Hereditary ataxia with onset in adulthood
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: 2.123
There are no SNVs for this gene being associated to the disorder, this gene is rated RED. However, there is a pertinent STR PPP2R2B_CAG, which is GREEN on this panelCreated: 19 Jun 2019, 12:42 p.m.
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.
Louise Daugherty: Comment on phenotypes: Implica
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 Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PPP2R2B was set to Unknown Phenotypes for gene: PPP2R2B were set to Spinocerebellarataxia12,604326 Mode of pathogenicity for gene: PPP2R2B was set to Other - please provide details in the comments