Hereditary neuropathyGene: VRK1
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.
Comment on list classification: New gene added after analysis. To be reviewed by Neurology Test group 17th May 2019
Created: 14 May 2019, 11:22 a.m.
Reported in at least 2 published and mor eunpublished cases
Sources: Expert list
Created: 10 May 2019, 1:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Distal hereditary motor neuropathy
Source Expert Review Green was added to VRK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source London North GLH was added to VRK1.
Gene: vrk1 has been classified as Amber List (Moderate Evidence).
gene: VRK1 was added gene: VRK1 was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VRK1 were set to 30847374 Phenotypes for gene: VRK1 were set to Distal hereditary motor neuropathy Penetrance for gene: VRK1 were set to Complete Review for gene: VRK1 was set to GREEN