Congenital myopathy
Gene: VMA21
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
vacuolar myopathy?
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: 23315026 45 cases from 14 families. Usually childhood onset of weakness, spans infancy. Appropriate for panel.Created: 7 Mar 2017, 4:34 p.m.
Comment on list classification: sufficient evidence of causationCreated: 7 Mar 2017, 4:33 p.m.
Phenotypes
vacuolar myopathy?
Phenotypes for gene: VMA21 were changed from vacuolar myopathy? to Myopathy, X-linked, with excessive autophagy, OMIM:310440
Source NHS GMS was added to VMA21.
Source London South GLH was added to VMA21. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for VMA21 were set to 23315026
Mode of inheritance for VMA21 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
VMA21 was created by anna.sarkozy
VMA21 was added to Congenital myopathypanel. Sources: Expert Review