VACTERL-like phenotypes
Gene: CDX2EnsemblGeneIds (GRCh38): ENSG00000165556
EnsemblGeneIds (GRCh37): ENSG00000165556
OMIM: 600297, Gene2Phenotype
CDX2 is in 4 panels
2 reviews
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 as the clinical phenotype in some patients shows overlap with VACTERL.Created: 3 May 2023, 10:09 a.m. | Last Modified: 3 May 2023, 10:09 a.m.
Panel Version: 1.33
Dmitrijs Rots (Children's Clinical University Hospital)
Multiple patients reported and summarized in PMID: 34671974 with multiple congenital anomalies, including patients with VACTERL-like phenotype.
Sources: LiteratureCreated: 28 Jan 2022, 8:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multiple congenital anomalies
Publications
- PMID: 34671974
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Multiple congenital anomalies
- OMIM
- 600297
- Clinvar variants
- Variants in CDX2
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CDX2 were set to PMID: 34671974
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cdx2 has been classified as Green List (High Evidence).
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 VACTERL-like phenotypes. 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