1. Genes and Genomic Entities
  2. VMA21

VMA21

VMA21, vacuolar ATPase assembly factor
OMIM: 300913, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green VMA21 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Myopathy, X-linked, with excessive autophagy, OMIM:310440
    Green VMA21 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


    Level 2: Neurology
    Version 5.39
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Myopathy, X-linked, with excessive autophagy, 310440
    • X-Linked myopathy with excessive autophagy