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Intellectual disability

Gene: EIF2A

No list

EIF2A (eukaryotic translation initiation factor 2A)
EnsemblGeneIds (GRCh38): ENSG00000144895
EnsemblGeneIds (GRCh37): ENSG00000144895
OMIM: 609234, Gene2Phenotype
EIF2A is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated families reported, no functional data.
Sources: Expert list
Created: 2 Feb 2020, 3:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; epilepsy

Publications

Details

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

History Filter Activity

2 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EIF2A was added gene: EIF2A was added to Intellectual disability. Sources: Expert list 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; epilepsy Review for gene: EIF2A was set to AMBER