Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: VMA21Comment when marking as ready: Phenotypic overlap with LGMD.Created: 29 Jun 2020, 10:04 a.m. | Last Modified: 29 Jun 2020, 10:04 a.m.
Panel Version: 0.19
Childhood onset muscle disease, primarily affecting proximal muscles and elevated CK. No other muscle group involvement. Characterize by progressive muscle weakness with a limb-girdle pattern (PMID: 25809233). Differential diagnosis with LGMD (PanelApp UK)
Intronic variants in multiple families. Onset in childhood
PMID: 25809233: Different splice site variants reported in 2 families, onset in childhood.
PMID: 23315026: 5 splice region and 1 missense reported in 14 families with multiple affected. Quantitative RT-PCR from patient fibroblasts demonstrated reduction in VMA21 mRNA.
Sources: Expert Review
Sources: Expert ReviewCreated: 28 Jun 2020, 10:33 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Myopathy, X-linked, with excessive autophagy (MIM#310440)
Publications
Gene: vma21 has been classified as Green List (High Evidence).
Gene: vma21 has been classified as Amber List (Moderate Evidence).
Gene: vma21 has been classified as Amber List (Moderate Evidence).
Tag deep intronic tag was added to gene: VMA21.
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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: VMA21 were set to 27916343; 25809233; 23315026 Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy (MIM#310440) Review for gene: VMA21 was set to AMBER