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Early onset or syndromic epilepsy

Gene: EIF4A2

Amber List (moderate evidence)

EIF4A2 (eukaryotic translation initiation factor 4A2)
EnsemblGeneIds (GRCh38): ENSG00000156976
EnsemblGeneIds (GRCh37): ENSG00000156976
OMIM: 601102, Gene2Phenotype
EIF4A2 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rating Green at the major review.
Created: 20 Jun 2023, 4:24 p.m. | Last Modified: 20 Jun 2023, 4:24 p.m.
Panel Version: 4.52
EIF4A2 has not been associated with a phenotype in OMIM, Gen2Phen or Mondo at the time of reporting. PMID: 36528028 reports the findings of an international collaboration through Matchmaker Exchange, where EIF4A2 variants are found in cases with neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. A total of 15 EIF4A2 variants have been reported in PMID: 36528028, with 12 variants occurring as de novo monoallelic in 12 individuals and 3 as biallelic in two unrelated cases (one as homozygote and the other as compound heterozygous). Severe intellectual was seen in 6/10 unrelated cases where an assessment was made, epilepsy was evident in 10/14 unrelated cases and 13/14 cases had hyptonia. Functional studies were also presented and it would appear that both loss and gain functions maybe associated with EIF4A2 variants.
Sources: Literature
Created: 20 Jun 2023, 4:22 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Neurodevelopmental disorder



Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Expert Review Amber
  • Literature
  • Neurodevelopmental disorder
Clinvar variants
Variants in EIF4A2
Panels with this gene

History Filter Activity

20 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: eif4a2 has been classified as Amber List (Moderate Evidence).

20 Jun 2023, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: EIF4A2 was added gene: EIF4A2 was added to Early onset or syndromic epilepsy. Sources: Literature Q3_23_promote_green tags were added to gene: EIF4A2. Mode of inheritance for gene: EIF4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EIF4A2 were set to 36528028 Phenotypes for gene: EIF4A2 were set to Neurodevelopmental disorder Review for gene: EIF4A2 was set to GREEN