Hereditary ataxia
Gene: PPP2R2BComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 10 Nov 2021, 5:51 p.m. | Last Modified: 10 Nov 2021, 5:51 p.m.
Panel Version: 1.277
Comment on mode of pathogenicity: Repeat expansionCreated: 21 Jul 2016, 7:46 a.m.
Comment when marking as ready: Repeat expansion so excludedCreated: 3 Jun 2016, 12:05 p.m.
Repeat expansion. NOT APPROPRIATECreated: 24 Nov 2015, 4:57 p.m.
Phenotypes
Spinocerebellarataxia12,604326
Mode of pathogenicity
Other - please provide details in the comments
Mode of inheritance for gene: PPP2R2B was changed from to Other
Phenotypes for gene: PPP2R2B were changed from Spinocerebellarataxia12,604326 to Spinocerebellar ataxia 12, OMIM:604326
Tag watchlist was removed from gene: PPP2R2B.
Mode of pathogenicity for PPP2R2B was changed to Other - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
PPP2R2B was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
PPP2R2B was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen