Early-onset Dementia
Gene: VCPEnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 12 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Well established gene-disease association with multiple unrelated individuals with FTD as a feature of the condition.
Overlapping phenotype with ALS and IBMPFD and has been reported in multiple individuals with either ALS or IBMPFD.Created: 14 Aug 2023, 4:41 a.m. | Last Modified: 14 Aug 2023, 4:41 a.m.
Panel Version: 0.160
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (MIM#167320); Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (MIM#613954)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (MIM#167320)
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (MIM#613954)
- OMIM
- 601023
- Clinvar variants
- Variants in VCP
- Penetrance
- None
- Publications
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vcp has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: VCP were changed from to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (MIM#167320); Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (MIM#613954)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: VCP were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: VCP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: VCP was added gene: VCP was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: VCP was set to Unknown