Fetal anomalies
Gene: EEF1A2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low 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.

However, presentation is typically post-natal.
Created: 30 Jul 2020, 11:03 p.m. | Last Modified: 17 Jan 2022, 1:18 a.m.

Panel Version: 0.2331

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, 11:03 p.m.
Last Modified: 17 Jan 2022, 1:18 a.m.
Panel version: 0.2331

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Genomics England PanelApp
Genetic Health Queensland

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