1. Genes and Genomic Entities
  2. EIF2AK1

EIF2AK1

eukaryotic translation initiation factor 2 alpha kinase 1
OMIM: 613635, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red EIF2AK1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • EIF2AK1-associated Neurodevelopmental Syndrome
    Red EIF2AK1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Intellectual disability
    • white matter abnormalities