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Ataxia - paediatric

Gene: PRKCG

Amber List (moderate evidence)

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)

I don't know

Typically adult onset, but note two individuals reported with severe paediatric onset.
Sources: Expert Review
Created: 18 Apr 2022, 1:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 14, MIM# 605361

Publications

Details

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

History Filter Activity

18 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkcg has been classified as Amber List (Moderate Evidence).

18 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkcg has been classified as Amber List (Moderate Evidence).

18 Apr 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRKCG was added gene: PRKCG was added to Ataxia - paediatric. Sources: Expert Review Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKCG were set to 34292398 Phenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14, MIM# 605361 Review for gene: PRKCG was set to AMBER