Adult onset 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: 1.95
STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.Created: 22 May 2019, 12:16 p.m.
Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 26 Apr 2019, 1:11 p.m.
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
Sources: Expert listCreated: 26 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 12 604326
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 NHS GMS was added to STR: PPP2R2B_CAG.
Source South West GLH was added to STR: PPP2R2B_CAG.
Source London North GLH was added to STR: PPP2R2B_CAG.
Source Expert Review Green was added to STR: PPP2R2B_CAG. Rating Changed from Red List (low evidence) to Green List (high evidence)
STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Hereditary spastic paraplegia - 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 Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326 Review for STR: PPP2R2B_CAG was set to GREEN