Angelman Rett like syndromes
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)

Green List (high evidence)

Epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features, microcephaly reported. Diagnosis made in Rett-like patient, PMID 31893083.

Both LoF and GoF postulated. More than 20 unrelated families.
Created: 6 Jun 2021, 2:41 a.m. | Last Modified: 6 Jun 2021, 2:44 a.m.

Panel Version: 0.55

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

Created: 6 Jun 2021, 2:41 a.m.
Last Modified: 6 Jun 2021, 2:44 a.m.
Panel version: 0.52

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

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

Panels with this gene