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  3. CDX1
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Fetal anomalies

Gene: CDX1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Beth Young (West Midlands Regional Genetics Laboratory)

I don't know

Green for Non-syndromic familial congenital anorectal malformations and Paediatric disorders panels for association with anorectal malformation. Not on Australian FA Panel. Not OMIM morbid. Clinical presentation ranges from anal stenosis to ARMs with fistula to persistent cloaca. Would be detected prenatally? Zhang et al. had a pick up rate of 3.7% with postnatal phenotyping.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Anorectal malformations

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Anorectal malformations
OMIM
600746
Clinvar variants
Variants in CDX1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Anorectal malformations for gene: CDX1

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: CDX1 was added gene: CDX1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: CDX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted