Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: VCPComment 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 167320Created: 20 Jun 2016, 7:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
Phenotypes for VCP were set to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
This gene has been classified as Green List (High Evidence).
VCP was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Publications for VCP were set to 15034582; 18341608; 21984748; 21145000
Phenotypes for VCP were set to Limb-girdle muscular dystrophy; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
Model of inheritance for gene VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene VCP were set to Limb-girdle muscular dystrophy
VCP was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory