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 CDX2 gene CDX2 Expert Review Green;Literature VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple congenital anomalies 29177441;32058622;34671974 False 3 100;0;0 1.35 False ENSG00000165556 ENSG00000165556 HGNC:1806 CHD4 gene CHD4 Expert Review Green;Literature VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease;Sifrim-Hitz-Weiss syndrome 617159 False 3 100;0;0 1.35 True Other - please provide details in the comments ENSG00000111642 ENSG00000111642 HGNC:1919 CHD7 gene CHD7 Expert Review Green;Literature VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome False 3 100;0;0 1.35 True ENSG00000171316 ENSG00000171316 HGNC:20626 EFTUD2 gene EFTUD2 Eligibility statement prior genetic testing;Expert Review Green VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted microcephaly, facial asymmetry, inner ear anomalies False 3 100;0;0 1.35 True ENSG00000108883 ENSG00000108883 HGNC:30858 FANCB gene FANCB Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) VACTERL Association with Hydrocephalus False 3 100;0;0 1.35 True ENSG00000181544 ENSG00000181544 HGNC:3583 FGF10 gene FGF10 Emory Genetics Laboratory;Expert Review Green VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 100;0;0 1.35 True ENSG00000070193 ENSG00000070193 HGNC:3666 HAAO gene HAAO Expert Review Green;Literature VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Multiple congenital malformations; VACTERL-like phenotype 27604308;17334708;28792876 False 3 0;0;0 1.35 False ENSG00000162882 ENSG00000162882 HGNC:4796 HOXA13 gene HOXA13 Expert Review;Expert Review Green VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 140000 9020844 False 3 100;0;0 1.35 True ENSG00000106031 ENSG00000106031 HGNC:5102 KYNU gene KYNU Expert Review Green;Literature VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes 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 1.35 False ENSG00000115919 ENSG00000115919 HGNC:6469 MYCN gene MYCN Emory Genetics Laboratory;Expert Review Green VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 100;0;0 1.35 True ENSG00000134323 ENSG00000134323 HGNC:7559 PLVAP gene PLVAP Expert Review Green;Literature VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Diarrhoea 10, protein-losing enteropathy type, OMIM:618183 29875123;29661969;26207260;31215290 False 3 100;0;0 1.35 False ENSG00000130300 ENSG00000130300 HGNC:13635 PUF60 gene PUF60 Expert Review;Expert Review Green VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verheij syndrome, 615583;VRJS;Chromosome 8q24.3 deletion syndrome;PUF60 syndrome 28327570;27804958;24140112 False 3 100;0;0 1.35 False ENSG00000179950 ENSG00000179950 HGNC:17042 SALL1 gene SALL1 Emory Genetics Laboratory;Expert Review Green VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 100;0;0 1.35 True ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 Emory Genetics Laboratory;Expert Review Green VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 100;0;0 1.35 True ENSG00000101115 ENSG00000101115 HGNC:15924 TBX3 gene TBX3 Emory Genetics Laboratory;Expert Review Green VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 100;0;0 1.35 True ENSG00000135111 ENSG00000135111 HGNC:11602 TBX5 gene TBX5 Emory Genetics Laboratory;Expert Review Green VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 100;0;0 1.35 True ENSG00000089225 ENSG00000089225 HGNC:11604 TRAP1 gene TRAP1 Expert Review Green;Literature VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal VACTERL; CAKUT PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. False 3 100;0;0 1.35 True ENSG00000126602 ENSG00000126602 HGNC:16264 WBP11 gene WBP11 Expert Review Green;Literature VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 33276377 False 3 100;0;0 1.35 False ENSG00000084463 ENSG00000084463 HGNC:16461 ZIC3 gene ZIC3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) VACTERL Association, X-linked;Heterotaxy, visceral, 1, X-linked 306955 PMID: 21465648 False 3 0;0;100 1.35 True ENSG00000156925 ENSG00000156925 HGNC:12874 KIAA1217 gene KIAA1217 Expert Review Amber;Literature VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal vertebral malformations 32369272 False 2 0;100;0 1.35 False ENSG00000120549 ENSG00000120549 HGNC:25428 MIR17HG gene MIR17HG Expert Review Amber;Literature VACTERL-like phenotypes Limb disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Feingold syndrome;Feingold syndrome 2, 614326;FS2;Brachydactyly with short stature and microcephaly 21892160;19344873;25391829;26360630 False 2 50;50;0 1.35 True ENSG00000215417 ENSG00000215417 HGNC:23564