EEF2

eukaryotic translation elongation factor 2
OMIM: 130610, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber EEF2 in Hydrocephalus


Version 2.105
Latest signed off version: v2.3 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • hydrocephaly
Tags
  • Q2_21_rating

Amber EEF2 in Ataxia and cerebellar anomalies - narrow panel


Version 2.190
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 26 OMIM:609306

    Amber EEF2 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.223

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 26 OMIM:609306

    Amber EEF2 in Hereditary ataxia - adult onset


    Version 2.71
    Latest signed off version: v2.13 (6 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 26 OMIM:609306