Paediatric disorders - additional genes

Gene: CDX1

Green List (high evidence)

CDX1 (caudal type homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000113722
EnsemblGeneIds (GRCh37): ENSG00000113722
OMIM: 600746, Gene2Phenotype
CDX1 is in 3 panels

2 reviews

Rebecca Foulger (Genomics England curator)

CDX1 is Green on the Non-syndromic familial congenital anorectal malformations panel version 0.65. CDX1 was added to this 'Paediatric disorders - additional genes panel' for tracking, in case the 'Non-syndromic familial congenital anorectal malformations' panel is removed as a component panel from the 'Paediatric disorders' Superpanel, because CDX1 does not feature on any of the other component panels.
Created: 17 Jun 2019, 8:22 p.m.

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.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Expert Review Green
  • Expert Review Green
  • Literature
  • anorectal malformation
Clinvar variants
Variants in CDX1
Panels with this gene

History Filter Activity

17 Jun 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CDX1 was added gene: CDX1 was added to Paediatric disorders - additional genes. Sources: Expert Review Green Mode of inheritance for gene: CDX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDX1 were set to 23329892; 27042391 Phenotypes for gene: CDX1 were set to anorectal malformation