Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: VCP

Green List (high evidence)

VCP (valosin containing protein)
EnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Definitive gene-disease validity - reviewed 23/12/2021
Created: 5 Jun 2023, 6:14 a.m. | Last Modified: 5 Jun 2023, 6:14 a.m.
Panel Version: 0.156

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
OMIM
601023
Clinvar variants
Variants in VCP
Penetrance
None
Panels with this gene

History Filter Activity

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: VCP was added gene: VCP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCP were set to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320