Adult onset movement disorderSTR: ATXN2_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, 10:30 a.m. | Last Modified: 6 Oct 2020, 10:30 a.m.
Panel Version: 1.7
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, 3:16 p.m. | Last Modified: 5 Aug 2019, 3:16 p.m.
Panel Version: 0.93
STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR suggested by Huw and Raquel.
Created: 23 Apr 2019, 1:31 p.m.
Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Created: 11 Jan 2019, 3:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 2 183090
Tag for-review tag was added to STR: ATXN2_CAG.
Str: atxn2_cag has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to STR: ATXN2_CAG.
Source London North GLH was added to STR: ATXN2_CAG. Rating Changed from Green List (high evidence) to Green List (high evidence)
Str: atxn2_cag has been classified as Green List (High Evidence).
STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Adult onset movement disorder. Sources: Expert list STR tags were added to STR: ATXN2_CAG. Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090 Review for STR: ATXN2_CAG was set to GREEN