Hereditary neuropathy

Gene: VRK1

Green List (high evidence)

Multiple cases with dHMN reported in the literature (summerized in PMID: 37257665). It seems like results if at least one hypomorphic allele is present.

Created: 7 Nov 2023, 2:56 p.m. | Last Modified: 7 Nov 2023, 2:56 p.m.

Panel Version: 1.472

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• PMID: 37257665

Green List (high evidence)

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.

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

• 30847374