Motor Neurone Disease
Gene: VCPEnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 12 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene with variable expressivity.
Mutations in VCP are reported with only Familial ALS cases and occurs with or without mild cognitive impairment.
PMID: 20301649 - There seems to be phenotypic overlap between ALS and inclusion body myopathy, Paget disease, and frontotemporal dementia (IBMPFD) with ALS having more of a specific phenotype.
PMID: 21145000 -7 individuals from the 3 unrelated family with a clinical and genetic diagnosis of ALS (with or without FTD)Created: 18 May 2023, 6:43 a.m. | Last Modified: 18 May 2023, 6:43 a.m.
Panel Version: 0.138
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (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
-
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (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 Motor neuron disease MND_MelbourneGenomics_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