Genetic Epilepsy
Gene: EEF1A2

EEF1A2 (eukaryotic translation elongation factor 1 alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000101210
EnsemblGeneIds (GRCh37): ENSG00000101210
OMIM: 602959, Gene2Phenotype
EEF1A2 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 32160274 - Davies et al 2020 - several reports of de novo missense mutations in EEF1A2 associated with neurodevelopmental disorders but no clear loss of function mutations. They created mice with a missense mutation in EEF1A2 (D252H) in both heterozygous and homozygous state and EEF1A2 null mutant mice and analysed using behavioural and motor phenotyping alongside molecular modelling and analysis of binding partners. They found the D252H homozygous mice were more severely affected than null homozygotes on the same genetic background. The results suggest that the D252H mutation results in a gain of function.
Created: 30 Jul 2020, 11 p.m. | Last Modified: 30 Jul 2020, 11 p.m.

Panel Version: 0.762

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 38, MIM# 616393; MONDO:0014617; Developmental and epileptic encephalopathy 33, MIM# 616409; MONDO:0014625

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 30 Jul 2020, 11 p.m.
Last Modified: 30 Jul 2020, 11 p.m.
Panel version: 0.1094

Eleanor Williams (Genomics England)

PMID: 32160274 - Davies et al 2020 - several reports of de novo missense mutations in EEF1A2 associated with neurodevelopmental disorders but no clear loss of function mutations. They created mice with a missense mutation in EEF1A2 (D252H) in both heterozygous and homozygous state and EEF1A2 null mutant mice and analysed using behavioural and motor phenotyping alongside molecular modelling and analysis of binding partners. They found the D252H homozygous mice were more severely affected than null homozygotes on the same genetic background. The results suggest that the D252H mutation results in a gain of function.
Created: 30 Jul 2020, 10:32 a.m. | Last Modified: 30 Jul 2020, 10:32 a.m.

Panel Version: 0.3590

Publications

32160274

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 30 Jul 2020, 10:32 a.m.
Last Modified: 30 Jul 2020, 10:32 a.m.
Panel version: Imported from Mendeliome panel version 0.3590

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Mental retardation, autosomal dominant 38, MIM# 616393
MONDO:0014617
Developmental and epileptic encephalopathy 33, MIM# 616409
MONDO:0014625

OMIM

602959

Clinvar variants

Variants in EEF1A2

Penetrance

None

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene