Adult onset movement disorderSTR: PPP2R2B_CAG
Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.
Created: 6 Oct 2020, 10:31 a.m. | Last Modified: 6 Oct 2020, 10:31 a.m.
Panel Version: 1.11
STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. 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 Green
Created: 5 Aug 2019, 3:28 p.m. | Last Modified: 5 Aug 2019, 3:28 p.m.
Panel Version: 0.95
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Created: 11 Jan 2019, 4:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 12 604326
Tag for-review tag was added to STR: PPP2R2B_CAG.
Str: ppp2r2b_cag has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to STR: PPP2R2B_CAG.
Str: ppp2r2b_cag has been classified as Green List (High Evidence).
STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Adult onset movement disorder. 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