032879 31513549 False 3 100;0;0 1.182 False ENSG00000141052 ENSG00000141052 HGNC:16067 NADSYN1 gene NADSYN1 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 3 618845 31883644 False 3 100;0;0 1.182 False ENSG00000172890 ENSG00000172890 HGNC:29832 NIPBL gene NIPBL Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 1 122470 8291540;8291537;16799922;15146186;15146185;15318302 False 3 100;0;0 1.182 False ENSG00000164190 ENSG00000164190 HGNC:28862 NOTCH2 gene NOTCH2 Expert Review Green;Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 2 610205 22105858;16773578;22209762 False 3 100;0;0 1.182 False ENSG00000134250 ENSG00000134250 HGNC:7882 NPHP3 gene NPHP3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 3, 604387;Renal-hepatic-pancreatic dysplasia 1, 208540;Meckel syndrome 7, 267010;Renal-Hepatic-Pancreatic Dysplasia False 3 100;0;0 1.182 True ENSG00000113971 ENSG00000113971 HGNC:7907 PAX2 gene PAX2 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Papillorenal syndrome, 120330;RENAL-COLOBOMA SYNDROME;Papillorenal syndrome;Glomerulosclerosis, focal segmental, 7 False 3 100;0;0 1.182 False ENSG00000075891 ENSG00000075891 HGNC:8616 PBX1 gene PBX1 Expert Review Green;Other CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAKUT 28566479;28270404 False 3 0;0;100 1.182 True ENSG00000185630 ENSG00000185630 HGNC:8632 PLVAP gene PLVAP Expert Review Green;Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Diarrhoea 10, protein-losing enteropathy type, OMIM:618183 29875123;29661969;26207260;31215290 False 3 100;0;0 1.182 False ENSG00000130300 ENSG00000130300 HGNC:13635 REN gene REN Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal Tubular Dysgenesis;[Hyperproreninemia] False 3 100;0;0 1.182 False ENSG00000143839 ENSG00000143839 HGNC:9958 RET gene RET Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal Adysplasia;Multiple endocrine neoplasia IIA, 171400;Medullary thyroid carcinoma, 155240;Multiple endocrine neoplasia IIB, 162300;Central hypoventilation syndrome, congenital, 209880;Pheochromocytoma, 171300;Renal agenesis, 191830;{Hirschsprung disease, susceptibility to, 1}, 142623 False 3 100;0;0 1.182 False ENSG00000165731 ENSG00000165731 HGNC:9967 ROBO1 gene ROBO1 Expert Review Green;Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Neurooculorenal syndrome, OMIM:620305 35227688 False 3 100;0;0 1.182 False ENSG00000169855 ENSG00000169855 HGNC:10249 ROBO2 gene ROBO2 Expert list;Expert Review Green;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, imprinted status unknown Vesicoureteral reflux 2 610878 27002985;24429398;29194579;31630547;27460642;17357069 False 3 25;0;75 1.182 True ENSG00000185008 ENSG00000185008 HGNC:10250 ROR2 gene ROR2 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive 268310 15952209;10932187;19640924;18831060 False 3 100;0;0 1.182 False ENSG00000169071 ENSG00000169071 HGNC:10257 SALL1 gene SALL1 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome, 107480;Townes-Brocks branchiootorenal-like syndrome, 107480;imperforate anus, ear abnormalities, thumb abnormalities False 3 100;0;0 1.182 True ENSG00000103449 ENSG00000103449 HGNC:10524 STRA6 gene STRA6 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Microphthalmia, syndromic 9, MIM# 601186" 26373900;17503335 False 3 100;0;0 1.182 False ENSG00000137868 ENSG00000137868 HGNC:30650 TBC1D1 gene TBC1D1 Expert Review Green;Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT PMID: 26572137 False 3 100;0;0 1.182 False ENSG00000065882 ENSG00000065882 HGNC:11578 TBX18 gene TBX18 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAKUT;Renal cysts and diabetes;glomerulocystic kidney disease;hypomagneseamia;Congenital anomalies of kidney and urinary tract 2, 143400 26235987 False 3 67;0;33 1.182 False ENSG00000112837 ENSG00000112837 HGNC:11595 TFAP2A gene TFAP2A Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Branchiooculofacial syndrome, MIM# 113620" 21204207;31160420 False 3 100;0;0 1.182 False ENSG00000137203 ENSG00000137203 HGNC:11742 TMEM260 gene TMEM260 Expert Review Green;PAGE DD-Gene2Phenotype CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Structural heart defects and renal anomalies syndrome, OMIM:617478;Structural heart defects and renal anomalies syndrome, MONDO:0044321 28318500;34612517 False 3 25;75;0 1.182 False ENSG00000070269 ENSG00000070269 HGNC:20185 TRAP1 gene TRAP1 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. False 3 100;0;0 1.182 True ENSG00000126602 ENSG00000126602 HGNC:16264 WBP11 gene WBP11 Expert Review Green;Literature CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 33276377 False 3 100;0;0 1.182 False ENSG00000084463 ENSG00000084463 HGNC:16461 ZIC3 gene ZIC3 Expert list;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "VACTERL association, X-linked, MIM# 314390" 26294094;20452998 False 3 100;0;0 1.182 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZMYM2 gene ZMYM2 Expert Review;Expert Review Green CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522 32891193 False 3 100;0;0 1.182 False ENSG00000121741 ENSG00000121741 HGNC:12989 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 1.182 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, OMIM:243605 25564561;26820108;27300082 False 2 100;0;0 1.182 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 Brain malformation renal syndrome, OMIM:620943 30327448;28749478;27894351 False 2 100;0;0 1.182 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 1.182 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 1.182 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 1.182 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 1.182 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 1.182 False ENSG00000114251 ENSG00000114251 HGNC:12784 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 ISCA-37432-Loss region Expert Review Green;ClinGen CAKUT Structural renal and urinary tract disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RCAD syndrome;utero-vaginal atresia;Schizophrenia;614527;delayed development, intellectual disability;Renal cysts and diabetes syndrome;Autism Spectrum Disorder;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;Chromosome 17q12 deletion syndrome;global developmental delay False 3 0;0;0 1.182 False 17 36458167 37854616 3 60 cnv_loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss