JAG2

jagged 2
OMIM: 602570, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green JAG2 in Congenital muscular dystrophy


Level 2: Neurology
Version 7.27
Latest signed off version: v7.26 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566
    Green JAG2 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


    Level 2: Neurology
    Version 6.18
    Latest signed off version: v6.17 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 27, OMIM:619566
    Green JAG2 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JAG2-related muscular dystrophy
    Red JAG2 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.42
    Latest signed off version: v6.34 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert