EEF1B2

eukaryotic translation elongation factor 1 beta 2
OMIM: 600655, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EEF1B2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092
  • non-syndromic ID and seizures
  • Intellectual disability

Green EEF1B2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder MONDO:0700092
    • non-syndromic ID and seizures

    Green EEF1B2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • neurodevelopmental disorder MONDO:0700092
    • non-syndromic ID and seizures
    • Intellectual disability