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Research panel - Severe Paediatric Disorders

Gene: VCP

Green List (high evidence)
VCP (valosin containing protein)
EnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: VCP; Recommended initial gene rating: Green List (high evidence); Phenotypes: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3) | Charcot-Marie-Tooth disease, type 2Y, 616687 (3) | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3); Mode of inheritance: ND | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:27 p.m.
Last Modified: 20 Feb 2020, 5:27 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320
  • Charcot-Marie-Tooth disease, type 2Y, 616687
OMIM
601023
Clinvar variants
Variants in VCP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene VCP were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene VCP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to VCP.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to VCP. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: VCP was added gene: VCP was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: VCP was set to