Hereditary neuropathy
Gene: PRKCG
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.
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.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
Publications
Neuropathy rare featureCreated: 6 Jun 2019, 10:52 a.m.
Peripheral neuopathy to date only reported in a single caseCreated: 2 Jun 2019, 9:41 p.m.
Not a CMT geneCreated: 9 Dec 2015, 8:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Usually adult onset isolated cerebellar ataxia. Missense mutation in catalytic domain of exon 11 associated with complex syndrome including cerebellar ataxia, sensory motor axonal neuropathy, parkinsonism, dystonia, myoclonus and pyramidal syndrome.
Publications
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Source Expert Review Amber was added to PRKCG. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Phenotypes for gene: PRKCG were changed from Hereditary Neuropathies to Hereditary Neuropathies; Usually adult onset isolated cerebellar ataxia. Missense mutation in catalytic domain of exon 11 associated with complex syndrome including cerebellar ataxia, sensory motor axonal neuropathy, parkinsonism, dystonia, myoclonus and pyramidal syndrome; Spinocerebellar ataxia 14, 605361
Publications for gene: PRKCG were set to 26633542
Mode of inheritance for gene: PRKCG was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London North GLH was added to PRKCG.
Added phenotypes Hereditary Neuropathies for gene: PRKCG Publications for gene PRKCG were changed from to 26633542
Source NHS GMS was added to PRKCG.
Source South West GLH was added to PRKCG.
PRKCG was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory