Non-syndromic familial congenital anorectal malformations

Gene: CDX2

Amber List (moderate evidence)

CDX2 (caudal type homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000165556
EnsemblGeneIds (GRCh37): ENSG00000165556
OMIM: 600297, Gene2Phenotype
CDX2 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

Comment on list classification: 2 cases (conference abstract) plus functional evidence so rating Amber.
Created: 1 Nov 2018, 3:03 p.m.
Gao et al 2009 (PMID: 19386267) show that mice with Cdx2 ablated conditionally in the developing gut display severe hindgut abnormalities with a failure of colon development and a complete terminal blockage.

Tang et al 2016 (PMID: 27042391) show that CDX2 is expressed in the developing cloaca/hindgut in human embryos from weeks 4 to 9.
Created: 7 Oct 2018, 10:59 a.m.
Variants in CDX2 are reported to be associated with persistent cloaca in an abstract from Hsu et al 2018 from the Curating the Clinical Genome 2018 conference. From whole exome sequencing of 20 patients with perisitent cloaca and their unaffected parents novel p.Cys132* and p.Arg237His de novo CDX2 variants were identified in two unrelated patients. Not frequently found in ExAC, and the p.Arg237His variant is predicted to be in a DNA binding domain. Both variants altered the expression of CYP26A1, a direct CDX2 target encoding the major retinoic acid (RA)-degrading enzyme.
Created: 23 Aug 2018, 3:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
persistent cloaca

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • persistent cloaca
Tags
watchlist
OMIM
600297
Clinvar variants
Variants in CDX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Variants in CDX2 are reported

8 Nov 2018, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: CDX2.

1 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cdx2 has been classified as Amber List (Moderate Evidence).

1 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cdx2 has been classified as Amber List (Moderate Evidence).

7 Oct 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CDX2 were set to

23 Aug 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

CDX2 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature

23 Aug 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

CDX2 was created by Eleanor Williams