Genes in panel

Hereditary neuropathy

Gene: PRKCG

Red List (low evidence)

PRKCG (protein kinase C gamma)
EnsemblGeneIds (GRCh38): ENSG00000126583
EnsemblGeneIds (GRCh37): ENSG00000126583
OMIM: 176980, Gene2Phenotype
PRKCG is in 8 panels

5 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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
  • London North GLH
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
Phenotypes
  • 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
OMIM
176980
Clinvar variants
Variants in PRKCG
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Jun 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

6 Jun 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PRKCG were set to 26633542

6 Jun 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PRKCG was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Jun 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PRKCG.

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Hereditary Neuropathies for gene: PRKCG Publications for gene PRKCG were changed from to 26633542

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PRKCG.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to PRKCG.

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PRKCG was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory