1. Panels
  2. Fetal anomalies
  3. CDX2
Genes in panel
Prev Next

Fetal anomalies

Gene: CDX2

Green List (high evidence)
CDX2 (caudal type homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000165556
EnsemblGeneIds (GRCh37): ENSG00000165556
OMIM: 600297, Gene2Phenotype
CDX2 is in 4 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Removed the Q2_23_promote_green tag as has now been promoted to green.
Created: 17 Oct 2023, 2:06 p.m. | Last Modified: 17 Oct 2023, 2:06 p.m.
Panel Version: 3.111
This gene has no phenotype in OMIM so checked that the publication PMID: 34671974 mentions the same gene name. It does. Adding the gene-checked tag.
Created: 16 Oct 2023, 4:32 p.m. | Last Modified: 16 Oct 2023, 4:32 p.m.
Panel Version: 3.111
Created: 16 Oct 2023, 4:32 p.m.
Last Modified: 16 Oct 2023, 4:32 p.m.
Panel version: 3.111

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). At least 8 unrelated families reported with de novo or inherited pathogenic variants in CDX2. Phenotypic findings comprise a broad spectrum of caudal abnormalities including defects of the uro‐recto‐genital tract, vertebrae, and the limbs. Cdx2 mutant mice show a variable phenotype that is comparable to that of patients (including imperforate anus, sirenomelia, posterior vertebral truncations, and bladder anomalies).

Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 3 May 2023, 10:08 a.m. | Last Modified: 3 May 2023, 10:08 a.m.
Panel Version: 3.5
Created: 3 May 2023, 10:08 a.m.
Last Modified: 3 May 2023, 10:08 a.m.
Panel version: 3.5

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Multiple patients reported and summarized in PMID: 34671974 with multiple congenital anomalies, including patients with VACTERL-like phenotype.
Sources: Literature
Created: 28 Jan 2022, 8:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multiple congenital anomalies

Publications

Created: 28 Jan 2022, 8:41 a.m.

Panel version: 1.826

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Multiple congenital anomalies
Tags
gene-checked
OMIM
600297
Clinvar variants
Variants in CDX2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

17 Oct 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: CDX2.

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: CDX2.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to CDX2. Source NHS GMS was added to CDX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CDX2 were set to PMID: 34671974

3 May 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

3 May 2023, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: CDX2.

28 Jan 2022, Gel status: 0

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

Dmitrijs Rots (Children's Clinical University Hospital)

gene: CDX2 was added gene: CDX2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDX2 were set to PMID: 34671974 Phenotypes for gene: CDX2 were set to Multiple congenital anomalies Penetrance for gene: CDX2 were set to unknown Review for gene: CDX2 was set to GREEN