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  3. PRKCG
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Early-onset Parkinson disease

Gene: PRKCG

Green List (high evidence)
PRKCG (protein kinase C gamma)
EnsemblGeneIds (GRCh38): ENSG00000126583
EnsemblGeneIds (GRCh37): ENSG00000126583
OMIM: 176980, Gene2Phenotype
PRKCG is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Parkinsonism reported.
Created: 19 Jul 2022, 8:47 a.m. | Last Modified: 19 Jul 2022, 8:47 a.m.
Panel Version: 0.171

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 14, MIM# 605361

Created: 19 Jul 2022, 8:47 a.m.
Last Modified: 19 Jul 2022, 8:47 a.m.
Panel version: 0.171

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 2:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 14; Myoclonus; Parkinsonism; OMIM 605361

Publications

Created: 17 Jul 2022, 2:35 p.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 14, MIM# 605361
  • Myoclonus
  • Parkinsonism
OMIM
176980
Clinvar variants
Variants in PRKCG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRKCG were changed from Spinocerebellar ataxia 14; Myoclonus; Parkinsonism; OMIM 605361 to Spinocerebellar ataxia 14, MIM# 605361; Myoclonus; Parkinsonism

19 Jul 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jul 2022, Gel status: 0

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: PRKCG was added gene: PRKCG was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKCG were set to PMID: 29603387 Phenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14; Myoclonus; Parkinsonism; OMIM 605361 Review for gene: PRKCG was set to GREEN