VARS

valyl-tRNA synthetase
OMIM: 192150, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green VARS in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 617802
    Tags
    • new-gene-name
    Green VARS in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    • Expert Review
    Phenotypes
    • NDMSCA
    • Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802
    • # 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
    Tags
    • new-gene-name
    Green VARS in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802
    Tags
    • new-gene-name