Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: VMA21

Green List (high evidence)

VMA21 (VMA21, vacuolar ATPase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000160131
EnsemblGeneIds (GRCh37): ENSG00000160131
OMIM: 300913, Gene2Phenotype
VMA21 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment 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

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

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 Review
Created: 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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, X-linked, with excessive autophagy (MIM#310440)
Tags
deep intronic
OMIM
300913
Clinvar variants
Variants in VMA21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: vma21 has been classified as Green List (High Evidence).

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vma21 has been classified as Amber List (Moderate Evidence).

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vma21 has been classified as Amber List (Moderate Evidence).

29 Jun 2020, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deep intronic tag was added to gene: VMA21.

28 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

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