Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Ataxia - paediatric v0.334 | PRKCG | Zornitza Stark Marked gene: PRKCG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.334 | PRKCG | Zornitza Stark Gene: prkcg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.334 | PRKCG | Zornitza Stark Classified gene: PRKCG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.334 | PRKCG | Zornitza Stark Gene: prkcg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.333 | PRKCG |
Zornitza Stark 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 Added comment: Typically adult onset, but note two individuals reported with severe paediatric onset. Sources: Expert Review |