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Hereditary neuropathy NOT PMP22 copy number

Gene: VRK1

Green List (high evidence)

VRK1 (vaccinia related kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000100749
EnsemblGeneIds (GRCh37): ENSG00000100749
OMIM: 602168, Gene2Phenotype
VRK1 is in 15 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber: From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart)
New evidence/re-evaluation of evidence - promotion to Green / Additional evidence: PMID:30847374 cites 2 other cases with neuropathy & unpublished evidence.
Created: 6 Dec 2019, 3:02 p.m. | Last Modified: 6 Dec 2019, 3:04 p.m.
Panel Version: 0.40
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 1:25 p.m. | Last Modified: 6 Dec 2019, 1:25 p.m.
Panel Version: 0.21
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.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

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

Phenotypes
Distal hereditary motor neuropathy

Publications

History Filter Activity

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: vrk1 has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: VRK1 was added gene: VRK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review Amber,London North GLH,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