Genomics England
GMS Panels
Panels
Genes and Entities

VMA21

VMA21, vacuolar ATPase assembly factor
OMIM: 300913
PanelMode of inheritanceDetails
2 panels
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Myopathy, X-linked, with excessive autophagy, OMIM:310440
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.33
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Myopathy, X-linked, with excessive autophagy, 310440, X-Linked myopathy with excessive autophagy