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Regression
Gene: PRKCG

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Typically adult-onset SCA, rather than neurodevelopmental regression.
Created: 18 Apr 2022, 1:20 a.m. | Last Modified: 18 Apr 2022, 1:20 a.m.

Panel Version: 0.465

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 14, MIM# 605361

Publications

Created: 18 Apr 2022, 1:20 a.m.
Last Modified: 18 Apr 2022, 1:20 a.m.
Panel version: 0.465

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Spinocerebellar ataxia 14, MIM# 605361

OMIM

Clinvar variants

Variants in PRKCG

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkcg has been classified as Red List (Low Evidence).

18 Apr 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Apr 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRKCG were set to

18 Apr 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkcg has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRKCG was added gene: PRKCG was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRKCG was set to Unknown