Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: VMA21Comment on list classification: Promoted to Green due to consensus from reviewers and submitted gene lists from GLHs.Created: 28 Nov 2019, 3:24 p.m. | Last Modified: 28 Nov 2019, 3:24 p.m.
Panel Version: 1.101
XMEA. Differential diagnosis with LGMD (proximal weakness and raised CK) particularly in milder adult onset formsCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-Linked myopathy with excessive autophagy
Publications
Gene: vma21 has been classified as Green List (High Evidence).
Source NHS GMS was added to VMA21.
Source Yorkshire and North East GLH was added to VMA21.
Phenotypes for gene: VMA21 were changed from Myopathy, X-linked, with excessive autophagy, 310440 to Myopathy, X-linked, with excessive autophagy, 310440; X-Linked myopathy with excessive autophagy
Mode of inheritance for gene VMA21 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21 Publications for gene VMA21 were changed from to 23315026; 19379691
gene: VMA21 was added gene: VMA21 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: VMA21 was set to