Early-onset Parkinson disease
Gene: VCPEnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Parkinsonism is a rare feature of VCP-related multisystem proteinopathy, but has been reported in at least 15 individuals with VCP variants.
Sources: LiteratureCreated: 20 Apr 2024, 4:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507
- OMIM
- 601023
- Clinvar variants
- Variants in VCP
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: vcp has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: vcp has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: VCP was added gene: VCP was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VCP were set to 38283104; 38145206 Phenotypes for gene: VCP were set to Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507 Mode of pathogenicity for gene: VCP was set to Other Review for gene: VCP was set to GREEN gene: VCP was marked as current diagnostic