Congenital Disorders of Glycosylation

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 15 families reported. Note many of the variants are intronic. Gene product participates in the assembly of the V-ATPase.
Sources: Expert list
Created: 28 Nov 2020, 4:31 a.m.

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
  • Expert list
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

28 Nov 2020, 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).

28 Nov 2020, 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).

28 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VMA21 was added gene: VMA21 was added to Congenital Disorders of Glycosylation. Sources: Expert list 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 27916343; 25809233; 23315026 Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy (MIM#310440) Review for gene: VMA21 was set to GREEN