Distal myopathies
Gene: VCP
VCP (valosin containing protein)
EnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 11 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: can cause a distal myopathy phenotypeCreated: 20 Feb 2017, 5:05 p.m.
Typically causes Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD), with adult-onset proximal and distal muscle weakness. a distinct distal phenotype has been also described in one family (21684747)Created: 1 Feb 2017, 11:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320
- OMIM
- 601023
- Clinvar variants
- Variants in VCP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Arthrogryposis
- Congenital myopathy
- Intellectual disability
- Adult onset neurodegenerative disorder
- DDG2P
- Amyotrophic lateral sclerosis/motor neuron disease
- Distal myopathies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
22 Feb 2017, Gel status: 4
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
20 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Feb 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)VCP was added to Distal myopathiespanel. Sources: Expert Review
1 Feb 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)VCP was created by arianna