Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: VCPEnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 15 panels
2 reviews
simon mead (UCL)
Caroline Wright (Genomics England Curator)
Comment on list classification: Numerous patients described in ClInVar and OMIMCreated: 10 May 2016, 12:40 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, OMIM:613954
- OMIM
- 601023
- Clinvar variants
- Variants in VCP
- Penetrance
- Complete
- Panels with this gene
-
- Limb disorders
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary neuropathy
- Distal myopathies
- Skeletal dysplasia
- Intellectual disability
- DDG2P
- Congenital myopathy
- Pulmonary arterial hypertension
- Amyotrophic lateral sclerosis/motor neuron disease
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: VCP were changed from Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, OMIM:613954
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for VCP was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)VCP was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)VCP was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN