EEFSEC

eukaryotic elongation factor, selenocysteine-tRNA specific
OMIM: 607695, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green EEFSEC in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.100

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM# 621102

Green EEFSEC in Mendeliome


Version 1.4847

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102

Green EEFSEC in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.414

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102

    Green EEFSEC in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.611

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102

    Green EEFSEC in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.777

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102

    Green EEFSEC in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.203

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102