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 CDX1 gene CDX1 Expert Review Green;Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown anorectal malformation 23329892;27042391 False 3 0;0;0 1.14 False ENSG00000113722 ENSG00000113722 HGNC:1805 FAM58A gene FAM58A Expert list;Expert Review Green Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) anorectal malformation;STAR syndrome 300707 18297069;8818947;28225384;28322501;29088509;26225595 False 3 0;0;0 1.14 False ENSG00000147382 ENSG00000262919 HGNC:28434 FANCB gene FANCB Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;UKGTN Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Vacterl Association, X-Linked, With Or Without Hydrocephalus;anorectal malformation;VACTERL Association with Hydrocephalus;Fanconi anemia, complementation group B 300514;FANCB-RELATED FANCONI ANEMIA 29232005;24416387;26683739 False 3 100;0;0 1.14 False ENSG00000181544 ENSG00000181544 HGNC:3583 FOXF1 gene FOXF1 Expert list;Expert Review Green;Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown anorectal malformation;VATER/VACTERL-like;VATER/VACTERL;Alveolar capillary dysplasia with misalignment of pulmonary veins 265380 26294094;19500772;23505205;30058937 False 3 0;0;0 1.14 False ENSG00000103241 ENSG00000103241 HGNC:3809 GLI3 gene GLI3 Expert list;Expert Review Green Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown anorectal malformation;Pallister-Hall syndrome 146510 9054938;10945658;1693785;21108399;29204208 False 3 100;0;0 1.14 False ENSG00000106571 ENSG00000106571 HGNC:4319 MED12 gene MED12 Expert list;Expert Review Green Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) anorectal malformation;Opitz-Kaveggia syndrome 305450;FG SYNDROME 1;FG SYNDROME 17334363;18691967 False 3 100;0;0 1.14 False ENSG00000184634 ENSG00000184634 HGNC:11957 MID1 gene MID1 Expert list;Expert Review Green Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Opitz GBBB syndrome, type I 300000;OPITZ G/BBB SYNDROME, X-LINKED 9354791;11030761;15121778;12833403;15558842 False 3 50;50;0 1.14 False ENSG00000101871 ENSG00000101871 HGNC:7095 MNX1 gene MNX1 Expert list;Expert Review Green Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown anorectal malformation;Currarino syndrome 176450 10631160;10749657;11528505;15216552;16906559 False 3 100;0;0 1.14 False ENSG00000130675 ENSG00000130675 HGNC:4979 RECQL4 gene RECQL4 Expert Review Green;Other Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Baller-Gerold syndrome, OMIM:218600;Rothmund-Thomson syndrome, type 2, OMIM:268400 15964893;28358413;24635570;22347665;1583650;19291770 False 3 0;0;0 1.14 False ENSG00000160957 ENSG00000160957 HGNC:9949 SALL1 gene SALL1 Expert Review Green;Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Townes-Brocks syndrome 1 107480 False 3 50;50;0 1.14 False ENSG00000103449 ENSG00000103449 HGNC:10524 ZIC3 gene ZIC3 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Other Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females anorectal malformation;VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS;VACTERL Association, X-linked 314390;VACTERLX 314390 26294094;14681828;20452998;21465648 False 3 100;0;0 1.14 False ENSG00000156925 ENSG00000156925 HGNC:12874 CASK gene CASK Expert list;Expert Review Amber Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females anorectal malformation;FG syndrome 4 300422 19200522;28139025;20029458;25886057;22452838 False 2 100;0;0 1.14 False ENSG00000147044 ENSG00000147044 HGNC:1497 CDX2 gene CDX2 Expert Review Amber;Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal persistent cloaca 19386267;27042391 False 2 0;0;100 1.14 False ENSG00000165556 ENSG00000165556 HGNC:1806 MYCN gene MYCN Expert list;Expert Review Amber Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown anorectal malformation;Feingold syndrome 1 164280 18470948;15821734 False 2 100;0;0 1.14 False ENSG00000134323 ENSG00000134323 HGNC:7559 MYH14 gene MYH14 Expert Review Amber;Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal ARM with recto-perineal fistulas 28191911 False 2 0;0;0 1.14 False ENSG00000105357 ENSG00000105357 HGNC:23212 AMOTL1 gene AMOTL1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000166025 ENSG00000166025 HGNC:17811 CDH18 gene CDH18 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000145526 ENSG00000145526 HGNC:1757 CTNND2 gene CTNND2 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000169862 ENSG00000169862 HGNC:2516 DESI2 gene DESI2 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000121644 ENSG00000121644 HGNC:24264 DKK1 gene DKK1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation and hypospadias 25319845 False 1 0;0;0 1.14 False ENSG00000107984 ENSG00000107984 HGNC:2891 DKK4 gene DKK4 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318;23108157 False 1 0;0;0 1.14 False ENSG00000104371 ENSG00000104371 HGNC:2894 EAF1 gene EAF1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000144597 ENSG00000144597 HGNC:20907 EBF2 gene EBF2 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown imperforate anus 29704291 False 1 0;0;100 1.14 False ENSG00000221818 ENSG00000221818 HGNC:19090 ECSIT gene ECSIT Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000130159 ENSG00000130159 HGNC:29548 EDNRB gene EDNRB Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 17618893 False 1 0;0;0 1.14 False ENSG00000136160 ENSG00000136160 HGNC:3180 FAM110B gene FAM110B Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000169122 ENSG00000169122 HGNC:28587 FNBP1 gene FNBP1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000187239 ENSG00000187239 HGNC:17069 HHIP gene HHIP Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 27082974 False 1 0;0;0 1.14 False ENSG00000164161 ENSG00000164161 HGNC:14866 HOXD13 gene HOXD13 Other Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VACTERL ASSOCIATION 19006232 False 1 0;0;0 1.14 False ENSG00000128714 ENSG00000128714 HGNC:5136 INTU gene INTU Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318;23108157 False 1 0;0;0 1.14 False ENSG00000164066 ENSG00000164066 HGNC:29239 JAK2 gene JAK2 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000096968 ENSG00000096968 HGNC:6192 LCA5 gene LCA5 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000135338 ENSG00000135338 HGNC:31923 LINC01081 gene LINC01081 Expert Review Red;NHS GMS Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alveolar capillary dysplasia with misalignment of pulmonary veins 27071622 False 1 50;0;50 1.14 False ENSG00000268754 ENSG00000268754 HGNC:49124 LINC01082 gene LINC01082 Expert Review Red;NHS GMS Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alveolar capillary dysplasia with misalignment of pulmonary veins 27071622 False 1 50;0;50 1.14 False ENSG00000269186 ENSG00000269186 HGNC:49125 MPRIP gene MPRIP Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000133030 ENSG00000133030 HGNC:30321 NLGN1 gene NLGN1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000169760 ENSG00000169760 HGNC:14291 PROK1 gene PROK1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000143125 ENSG00000143125 HGNC:18454 PTEN gene PTEN Other Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950 False 1 0;0;0 1.14 False ENSG00000171862 ENSG00000171862 HGNC:9588 RCSD1 gene RCSD1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000198771 ENSG00000198771 HGNC:28310 RFX6 gene RFX6 Expert list;Expert Review Red Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal anorectal malformation;Mitchell-Riley syndrome 615710;MARTINEZ-FRIAS SYNDROME 20148032;26264437 False 1 0;0;0 1.14 False ENSG00000185002 ENSG00000185002 HGNC:21478 SGCD gene SGCD Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000170624 ENSG00000170624 HGNC:10807 SIL1 gene SIL1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000120725 ENSG00000120725 HGNC:24624 SOX4 gene SOX4 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000124766 ENSG00000124766 HGNC:11200 SOX6 gene SOX6 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000110693 ENSG00000110693 HGNC:16421 STIM1 gene STIM1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000167323 ENSG00000167323 HGNC:11386 T gene T Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders sacral agenesis;anorectal atresia 10204846 False 1 0;0;0 1.14 False ENSG00000164458 ENSG00000164458 HGNC:11515 TBC1D4 gene TBC1D4 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000136111 ENSG00000136111 HGNC:19165 TLR1 gene TLR1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000174125 ENSG00000174125 HGNC:11847 TNNI3K gene TNNI3K Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000116783 ENSG00000116783 HGNC:19661 TP63 gene TP63 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders 23736768 False 1 0;0;0 1.14 False ENSG00000073282 ENSG00000073282 HGNC:15979 TTC7A gene TTC7A Expert list;Expert Review Red Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal anorectal malformation;Gastrointestinal defects and immunodeficiency syndrome 243150;INTESTINAL ATRESIA, MULTIPLE 23423984;24292712;23830146;25174867;25174867 False 1 100;0;0 1.14 False ENSG00000068724 ENSG00000068724 HGNC:19750 TTLL9 gene TTLL9 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000131044 ENSG00000131044 HGNC:16118 WDPCP gene WDPCP Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000143951 ENSG00000143951 HGNC:28027