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Prepair 1000+

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

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane.

VMA21 mutations have mainly been identified in introns. An allelic disease of XMEA, named congenital autophagic vacuolar myopathy (CAVM), has also been described in a few patients and has been associated with a severe phenotype (death or need of intubation–ventilation and nasogastric feeding). This disease is caused by a specific intronic mutation (c.164-6T>G) (PMID: 36553512).

The severity of diseases (XMEA/CAVM) seems to be mainly related to the residual level of VMA21 mRNA correctly spliced, which seems itself to be related to the mutation in VMA21 (PMID: 36553512).
Created: 21 Jan 2025, 2:37 a.m. | Last Modified: 21 Jan 2025, 2:37 a.m.
Panel Version: 1.1257

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Myopathy, X-linked, with excessive autophagy MIM#310440

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, X-linked, with excessive autophagy MIM#310440
OMIM
300913
Clinvar variants
Variants in VMA21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VMA21 were changed from Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive to Myopathy, X-linked, with excessive autophagy MIM#310440

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VMA21 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VMA21 was added gene: VMA21 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive