Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: VCP
VCP (valosin containing protein)
EnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 12 panels
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 23/12/2021Created: 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
-
- Early-onset Parkinson disease
- Motor Neurone Disease
- Macrocephaly_Megalencephaly
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Incidentalome
- Early-onset Dementia
- Additional findings_Paediatric
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
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