VACTERL-like phenotypes

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

Muriel Holder (Clinical Genetics, Guy's Hospital)

Green List (high evidence)

Ellen Thomas (Genomics England Curator)

Comment on list classification: Robustly associated with overlapping phenotype.
Created: 27 May 2016, 10:10 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • microcephaly, facial asymmetry, inner ear anomalies
OMIM
603892
Clinvar variants
Variants in EFTUD2
Penetrance
Complete
Panels with this gene

History Filter Activity

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

27 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for EFTUD2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EFTUD2 was added to VACTERL-like phenotypepanel. Sources: Eligibility statement prior genetic testing