Non-syndromic familial congenital anorectal malformations
Gene: CDX1

CDX1 (caudal type homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000113722
EnsemblGeneIds (GRCh37): ENSG00000113722
OMIM: 600746, Gene2Phenotype
CDX1 is in 2 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: More than 3 cases reported of CDX1 variants in patients with anorectal malformations. Also supporting functional studies.
Created: 16 Oct 2018, 12:40 p.m.

Tang et al 2016 (PMID: 27042391) show that CDX1 is expressed in the developing cloaca/hindgut in human embryos from weeks 4 to 9.
Created: 7 Oct 2018, 11:01 a.m.

Comment on phenotypes: Added phenotype from publication PMID:23329892
Created: 14 Aug 2018, 3:35 p.m.

CDX1 has been added to this panel due to the report of Zhang et al 2013 (PMID: 23329892). They report the analysis of CDX1 in 108 Chinese patients with anorectal malformations and 120 Chinese controls. Four heterozygous mutations in CDX1 gene were identified in ARMs patients (3.7%, 4/108), none found in controls. All samples analyzed in ARMs group exhibited down-regulated CDX1 mRNA expression in comparison to matched normal group, demonstrated significant differences statistically.
Created: 4 Aug 2018, 10:59 p.m.

Created: 4 Aug 2018, 10:59 p.m.

Panel version: 0.65

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Literature

Phenotypes

anorectal malformation

OMIM

600746

Clinvar variants

Variants in CDX1

Penetrance

None

Publications

Panels with this gene