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Hereditary neuropathy NOT PMP22 copy number

Gene: PRKCG

Amber List (moderate evidence)

PRKCG (protein kinase C gamma)
EnsemblGeneIds (GRCh38): ENSG00000126583
EnsemblGeneIds (GRCh37): ENSG00000126583
OMIM: 176980, Gene2Phenotype
PRKCG is in 9 panels

5 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): Extension of panel scope - minor feature / Neuropathy rare feature - Amber
Created: 7 Dec 2019, 12:03 a.m. | Last Modified: 7 Dec 2019, 12:03 a.m.
Panel Version: 0.86
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, 10:25 p.m. | Last Modified: 6 Dec 2019, 10:25 p.m.
Panel Version: 0.84
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.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Unable to find any evidence of clear neuropathy association
Created: 29 Apr 2019, 12:30 p.m.

Phenotypes
Hereditary Neuropathies

Publications

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

I don't know

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Neuropathy rare feature
Created: 6 Jun 2019, 10:52 a.m.
Peripheral neuopathy to date only reported in a single case
Created: 2 Jun 2019, 9:41 p.m.
Not a CMT gene
Created: 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

Mary Reilly (Institute of Neurology)

Not a CMT gene
Created: 8 Dec 2015, 3:06 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • London North GLH
  • South West GLH
  • Emory Genetics Laboratory
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
  • Spinocerebellar ataxia 14, 605361
  • 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
OMIM
176980
Clinvar variants
Variants in PRKCG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to PRKCG. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PRKCG was added gene: PRKCG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKCG were set to 26633542; 29603387 Phenotypes for gene: PRKCG were set to Hereditary Neuropathies; Spinocerebellar ataxia 14, 605361; 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