Limb girdle muscular dystrophy

Gene: VCP

Green List (high evidence)

VCP (valosin containing protein)
EnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 3/4 sources. No reviewer comments. More than three variants associated with phenotype OMIM 167320
Created: 20 Jun 2016, 7:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
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

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

20 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for VCP were set to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320

20 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jun 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

VCP was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

20 Jun 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for VCP were set to 15034582; 18341608; 21984748; 21145000

17 Jun 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for VCP were set to Limb-girdle muscular dystrophy; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320

14 Jun 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Jun 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene VCP were set to Limb-girdle muscular dystrophy

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

VCP was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory