Hereditary neuropathy
Gene: VCPOnly two families reported, unclear if definitely causes CMTCreated: 9 May 2019, 12:12 p.m.
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.
Two familiesCreated: 29 Apr 2019, 9:20 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
Source Expert Review Amber was added to VCP. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Publications for gene: VCP were set to PMID: 26574898; 25125609; PMID: 25878907
Source NHS GMS was added to VCP.
Source London North GLH was added to VCP. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for VCP were set to PMID: 26574898; 25125609; PMID: 25878907
This gene has been classified as Green List (High Evidence).
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
Phenotypes for VCP were set to Charcot-Marie-Tooth disease, type 2Y; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
VCP was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review
VCP was created by MReilly-925