Choanal atresia
Gene: EFTUD2

EFTUD2 (elongation factor Tu GTP binding domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000108883
EnsemblGeneIds (GRCh37): ENSG00000108883
OMIM: 603892, Gene2Phenotype
EFTUD2 is in 12 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 10 Aug 2016, 1:42 p.m.

Created: 10 Aug 2016, 1:42 p.m.

Panel version: 0.12

Jill Clayton-Smith (Manchester Centre For Genomic Medicine)

Green List (high evidence)

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

610536

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Oct 2015, 11:48 a.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Mandibulofacial dysostosis, Guion-Almeida type 610536

OMIM

603892

Clinvar variants

Variants in EFTUD2

Penetrance

Complete

Publications

22305528

Panels with this gene