Choanal atresia
Gene: EFTUD2Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 10 Aug 2016, 1:42 p.m.
Convincing de novo mutations published by several different groups and identified in WES studies. Choanal atresia present in a significant number of cases, but not all. Can, however, be a good clue to the phenotype.Created: 13 Oct 2015, 11:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
mandibuolfacial dysostosis with microcephaly; mandibulofacial dysostosis Guion-Almeida type
Publications
Variants in this GENE are reported as part of current diagnostic practice
Promoted to version 1, 11th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type 610536
Publications for EFTUD2 were set to 22305528
Publications for EFTUD2 were set to 22305528; 610536
This gene has been classified as Green List (High Evidence).
EFTUD2 was added to Choanal atresiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
EFTUD2 was added to Choanal atresiapanel. Sources: Expert Review