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Intellectual disability

Gene: EIF2AK1

No list

EIF2AK1 (eukaryotic translation initiation factor 2 alpha kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000086232
EnsemblGeneIds (GRCh37): ENSG00000086232
OMIM: 613635, Gene2Phenotype
EIF2AK1 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single individual reported with de novo variant in this gene, one to watch.
Sources: Literature
Created: 20 Apr 2020, 2:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; white matter abnormalities

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Intellectual disability
  • white matter abnormalities
OMIM
613635
Clinvar variants
Variants in EIF2AK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EIF2AK1 was added gene: EIF2AK1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF2AK1 were set to 32197074 Phenotypes for gene: EIF2AK1 were set to Intellectual disability; white matter abnormalities Review for gene: EIF2AK1 was set to RED