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Intellectual disability

Gene: EIF2AK2

No list

EIF2AK2 (eukaryotic translation initiation factor 2 alpha kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000055332
EnsemblGeneIds (GRCh37): ENSG00000055332
OMIM: 176871, Gene2Phenotype
EIF2AK2 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Eight individuals with de novo variants and complex neurodevelopmental phenotype.
Sources: Literature
Created: 20 Apr 2020, 2:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Intellectual disability
  • white matter abnormalities
  • ataxia
  • regression with febrile illness
OMIM
176871
Clinvar variants
Variants in EIF2AK2
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: EIF2AK2 was added gene: EIF2AK2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF2AK2 were set to 32197074 Phenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness Review for gene: EIF2AK2 was set to GREEN gene: EIF2AK2 was marked as current diagnostic