VACTERL-like phenotypes
Gene: CDX2Comment 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
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
Publications for gene: CDX2 were set to PMID: 34671974
Gene: cdx2 has been classified as Green List (High Evidence).
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