1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. VMA21
STRs in panel
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Congenital muscular dystrophy and congenital 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 2 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.118

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

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

Phenotypes
vacuolar myopathy?

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.118

Helen Brittain (Genomics England Curator)

Comment when marking as ready: 23315026 45 cases from 14 families. Usually childhood onset of weakness, spans infancy. Appropriate for panel.
Created: 7 Mar 2017, 4:34 p.m.
Comment on list classification: sufficient evidence of causation
Created: 7 Mar 2017, 4:33 p.m.
Created: 7 Mar 2017, 4:33 p.m.

Copied from panel: Congenital myopathy v3.118

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
vacuolar myopathy?

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.118

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London South GLH
  • Expert Review Green
  • Expert Review
  • NHS GMS
Phenotypes
  • Myopathy, X-linked, with excessive autophagy, OMIM:310440
OMIM
300913
Clinvar variants
Variants in VMA21
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: VMA21 was added gene: VMA21 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review,Expert Review Green,London South GLH Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: VMA21 were set to 23315026 Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy, OMIM:310440 Penetrance for gene: VMA21 were set to Complete