Congenital muscular dystrophy and congenital myopathy
Gene: VCPEnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 11 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
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)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- Phenotypes
-
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320
- Tags
- OMIM
- 601023
- Clinvar variants
- Variants in VCP
- Penetrance
- Complete
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Adult onset neurodegenerative disorder
- DDG2P
- Congenital myopathy
- Intellectual disability
- Distal myopathies
- Amyotrophic lateral sclerosis/motor neuron disease
- Hereditary neuropathy or pain disorder
- Hereditary neuropathy
- Arthrogryposis
History Filter Activity
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: VCP was added gene: VCP was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services adult-onset tags were added to gene: VCP. Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VCP were set to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320 Penetrance for gene: VCP were set to Complete