EEFSEC

eukaryotic elongation factor, selenocysteine-tRNA specific
OMIM: 607695, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green EEFSEC in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.78

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related

Green EEFSEC in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related

Green EEFSEC in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related

    Green EEFSEC in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related

    Green EEFSEC in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related

    Green EEFSEC in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.30

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related