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Ataxia - adult onset

Gene: EEF2

Red List (low evidence)
EEF2 (eukaryotic translation elongation factor 2)
EnsemblGeneIds (GRCh38): ENSG00000167658
EnsemblGeneIds (GRCh37): ENSG00000167658
OMIM: 130610, Gene2Phenotype
EEF2 is in 7 panels

2 reviews

Eleanor Williams (Genomics England)

Green List (high evidence)

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.
Created: 4 Mar 2021, 7:15 p.m. | Last Modified: 4 Mar 2021, 7:15 p.m.
Panel Version: 0.6552

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

Phenotypes
Spinocerebellar ataxia 26 MIM#609306

Publications

Created: 4 Mar 2021, 7:15 p.m.
Last Modified: 4 Mar 2021, 7:15 p.m.
Panel version: Imported from Mendeliome panel version 0.6552

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Single family reported.
Created: 27 Dec 2019, 4:57 a.m. | Last Modified: 27 Dec 2019, 4:57 a.m.
Panel Version: 0.67

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 26

Publications

Created: 27 Dec 2019, 4:57 a.m.
Last Modified: 27 Dec 2019, 4:57 a.m.
Panel version: Imported from Ataxia_VCGS panel version 0.67

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • GeneReviews
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Spinocerebellar ataxia 26
OMIM
130610
Clinvar variants
Variants in EEF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eef2 has been classified as Red List (Low Evidence).

19 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: EEF2 was added gene: EEF2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EEF2 were set to 15732118; 23001565 Phenotypes for gene: EEF2 were set to ?Spinocerebellar ataxia 26