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Limb disorders

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)

Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported in cases of Mandibulofacial dysostosis, Guion-Almeida type 610536
Created: 5 Apr 2018, 1:31 p.m.
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: 0.45

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: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
OMIM
603892
Clinvar variants
Variants in EFTUD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 3

5 Apr 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for EFTUD2 were set to 22305528

5 Apr 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for EFTUD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to EFTUD2. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EFTUD2 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

EFTUD2 was created by Ellen McDonagh