Retinitis pigmentosa_Autosomal Dominant
Gene: PRKCG

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Originally reported as the cause of RP11, but PRPF31 found to be the cause of RP11 (PMID: 16828200). Also, there have been no reported association with RP since 2006.
Created: 7 Feb 2020, 10:12 a.m. | Last Modified: 7 Feb 2020, 10:12 a.m.

Panel Version: 0.13

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

Phenotypes
Retinitis pigmentosa 11 MIM#600138

Publications

Created: 7 Feb 2020, 10:12 a.m.
Last Modified: 7 Feb 2020, 10:12 a.m.
Panel version: Imported from Retinitis Pigmentosa panel version 0.13

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert list

Phenotypes

Retinitis pigmentosa 11 MIM#600138

OMIM

176980

Clinvar variants

Variants in PRKCG

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRKCG was added gene: PRKCG was added to Autosomal Dominant Retinitis Pigmentosa. Sources: Expert list Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKCG were set to 9545390; 16828200 Phenotypes for gene: PRKCG were set to Retinitis pigmentosa 11 MIM#600138

Retinitis pigmentosa_Autosomal Dominant Gene: PRKCG