VARS

valyl-tRNA synthetase
OMIM: 192150, Gene2Phenotype

2 panels

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


Level 2: Neurology
Version 8.125
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • 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


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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