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 list;Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 PMID: 16116425, 22095942 False 3 100;0;0 0.145 True ENSG00000159640 ENSG00000159640 HGNC:2707 ACTG2 gene ACTG2 Expert list;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Visceral myopathy, MIM# 155310" False 3 100;0;0 0.145 True ENSG00000163017 ENSG00000163017 HGNC:145 AFF3 gene AFF3 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KINSSHIP syndrome, MIM# 619297 31388108;33961779 False 3 100;0;0 0.145 True ENSG00000144218 ENSG00000144218 HGNC:6473 AGT gene AGT Expert list;Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 PMID: 16116425, 34234805, 33163725 False 3 100;0;0 0.145 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 PMID: 16116425 False 3 100;0;0 0.145 False ENSG00000144891 ENSG00000144891 HGNC:336 ANOS1 gene ANOS1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000011201 ENSG00000011201 HGNC:6211 BMP4 gene BMP4 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 30568244;24131739;23641053;19685083 False 3 100;0;0 0.145 True ENSG00000125378 ENSG00000125378 HGNC:1071 CELSR3 gene CELSR3 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), CELSR3-related 38429302 False 3 100;0;0 0.145 True ENSG00000008300 ENSG00000008300 HGNC:3230 CENPF gene CENPF Expert list;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, MIM#243605 False 3 100;0;0 0.145 True ENSG00000117724 ENSG00000117724 HGNC:1857 CEP55 gene CEP55 Expert Review;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500 28295209;28264986;30622327 False 3 50;50;0 0.145 True ENSG00000138180 ENSG00000138180 HGNC:1161 CHD7 gene CHD7 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome MIM#214800 False 3 100;0;0 0.145 True ENSG00000171316 ENSG00000171316 HGNC:20626 CTU2 gene CTU2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 27480277;26633546 False 3 100;0;0 0.145 True ENSG00000174177 ENSG00000174177 HGNC:28005 DHCR7 gene DHCR7 Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome;OMIM #270400 3812577;10069707;23059950;9678700 False 3 100;0;0 0.145 True ENSG00000172893 ENSG00000172893 HGNC:2860 DYRK1A gene DYRK1A Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 7 (MIM#614104) 25707398;31263215 False 3 100;0;0 0.145 True ENSG00000157540 ENSG00000157540 HGNC:3091 EXOC3L2 gene EXOC3L2 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Brain malformation renal syndrome, MIM# 620943" 30327448;28749478;27894351 False 3 100;0;0 0.145 True ENSG00000130201 ENSG00000283632 HGNC:30162 EYA1 gene EYA1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000104313 ENSG00000104313 HGNC:3519 FAM58A gene FAM58A Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Other STAR syndrome, MIM# 300707 28225384;18297069 False 3 100;0;0 0.145 True - ENSG00000262919 HGNC:28434 FOXP1 gene FOXP1 Expert Review;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mental retardation with language impairment and with or without autistic features, MIM# 613670" 27657687 False 3 100;0;0 0.145 True ENSG00000114861 ENSG00000114861 HGNC:3823 FRAS1 gene FRAS1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000150893 ENSG00000150893 HGNC:25396 GDF6 gene GDF6 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic CAKUT 32737436 False 3 67;0;33 0.145 True ENSG00000156466 ENSG00000156466 HGNC:4221 GLI3 gene GLI3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000106571 ENSG00000106571 HGNC:4319 GPC3 gene GPC3 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000147257 ENSG00000147257 HGNC:4451 GRIP1 gene GRIP1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 3 MIM#617667;CAKUT 24700879;24357607;22510445 False 3 100;0;0 0.145 True ENSG00000155974 ENSG00000155974 HGNC:18708 HAAO gene HAAO Expert list;Expert Review Green;NHS GMS Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660 28792876;33942433 False 3 100;0;0 0.145 True ENSG00000162882 ENSG00000162882 HGNC:4796 HOXA13 gene HOXA13 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000106031 ENSG00000106031 HGNC:5102 HS2ST1 gene HS2ST1 Expert Review;Expert Review Green;Literature;NHS GMS Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 33159882 False 3 100;0;0 0.145 True ENSG00000153936 ENSG00000153936 HGNC:5193 HSPA9 gene HSPA9 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Even-plus syndrome, MIM# 616854;skeletal anomalies;congenital cardiac and renal anomalies: marked small nose" 26598328;32869452 False 3 100;0;0 0.145 True ENSG00000113013 ENSG00000113013 HGNC:5244 JAG1 gene JAG1 Expert Review Green;Literature;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 50;50;0 0.145 False ENSG00000101384 ENSG00000101384 HGNC:6188 KDM6A gene KDM6A Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIF14 gene KIF14 Expert Review Green;Literature;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly 20, primary, autosomal recessive, OMIM #617914;?Meckel syndrome 12, OMIM #616258 PMID: 30388224. 24128419 False 3 100;0;0 0.145 True ENSG00000118193 ENSG00000118193 HGNC:19181 KMT2D gene KMT2D Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000167548 ENSG00000167548 HGNC:7133 KYNU gene KYNU Expert list;Expert Review Green;NHS GMS Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661 28792876 False 3 100;0;0 0.145 True ENSG00000115919 ENSG00000115919 HGNC:6469 LRP4 gene LRP4 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000134569 ENSG00000134569 HGNC:6696 MYOCD gene MYOCD Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megabladder;congenital heart disease;cardiomyopathy 31513549 False 3 100;0;0 0.145 True ENSG00000141052 ENSG00000141052 HGNC:16067 NADSYN1 gene NADSYN1 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077;Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845 31883644 False 3 100;0;0 0.145 True ENSG00000172890 ENSG00000172890 HGNC:29832 NFIA gene NFIA Expert Review;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain malformations with or without urinary tract defects - MIM#613735 35018717;33973697;32926563 False 3 100;0;0 0.145 True ENSG00000162599 ENSG00000162599 HGNC:7784 NIPBL gene NIPBL Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000164190 ENSG00000164190 HGNC:28862 NOTCH2 gene NOTCH2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 2 (MIM#610205);Hajdu-Cheney syndrome (MIM#102500) 16773578;21378985;21378989 False 3 100;0;0 0.145 True ENSG00000134250 ENSG00000134250 HGNC:7882 NR6A1 gene NR6A1 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniofacial microsomia MONDO:0015397 39606382 False 3 100;0;0 0.145 True ENSG00000148200 ENSG00000148200 HGNC:7985 PAN2 gene PAN2 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease MONDO:0002254 PMID:35304602;29620724 False 3 100;0;0 0.145 True ENSG00000135473 ENSG00000135473 HGNC:20074 PBX1 gene PBX1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641 28566479;29036646 False 3 100;0;0 0.145 True ENSG00000185630 ENSG00000185630 HGNC:8632 REN gene REN Expert list;Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 PMID: 16116425 False 3 100;0;0 0.145 False ENSG00000143839 ENSG00000143839 HGNC:9958 ROBO1 gene ROBO1 Expert Review Green;Literature;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Neurooculorenal syndrome, MIM# 620305" PMID: 35227688 False 3 100;0;0 0.145 True ENSG00000169855 ENSG00000169855 HGNC:10249 ROR2 gene ROR2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000169071 ENSG00000169071 HGNC:10257 SALL1 gene SALL1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders Unknown False 3 100;0;0 0.145 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SALL4- related disorders 20301547 False 3 100;0;0 0.145 True ENSG00000101115 ENSG00000101115 HGNC:15924 SHROOM4 gene SHROOM4 Expert Review Green;Literature;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719 36379543 False 3 50;50;0 0.145 True ENSG00000158352 ENSG00000158352 HGNC:29215 SON gene SON Expert Review;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ZTTK syndrome, MIM# 617140 27545680;27545676;31005274 False 3 100;0;0 0.145 True ENSG00000159140 ENSG00000159140 HGNC:11183 STRA6 gene STRA6 Expert list;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated, with coloboma 8, MIM#601186 False 3 100;0;0 0.145 True ENSG00000137868 ENSG00000137868 HGNC:30650 TBX6 gene TBX6 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Mayer-Rokitansky-K ster-Hauser syndrome, MONDO:0017771, TBX6-related;Combined skeletal-kidney dysplasia syndrome PMID: 36112137, 36161696 False 3 100;0;0 0.145 True ENSG00000149922 ENSG00000149922 HGNC:11605 TFAP2A gene TFAP2A Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiooculofacial syndrome, MIM# 113620 False 3 100;0;0 0.145 True ENSG00000137203 ENSG00000137203 HGNC:11742 TMEM260 gene TMEM260 Expert Review;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Structural heart defects and renal anomalies syndrome, MIM# 617478 28318500;34612517 False 3 100;0;0 0.145 True ENSG00000070269 ENSG00000070269 HGNC:20185 TOP2B gene TOP2B Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296 31409799 False 3 100;0;0 0.145 True ENSG00000077097 ENSG00000077097 HGNC:11990 WBP11 gene WBP11 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227;malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems" 33276377 False 3 100;0;0 0.145 True ENSG00000084463 ENSG00000084463 HGNC:16461 WDR44 gene WDR44 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliopathy, MONDO:0005308, WDR44-related PMID: 38191484 False 3 100;0;0 0.145 True ENSG00000131725 ENSG00000131725 HGNC:30512 WLS gene WLS Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Zaki syndrome, MIM#619648 PMID: 34587386 False 3 100;0;0 0.145 True ENSG00000116729 ENSG00000116729 HGNC:30238 WNT5A gene WNT5A Expert list;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1, MIM#180700 False 3 100;0;0 0.145 True ENSG00000114251 ENSG00000114251 HGNC:12784 ZIC3 gene ZIC3 Expert list;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females VACTERL association, X-linked, MIM#314390 False 3 100;0;0 0.145 True ENSG00000156925 ENSG00000156925 HGNC:12874 ZMYM2 gene ZMYM2 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522 32891193 False 3 100;0;0 0.145 True ENSG00000121741 ENSG00000121741 HGNC:12989 COQ7 gene COQ7 Expert list;Expert Review Amber;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 8, MIM#616733 31240163;28409910;26084283 False 2 67;0;33 0.145 True ENSG00000167186 ENSG00000167186 HGNC:2244 DACT1 gene DACT1 Expert list;Expert Review Amber;NHS GMS Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome 2, MIM#617466 28054444 False 2 0;67;33 0.145 True ENSG00000165617 ENSG00000165617 HGNC:17748 FOXC1 gene FOXC1 Expert Review Amber;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of the kidney and urinary tract (CAKUT) 32475988 False 2 0;100;0 0.145 True ENSG00000054598 ENSG00000054598 HGNC:3800 SIX5 gene SIX5 Expert Review Amber;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, MIM# 610896 17357085;33624842;20301554;24730701;22447252;21280147;14704431;11950062;10802667;10802668 False 2 0;100;0 0.145 True ENSG00000177045 ENSG00000177045 HGNC:10891 TSHZ3 gene TSHZ3 Expert Review Amber;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital anomaly of kidney and urinary tract MONDO:0019719 27668656;34919690;36553458;39420202 False 2 0;100;0 0.145 True ENSG00000121297 ENSG00000121297 HGNC:30700