Congenital myopathy
Gene: VCP
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
Comment when marking as ready: Adult onset associated with ALS / FTDCreated: 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
Phenotypes for gene: VCP were changed from 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 to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320
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.
This gene has been classified as Red List (Low Evidence).
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
This gene has been classified as Red List (Low Evidence).
VCP was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
VCP was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen