Hereditary ataxia

Gene: EEF2

Amber List (moderate evidence)

EEF2 (eukaryotic translation elongation factor 2)
EnsemblGeneIds (GRCh38): ENSG00000167658
EnsemblGeneIds (GRCh37): ENSG00000167658
OMIM: 130610, Gene2Phenotype
EEF2 is in 4 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting this gene from red to amber on advice of Genomics England clinical team. Amber rating selected pending further cases and delineation of the phenotype
Created: 21 Apr 2021, 3:53 p.m. | Last Modified: 21 Apr 2021, 3:53 p.m.
Panel Version: 1.216
Waiting on opinion of Genomics England clinical team as to rating and additional panels for this gene.
Created: 4 Mar 2021, 7:13 p.m. | Last Modified: 4 Mar 2021, 7:13 p.m.
Panel Version: 1.212
Provisionally associated with ?Spinocerebellar ataxia 26 #609306 (AD) in OMIM based on Hekman et al 2012 case.

PMID: 23001565 - Hekman et al 2012 - report a six-generation kindred of Norwegian ancestry with a late-onset pure cerebellar ataxia in which a heterozygous P596H substitution in eEF2 was found to segregate with the disease phenotype in 24 individuals and two currently asymptomatic individuals. Functional studies in yeast showed that the variant (P580H in the EFT2 gene in yeast) affected translational fidelity.

PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly.
Sources: Literature
Created: 4 Mar 2021, 6:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 26 OMIM:609306

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spinocerebellar ataxia 26 OMIM:609306
OMIM
130610
Clinvar variants
Variants in EEF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: eef2 has been classified as Amber List (Moderate Evidence).

4 Mar 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: EEF2 was added gene: EEF2 was added to Hereditary ataxia. Sources: Literature Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EEF2 were set to 23001565; 33355653 Phenotypes for gene: EEF2 were set to Spinocerebellar ataxia 26 OMIM:609306 Review for gene: EEF2 was set to AMBER