Hereditary ataxia with onset in adulthood
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: 2.147
Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR GreenCreated: 5 Aug 2019, 3:13 p.m. | Last Modified: 5 Aug 2019, 3:13 p.m.
Panel Version: 1.194
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. Comment : SCA 12 expansionCreated: 27 Apr 2019, 9:35 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Associated with CAG expanions, no evidence for SNVs - requires STR calling. Do you report variants in this gene as part of your current diagnostic practice? NoCreated: 14 Apr 2019, 4:12 p.m.
Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert listCreated: 21 Dec 2018, 1:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 12 604326
Publications
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
Source London North GLH was added to STR: PPP2R2B_CAG.
Source Wessex and West Midlands GLH was added to STR: PPP2R2B_CAG.
Source NHS GMS was added to STR: PPP2R2B_CAG. Rating Changed from Green List (high evidence) to Green List (high evidence)
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 Hereditary ataxia - 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