Hereditary ataxia
Gene: PRKCGComment when marking as ready: Good evidence from OMIM and expert reviewCreated: 2 Feb 2016, 10:03 a.m.
Lots of evidence in literature. Positives in our cohort. Mode of pathogenicity: Gain-of-function?Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 14
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene PRKCG was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PRKCG was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene PRKCG was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PRKCG was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
PRKCG was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN