Congenital Heart Defect

Gene: EFTUD2

Green List (high evidence)

Established gene-disease associated with CHD as a feature of the condition.

PMID: 23879989
Two siblings with CHD phenotypes and new splice variant c.994+1G>C in both children and mildly affected mother.
Another individual from an unrelated family with VSD as a phenotype and a de novo heterozygous mutation c.594T>G, p. Tyr198*.

PMID: 32315467
>5 unrelated individuals with a diagnosis of mandibulofacial dysostosis and presence of CHD as a phenotype. They were found to have mutations in EFTUD2 either through an autosomal dominant inheritance or were de novo.

Created: 25 Oct 2023, 6:42 a.m. | Last Modified: 25 Oct 2023, 6:42 a.m.

Panel Version: 0.300

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type (MIM#610536; MONDO:0012516)

Publications

• 23879989
• 32315467