Arthrogryposis
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
Alice Gardham (Genomics England)
Comment on list classification: No association with arthrogryposisCreated: 4 Jan 2017, 1:28 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 Inclusion body myopathy,Paget disease and frontotemporal dementia 1, 167320
- Inclusion Body Myopathy, Dominant
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
- OMIM
- 601023
- Clinvar variants
- Variants in VCP
- Penetrance
- Complete
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary neuropathy
- DDG2P
- Congenital myopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Distal myopathies
- Amyotrophic lateral sclerosis/motor neuron disease
- Adult onset neurodegenerative disorder
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
4 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
4 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)VCP was created by ellenmcdonagh
21 Dec 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)VCP was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services