Distal myopathies

Gene: VCP

Green List (high evidence)

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: can cause a distal myopathy phenotype
Created: 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

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