Ataxia and cerebellar anomalies - narrow panel
STR: PPP2R2B_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 3:39 p.m. | Last Modified: 15 Mar 2022, 3:39 p.m.
Panel Version: 2.288
Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test GroupCreated: 8 Oct 2020, 9:14 a.m. | Last Modified: 8 Oct 2020, 9:14 a.m.
Panel Version: 2.20
Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert listCreated: 21 Dec 2018, 4:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 12 604326
Tag for-review was removed from STR: PPP2R2B_CAG.
Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43. Source NHS GMS was added to STR: PPP2R2B_CAG.
Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326 to Spinocerebellar ataxia 12, OMIM:604326
Tag watchlist tag was added to STR: PPP2R2B_CAG.
Str: ppp2r2b_cag has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to STR: PPP2R2B_CAG.
Louise Daugherty: Source PanelApp panels : Hered
Str: ppp2r2b_cag has been classified as Green List (High Evidence).
STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list STR tags were added to STR: PPP2R2B_CAG. Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326 Review for STR: PPP2R2B_CAG was set to GREEN