Hereditary ataxia

Gene: EEF2

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

• 23001565
• 33355653