Choanal atresia

Gene: EFTUD2

Green List (high evidence)

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.

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

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
Panels with this gene

History Filter Activity

11 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1, 11th August 2016

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type 610536

10 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for EFTUD2 were set to 22305528

10 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for EFTUD2 were set to 22305528; 610536

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

EFTUD2 was added to Choanal atresiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

13 Oct 2015, Gel status: 0

Added New Source

Jill Clayton-Smith (Manchester Centre For Genomic Medicine)

EFTUD2 was added to Choanal atresiapanel. Sources: Expert Review