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) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 PMID: 16116425, 22095942 False 3 100;0;0 0.207 True ENSG00000159640 ENSG00000159640 HGNC:2707 ACTG2 gene ACTG2 Expert list;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Visceral myopathy, MIM# 155310" False 3 100;0;0 0.207 True ENSG00000163017 ENSG00000163017 HGNC:145 AFF3 gene AFF3 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KINSSHIP syndrome, MIM# 619297 31388108;33961779 False 3 100;0;0 0.207 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) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 PMID: 16116425, 34234805, 33163725 False 3 100;0;0 0.207 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) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 PMID: 16116425 False 3 100;0;0 0.207 False ENSG00000144891 ENSG00000144891 HGNC:336 ANOS1 gene ANOS1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 False ENSG00000011201 ENSG00000011201 HGNC:6211 BMP4 gene BMP4 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 30568244;24131739;23641053;19685083 False 3 100;0;0 0.207 True ENSG00000125378 ENSG00000125378 HGNC:1071 BNC2 gene BNC2 Expert list;Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 False ENSG00000173068 ENSG00000173068 HGNC:30988 CDX2 gene CDX2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 False ENSG00000165556 ENSG00000165556 HGNC:1806 CELSR3 gene CELSR3 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), CELSR3-related 38429302 False 3 100;0;0 0.207 True ENSG00000008300 ENSG00000008300 HGNC:3230 CENPF gene CENPF Expert list;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, MIM#243605 False 3 100;0;0 0.207 True ENSG00000117724 ENSG00000117724 HGNC:1857 CEP55 gene CEP55 Expert Review;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000138180 ENSG00000138180 HGNC:1161 CHD7 gene CHD7 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome MIM#214800 False 3 100;0;0 0.207 True ENSG00000171316 ENSG00000171316 HGNC:20626 CHRNA3 gene CHRNA3 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 False ENSG00000080644 ENSG00000080644 HGNC:1957 CTU2 gene CTU2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 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) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome;OMIM #270400 3812577;10069707;23059950;9678700 False 3 100;0;0 0.207 True ENSG00000172893 ENSG00000172893 HGNC:2860 DYRK1A gene DYRK1A Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000157540 ENSG00000157540 HGNC:3091 EXOC3L2 gene EXOC3L2 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Brain malformation renal syndrome, MIM# 620943" 30327448;28749478;27894351 False 3 100;0;0 0.207 True ENSG00000130201 ENSG00000283632 HGNC:30162 EYA1 gene EYA1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 False ENSG00000104313 ENSG00000104313 HGNC:3519 FAM58A gene FAM58A Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Other STAR syndrome, MIM# 300707 28225384;18297069 False 3 100;0;0 0.207 True - ENSG00000262919 HGNC:28434 FOXP1 gene FOXP1 Expert Review;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000114861 ENSG00000114861 HGNC:3823 FRAS1 gene FRAS1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 False ENSG00000150893 ENSG00000150893 HGNC:25396 GATA3 gene GATA3 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 False ENSG00000107485 ENSG00000107485 HGNC:4172 GDF6 gene GDF6 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic CAKUT 32737436 False 3 67;0;33 0.207 True ENSG00000156466 ENSG00000156466 HGNC:4221 GFRA1 gene GFRA1 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 4, MIM# 619887 33020172;34737117 False 3 100;0;0 0.207 False ENSG00000151892 ENSG00000151892 HGNC:4243 GLI3 gene GLI3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 False ENSG00000106571 ENSG00000106571 HGNC:4319 GPC3 gene GPC3 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 False ENSG00000147257 ENSG00000147257 HGNC:4451 GREB1L gene GREB1L Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia/aplasia 3, OMIM# 617805 29100091 False 3 100;0;0 0.207 False ENSG00000141449 ENSG00000141449 HGNC:31042 GRIP1 gene GRIP1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 3 MIM#617667;CAKUT 24700879;24357607;22510445 False 3 100;0;0 0.207 True ENSG00000155974 ENSG00000155974 HGNC:18708 HAAO gene HAAO Expert list;Expert Review Green;NHS GMS Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000162882 ENSG00000162882 HGNC:4796 HNF1B gene HNF1B Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, MIM# 137920 False 3 100;0;0 0.207 False ENSG00000108753 ENSG00000275410 HGNC:11630 HOXA13 gene HOXA13 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 False ENSG00000106031 ENSG00000106031 HGNC:5102 HPSE2 gene HPSE2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 1 MIM#236730 25145936;23313374;33558177 False 3 100;0;0 0.207 False ENSG00000172987 ENSG00000172987 HGNC:18374 HS2ST1 gene HS2ST1 Expert Review;Expert Review Green;Literature;NHS GMS Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 33159882 False 3 100;0;0 0.207 True ENSG00000153936 ENSG00000153936 HGNC:5193 HSPA9 gene HSPA9 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000113013 ENSG00000113013 HGNC:5244 ITGA8 gene ITGA8 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 1, MIM# 191830 24439109 False 3 100;0;0 0.207 False ENSG00000077943 ENSG00000077943 HGNC:6144 JAG1 gene JAG1 Expert Review Green;Literature;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome, MIM#118450 False 3 67;33;0 0.207 True ENSG00000101384 ENSG00000101384 HGNC:6188 KDM2B gene KDM2B Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474 40420380;36322151 False 3 100;0;0 0.207 True ENSG00000089094 ENSG00000089094 HGNC:13610 KDM6A gene KDM6A Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 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) 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 0.207 True ENSG00000118193 ENSG00000118193 HGNC:19181 KMT2D gene KMT2D Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 False ENSG00000167548 ENSG00000167548 HGNC:7133 KYNU gene KYNU Expert list;Expert Review Green;NHS GMS Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000115919 ENSG00000115919 HGNC:6469 LIFR gene LIFR Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT MONDO:0019719, LIFR-related 28334964;38025229 False 3 33;67;0 0.207 False ENSG00000113594 ENSG00000113594 HGNC:6597 LRIG2 gene LRIG2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 2, MIM# 615112 23313374;27855655;30885509 False 3 100;0;0 0.207 False ENSG00000198799 ENSG00000198799 HGNC:20889 LRP4 gene LRP4 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 False ENSG00000134569 ENSG00000134569 HGNC:6696 MYOCD gene MYOCD Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megabladder;congenital heart disease;cardiomyopathy 31513549 False 3 100;0;0 0.207 True ENSG00000141052 ENSG00000141052 HGNC:16067 NADSYN1 gene NADSYN1 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000172890 ENSG00000172890 HGNC:29832 NFIA gene NFIA Expert Review;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000162599 ENSG00000162599 HGNC:7784 NIPBL gene NIPBL Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 False ENSG00000164190 ENSG00000164190 HGNC:28862 NOTCH2 gene NOTCH2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000134250 ENSG00000134250 HGNC:7882 NPHP3 gene NPHP3 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 False 3 100;0;0 0.207 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPNT gene NPNT Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal agenesis, MONDO:0018470, NPNT-related PMID: 35246978;34049960;17537792 False 3 100;0;0 0.207 False ENSG00000168743 ENSG00000168743 HGNC:27405 NR6A1 gene NR6A1 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculovertebral syndrome, MIM# 621277 39606382;40774958 False 3 100;0;0 0.207 True ENSG00000148200 ENSG00000148200 HGNC:7985 PAN2 gene PAN2 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384" PMID:35304602;29620724 False 3 100;0;0 0.207 True ENSG00000135473 ENSG00000135473 HGNC:20074 PAX2 gene PAX2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Papillorenal syndrome, MIM# 120330;Renal coloboma syndrome, MONDO:0007352 21654726;24676634;31060108;32203253 False 3 100;0;0 0.207 False ENSG00000075891 ENSG00000075891 HGNC:8616 PBX1 gene PBX1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 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) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 PMID: 16116425 False 3 100;0;0 0.207 False ENSG00000143839 ENSG00000143839 HGNC:9958 RET gene RET Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT MONDO:0019719, RET-related 22729463 False 3 100;0;0 0.207 False ENSG00000165731 ENSG00000165731 HGNC:9967 ROBO1 gene ROBO1 Expert Review Green;Literature;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Neurooculorenal syndrome, MIM# 620305" PMID: 35227688 False 3 100;0;0 0.207 True ENSG00000169855 ENSG00000169855 HGNC:10249 ROBO2 gene ROBO2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vesicoureteral reflux 2 - MIM#610878;CAKUT 18235093;19350278;24429398;17357069;26026792;29194579;34059960 False 3 100;0;0 0.207 False ENSG00000185008 ENSG00000185008 HGNC:10250 ROR2 gene ROR2 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 False ENSG00000169071 ENSG00000169071 HGNC:10257 SALL1 gene SALL1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 3 100;0;0 0.207 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SALL4- related disorders 20301547 False 3 100;0;0 0.207 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) 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 0.207 True ENSG00000158352 ENSG00000158352 HGNC:29215 SLC20A1 gene SLC20A1 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 False ENSG00000144136 ENSG00000144136 HGNC:10946 SON gene SON Expert Review;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ZTTK syndrome, MIM# 617140 27545680;27545676;31005274 False 3 100;0;0 0.207 True ENSG00000159140 ENSG00000159140 HGNC:11183 STRA6 gene STRA6 Expert list;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated, with coloboma 8, MIM#601186 False 3 100;0;0 0.207 True ENSG00000137868 ENSG00000137868 HGNC:30650 TBC1D1 gene TBC1D1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 26572137 False 3 100;0;0 0.207 False ENSG00000065882 ENSG00000065882 HGNC:11578 TBX18 gene TBX18 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 False ENSG00000112837 ENSG00000112837 HGNC:11595 TBX6 gene TBX6 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000149922 ENSG00000149922 HGNC:11605 TFAP2A gene TFAP2A Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiooculofacial syndrome, MIM# 113620 False 3 100;0;0 0.207 True ENSG00000137203 ENSG00000137203 HGNC:11742 TMEM260 gene TMEM260 Expert Review;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000070269 ENSG00000070269 HGNC:20185 TOP2B gene TOP2B Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000077097 ENSG00000077097 HGNC:11990 TRAP1 gene TRAP1 Expert Review Green;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, TRAP1-related 24152966 False 3 100;0;0 0.207 False ENSG00000126602 ENSG00000126602 HGNC:16264 WBP11 gene WBP11 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000084463 ENSG00000084463 HGNC:16461 WDR44 gene WDR44 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000131725 ENSG00000131725 HGNC:30512 WLS gene WLS Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Zaki syndrome, MIM#619648 PMID: 34587386 False 3 100;0;0 0.207 True ENSG00000116729 ENSG00000116729 HGNC:30238 WNT5A gene WNT5A Expert list;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1, MIM#180700 False 3 100;0;0 0.207 True ENSG00000114251 ENSG00000114251 HGNC:12784 ZIC3 gene ZIC3 Expert list;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000156925 ENSG00000156925 HGNC:12874 ZMYM2 gene ZMYM2 Expert Review Green;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000121741 ENSG00000121741 HGNC:12989 ARID3A gene ARID3A Expert Review Amber;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomaly of kidney and urinary tract, MONDO:0019719, ARID3A-related 40774958 False 2 0;100;0 0.207 False ENSG00000116017 ENSG00000116017 HGNC:3031 BCORL1 gene BCORL1 Expert Review;Expert Review Amber Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 False ENSG00000085185 ENSG00000085185 HGNC:25657 BICC1 gene BICC1 Expert Review Amber;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multicystic dysplastic kidney, MONDO:0015988;polycystic kidney disease, MONDO:0020642 21922595, 35005812, 39253489, 39655693, 41278337 False 2 0;50;50 0.207 False ENSG00000122870 ENSG00000122870 HGNC:19351 COQ7 gene COQ7 Expert list;Expert Review Amber;Expert Review Green Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 8, MIM#616733 31240163;28409910;26084283 False 2 67;0;33 0.207 True ENSG00000167186 ENSG00000167186 HGNC:2244 DACT1 gene DACT1 Expert list;Expert Review Amber;NHS GMS Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome 2, MIM#617466 28054444 False 2 0;67;33 0.207 True ENSG00000165617 ENSG00000165617 HGNC:17748 DMRT2 gene DMRT2 Expert Review Amber;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523 PMID: 41014130;29681102;16387292 False 2 0;100;0 0.207 True ENSG00000173253 ENSG00000173253 HGNC:2935 DSTYK gene DSTYK Expert Review Amber;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract 1, MIM# 610805 23862974;37746849;34608560;28618409 False 2 33;33;33 0.207 False ENSG00000133059 ENSG00000133059 HGNC:29043 FGF20 gene FGF20 Expert list;Expert Review Amber Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 2, MIM#615721 22698282 False 2 0;100;0 0.207 False ENSG00000078579 ENSG00000078579 HGNC:3677 FOXC1 gene FOXC1 Expert Review Amber;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000054598 ENSG00000054598 HGNC:3800 NFXL1 gene NFXL1 Expert Review Amber;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease (MONDO:0002254), NFXL1-related 40430072;41024252 False 2 0;100;0 0.207 True ENSG00000170448 ENSG00000170448 HGNC:18726 NRIP1 gene NRIP1 Expert Review Amber;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital anomalies of kidney and urinary tract 3 MONDO:0032646 28381549;34525250 False 2 0;100;0 0.207 False ENSG00000180530 ENSG00000180530 HGNC:8001 PTCH1 gene PTCH1 Expert Review Amber;Other Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exstrophy-epispadias complex MONDO:0017919, PTCH1-related False 2 0;100;0 0.207 False ENSG00000185920 ENSG00000185920 HGNC:9585 SLIT2 gene SLIT2 Expert Review Amber;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT MONDO:0019719, SLIT2-related 26026792;15130495 False 2 0;100;0 0.207 False ENSG00000145147 ENSG00000145147 HGNC:11086 SOX11 gene SOX11 Expert list;Expert Review Amber Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 False ENSG00000176887 ENSG00000176887 HGNC:11191 SRGAP1 gene SRGAP1 Expert Review Amber;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT, MONDO:0019719, SRGAP1-related 26026792 False 2 0;100;0 0.207 False ENSG00000196935 ENSG00000196935 HGNC:17382 TSHZ3 gene TSHZ3 Expert Review Amber;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 True ENSG00000121297 ENSG00000121297 HGNC:30700 WNT4 gene WNT4 Expert Review Amber;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal SERKAL syndrome;OMIM #611812 18179883 False 2 0;50;50 0.207 True ENSG00000162552 ENSG00000162552 HGNC:12783 WNT9B gene WNT9B Expert Review Amber;Literature;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal agenesis/hypoplasia/dysplasia, no OMIM # PMID: 34145744 False 2 0;100;0 0.207 False ENSG00000158955 ENSG00000158955 HGNC:12779 BMP7 gene BMP7 Expert list;Expert Review Red Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 False ENSG00000101144 ENSG00000101144 HGNC:1074 CBWD1 gene CBWD1 Expert Review Red;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal CAKUT 31862704 False 1 0;0;100 0.207 False ENSG00000172785 ENSG00000172785 HGNC:17134 CDC5L gene CDC5L Expert list;Expert Review Red Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 False ENSG00000096401 ENSG00000096401 HGNC:1743 CHD1L gene CHD1L Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 22146311;24429398 False 1 50;50;0 0.207 False ENSG00000131778 ENSG00000131778 HGNC:1916 CHRM5 gene CHRM5 Expert Review Red;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related 37213061 False 1 0;0;100 0.207 True ENSG00000184984 ENSG00000184984 HGNC:1954 EZH2 gene EZH2 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 1 67;0;33 0.207 True ENSG00000106462 ENSG00000106462 HGNC:3527 FGF10 gene FGF10 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome;OMIM #149730 False 1 50;0;50 0.207 True ENSG00000070193 ENSG00000070193 HGNC:3666 FGF8 gene FGF8 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 6 with or without anosmia;OMIM #612702 False 1 0;50;50 0.207 False ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 1 0;0;0 0.207 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 1 50;0;50 0.207 True ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert list;Expert Review Green;Expert Review Red Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LADD syndrome, MIM#149730 False 1 67;0;33 0.207 True ENSG00000068078 ENSG00000068078 HGNC:3690 FOXC2 gene FOXC2 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus;OMIM #153400 15523639 False 1 50;0;50 0.207 True ENSG00000176692 ENSG00000176692 HGNC:3801 HOXA4 gene HOXA4 Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 1 0;0;100 0.207 False ENSG00000197576 ENSG00000197576 HGNC:5105 HOXB6 gene HOXB6 Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 1 0;0;100 0.207 False ENSG00000108511 ENSG00000108511 HGNC:5117 SEMA3A gene SEMA3A Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown False 1 50;0;50 0.207 True ENSG00000075213 ENSG00000075213 HGNC:10723 SIX1 gene SIX1 Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootic syndrome 3, MIM#608389;Deafness, autosomal dominant 23, MIM# 605192 False 1 50;0;50 0.207 True ENSG00000126778 ENSG00000126778 HGNC:10887 SIX2 gene SIX2 Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT, MONDO:0019719, SIX2-related 24429398 False 1 0;0;100 0.207 False ENSG00000170577 ENSG00000170577 HGNC:10888 SIX5 gene SIX5 Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) 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 1 0;100;0 0.207 True ENSG00000177045 ENSG00000177045 HGNC:10891 SOX17 gene SOX17 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vesicoureteral reflux 3;OMIM #613674 20960469 False 1 50;0;50 0.207 False ENSG00000164736 ENSG00000164736 HGNC:18122 TBC1D31 gene TBC1D31 Expert Review Red;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) 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 0.207 False ENSG00000156787 ENSG00000156787 HGNC:30888 TNXB gene TNXB Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vesicoureteral reflux 8, MIM# 615963 23620400 False 1 0;0;100 0.207 False 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) Renal and urinary tract disorders Unknown False 1 0;0;100 0.207 False ENSG00000169344 ENSG00000169344 HGNC:12559 UPK3A gene UPK3A Expert Review Red;Victorian Clinical Genetics Services Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders Unknown Congenital anomaly of kidney and urinary tract, MONDO:0019719 False 1 0;0;100 0.207 False ENSG00000100373 ENSG00000100373 HGNC:12580 WNT11 gene WNT11 Expert Review Red;Literature Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Laterality defects;complex congenital heart defects;renal defects PMID: 40200693 False 1 0;0;100 0.207 True ENSG00000085741 ENSG00000085741 HGNC:12776 HOXA13_HFGS_GCN3 str HOXA13 Expert list;Expert Review Green;Expert Review Green;Expert list Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hand-foot-uterus syndrome MIM#140000 10839976;12073020;33811808 False 3 100;0;0 0.207 False ENSG00000106031 ENSG00000106031 HGNC:5102 7 27239298 27239351 27199679 27199732 GCN 18 24 ISCA-37432-Gain region Expert list;Expert Review Green;Expert list;Expert list Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Chromosome 17q12 duplication syndrome 614526;intellectual disability;seizures;congenital anomalies" PMID: 19844256 False 3 100;0;0 0.207 False 17 36458167 37854617 3 80 cnv_gain Chromosome 17q12 duplication syndrome ISCA-37432-Gain region Expert list;Expert Review Green;Expert list;Expert list Congenital anomalies of the kidney and urinary tract (CAKUT) Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Chromosome 17q12 duplication syndrome 614526;intellectual disability;seizures;congenital anomalies" PMID: 19844256 False 3 100;0;0 0.207 False 17 36458167 37854617 3 80 cnv_gain Chromosome 17q12 duplication syndrome