Genes in panel

Hereditary neuropathy

Gene: VCP

Amber List (moderate evidence)

VCP (valosin containing protein)
EnsemblGeneIds (GRCh38): ENSG00000165280
EnsemblGeneIds (GRCh37): ENSG00000165280
OMIM: 601023, Gene2Phenotype
VCP is in 10 panels

5 reviews

Alexander Rossor (UCL Institute of Neurology)

Only two families reported, unclear if definitely causes CMT
Created: 9 May 2019, 12:12 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Two families
Created: 29 Apr 2019, 9:20 a.m.

Variants in this GENE are reported as part of current diagnostic practice

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen McDonagh (Genomics England Curator)

Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 1:10 p.m.
Comment on list classification: Gene added by a reviewer, and rated green by a second reviewer.
Created: 9 May 2016, 10:10 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, type 2Y
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1
OMIM
601023
Clinvar variants
Variants in VCP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

5 Jun 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: VCP were set to PMID: 26574898; 25125609; PMID: 25878907

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to VCP.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to VCP. Rating Changed from Green List (high evidence) to Green List (high evidence)

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for VCP were set to PMID: 26574898; 25125609; PMID: 25878907

9 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for VCP were set to Charcot-Marie-Tooth disease, type 2Y; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1

9 May 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for VCP were set to Charcot-Marie-Tooth disease, type 2Y; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

VCP was created by MReilly-925

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

VCP was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review