Skeletal dysplasia
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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Dysostoses with predominant craniofacial involvement gp of SD. Many cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type 610536

Publications

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: EFTUD2; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 7 Jul 2016, 8:12 a.m.

Comment on list classification: Tier 3 gene for skeletal dysplasia (Ana Beleza)
Created: 7 Jul 2016, 8:10 a.m.

Created: 7 Jul 2016, 8:10 a.m.

Panel version: 0.109

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type 610536

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

Created: 17 Jun 2016, 8:03 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Mandibulofacial dysostosis, Guion-Almeida type 610536

OMIM

603892

Clinvar variants

Variants in EFTUD2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 for gene: EFTUD2 Publications for gene EFTUD2 were changed from 19334086; 16760738; 22305528 to 16760738; 19334086; 22305528

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to EFTUD2. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4