Limb girdle muscular dystrophy

Gene: VMA21

Green List (high evidence)

VMA21 (VMA21, vacuolar ATPase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000160131
EnsemblGeneIds (GRCh37): ENSG00000160131
OMIM: 300913, Gene2Phenotype
VMA21 is in 3 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

XMEA. Differential diagnosis with LGMD (proximal weakness and raised CK) particularly in milder adult onset forms
Created: 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

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

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

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

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myopathy, X-linked, with excessive autophagy, 310440
  • X-Linked myopathy with excessive autophagy
OMIM
300913
Clinvar variants
Variants in VMA21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VMA21.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to VMA21.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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