Congenital myopathy

Gene: VCP

Red List (low evidence)

VCP (valosin containing protein)
EnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 11 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954; Charcot-Marie-Tooth disease, type 2Y 616687; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Adult onset associated with ALS / FTD
Created: 3 Feb 2017, 11:34 a.m.
Comment on list classification: Adult onset muscle phenotype. Associated with ALS / FTD.
Created: 3 Feb 2017, 11:33 a.m.
This gene is not appropriate for a congenital myopathy panel. The mean age at onset of muscle disease (in the myopathic phenotype) is 42 years (range 24-61) and is associated with fronto-temporal dementia. This would therefore be predictive testing which is inappropriate and it is also not related to the phenotype expected in congenital myopathy.
Created: 30 Jan 2017, 12:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954; Charcot-Marie-Tooth disease, type 2Y 616687; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954
  • Charcot-Marie-Tooth disease, type 2Y 616687
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
Tags
adult-onset
OMIM
601023
Clinvar variants
Variants in VCP
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for VCP were set to Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954; Charcot-Marie-Tooth disease, type 2Y 616687; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

VCP was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

VCP was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen