Amyotrophic lateral sclerosis/motor neuron disease
Gene: VCPEnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Two families reported in OMIM for two variants. Additional multiple reports published (see publications).Created: 24 Nov 2016, 12:43 p.m.
This gene is on the ALS/MND NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 13 Jun 2016, 9:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
familial amyotrophic lateral sclerosis (ALS14)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954
- Amyotrophic Lateral Sclerosis, Dominant
- familial amyotrophic lateral sclerosis (ALS14)
- 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
- 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
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 19th December 2016 following external review and internal curation
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for VCP were set to Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Amyotrophic Lateral Sclerosis, Dominant; familial amyotrophic lateral sclerosis (ALS14)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for VCP were set to 27178390; 26511028; 25618255; 25492614; 25457024; 23881933
Set publications
Ellen McDonagh (Genomics England Curator)Publications for VCP were set to PMID: 27178390;
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)VCP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)VCP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)VCP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)VCP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)VCP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)VCP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)VCP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)VCP was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert