Adult onset neurodegenerative disorder
Gene: PPP2R2BComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 10 Nov 2021, 5:50 p.m. | Last Modified: 10 Nov 2021, 5:50 p.m.
Panel Version: 2.242
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Point mutations not associated with SCA12Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
Unknown
Phenotypes
Spinocerebellarataxia12,604326
Mode of pathogenicity for gene: PPP2R2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for gene: PPP2R2B was changed from Unknown to Other
Phenotypes for gene: PPP2R2B were changed from Spinocerebellarataxia12,604326 to Spinocerebellar ataxia 12, OMIM:604326
Tag watchlist was removed from gene: PPP2R2B.
Source NHS GMS was added to PPP2R2B.
Source Yorkshire and North East GLH was added to PPP2R2B.
Rebecca Foulger: Gene awaiting curator evaluati
Tag watchlist tag was added to gene: PPP2R2B. Tag nucleotide-repeat-expansion tag was added to gene: PPP2R2B. Tag currently-ngs-unreportable tag was added to gene: PPP2R2B.
gene: PPP2R2B was added gene: PPP2R2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PPP2R2B was set to Unknown Phenotypes for gene: PPP2R2B were set to Spinocerebellarataxia12,604326