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Mendeliome

Gene: EIF2A

Amber List (moderate evidence)

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

1 review

Alison Yeung (Victorian Clinical Genetics Services)

I don't know

reported in two unrelated families
Sources: Literature
Created: 20 Jan 2020, 12:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability, epilepsy

Publications

Details

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

History Filter Activity

20 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: eif2a has been classified as Amber List (Moderate Evidence).

20 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: eif2a has been classified as Amber List (Moderate Evidence).

20 Jan 2020, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: EIF2A was added gene: EIF2A was added to Mendeliome. Sources: Literature Mode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2A were set to PMID: 31130284 Phenotypes for gene: EIF2A were set to Intellectual disability, epilepsy Review for gene: EIF2A was set to AMBER