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Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: VMA21; Recommended initial gene rating: Green List (high evidence); Phenotypes: Myopathy, X-linked, with excessive autophagy, 310440 (3); Mode of inheritance: X-linked recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, X-linked, with excessive autophagy, 310440
OMIM
300913
Clinvar variants
Variants in VMA21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene VMA21 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21