Incidentalome_PREGEN_DRAFT
Gene: VCP
VCP (valosin containing protein)
EnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 12 panels
1 review
Tony Roscioli (New South Wales Health Pathology)
Comment when marking as ready: Some evidence for AD CMT 2Y, but only a few families
Major phenotype for gene is an adult onset dementia
Should be kept in the PreGen incidentalome gene listCreated: 7 Jan 2021, 1:08 a.m. | Last Modified: 7 Jan 2021, 1:08 a.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- NSW Health Pathology
- OMIM
- 601023
- Clinvar variants
- Variants in VCP
- Penetrance
- None
- Panels with this gene
-
- Early-onset Parkinson disease
- Motor Neurone Disease
- Macrocephaly_Megalencephaly
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Incidentalome
- Early-onset Dementia
- Additional findings_Paediatric
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
History Filter Activity
7 Jan 2021, Gel status: 3
Entity classified by Genomics England curator
Tony Roscioli (New South Wales Health Pathology)Gene: vcp has been classified as Green List (High Evidence).
9 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: VCP was added gene: VCP was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: VCP was set to Unknown