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 4 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.

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

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.

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
vacuolar myopathy?

Details

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

History Filter Activity

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VMA21.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to VMA21. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Mar 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for VMA21 were set to 23315026

7 Mar 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for VMA21 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Mar 2017, Gel status: 0

Added New Source

Anna Sarkozy (Great Ormond Street Hospital)

VMA21 was added to Congenital myopathypanel. Sources: Expert Review

6 Mar 2017, Gel status: 0

Created

Anna Sarkozy (Great Ormond Street Hospital)

VMA21 was created by anna.sarkozy