Adult onset neurodegenerative disorder
STR: PPP2R2B_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 3:42 p.m. | Last Modified: 15 Mar 2022, 3:42 p.m.
Panel Version: 2.267
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, 9:29 a.m. | Last Modified: 8 Oct 2020, 9:29 a.m.
Panel Version: 2.30
Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Age at onset 8 to 55 years (mean 40 years)Created: 23 Jul 2019, 5:03 p.m. | Last Modified: 23 Jul 2019, 5:03 p.m.
Panel Version: 1.75
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.Created: 24 Apr 2019, 2:37 p.m.
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Hereditary spastic paraplegia v1.141, Hereditary ataxia v1.148
Sources: Expert listCreated: 20 Dec 2018, 2:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 12 604326
Publications
Variants in this STR are reported as part of current diagnostic practice
Tag Q3_23_promote_green was removed from STR: PPP2R2B_CAG.
Tag Q3_23_promote_green tag was added to STR: PPP2R2B_CAG.
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.
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.
Source Yorkshire and North East GLH was added to STR: PPP2R2B_CAG.
Source NHS GMS was added to STR: PPP2R2B_CAG.
Source London North GLH was added to STR: PPP2R2B_CAG.
Louise Daugherty: Source PanelApp panels : Parki
Str: ppp2r2b_cag has been classified as Green List (High Evidence).
STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Neurodegenerative disorders - adult onset. 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 Publications for STR: PPP2R2B_CAG were set to 20301381 Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326 Review for STR: PPP2R2B_CAG was set to GREEN