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Genetic epilepsy syndromes

Gene: EIF2A

Red List (low evidence)

EIF2A (eukaryotic translation initiation factor 2A)
EnsemblGeneIds (GRCh38): ENSG00000144895
EnsemblGeneIds (GRCh37): ENSG00000144895
OMIM: 609234, Gene2Phenotype
EIF2A is in 2 panels

1 review

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

Gene is not associated with any phenotype in OMIM or G2P.

PMID: 31130284 - Distinct homozygous variants were identified in two cases presenting an overlapping phenotype of ID and epilepsy (intractable in one patient), as part of a large screening study of a highly consanguineous Saudi population. However, no segregation or follow-up functional studies were conducted to validate the variants, and there is currently no other publication data supporting this candidate gene and the relationship with epilepsy.
Sources: Literature
Created: 24 Jul 2020, 3:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; Seizures; ASD

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Intellectual disability
  • Seizures
  • ASD
OMIM
609234
Clinvar variants
Variants in EIF2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: EIF2A was added gene: EIF2A was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2A were set to 31130284 Phenotypes for gene: EIF2A were set to Intellectual disability; Seizures; ASD Review for gene: EIF2A was set to RED