Hereditary spastic paraplegia
STR: PPP2R2B_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 3:41 p.m. | Last Modified: 15 Mar 2022, 3:41 p.m.
Panel Version: 1.289
Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR resultsCreated: 5 Dec 2018, 1:31 p.m.
Str: ppp2r2b_cag has been classified as Green List (High Evidence).
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. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326 to Spinocerebellar ataxia 12, OMIM:604326
Phenotypes for STR: PPP2R2B_CAG were changed from to Spinocerebellar ataxia 12 604326
Tag STR tag was added to STR: PPP2R2B_CAG.
Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Str: ppp2r2b_cag has been classified as Red List (Low Evidence).
STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: PPP2R2B_CAG was marked as current diagnostic