Hereditary ataxia - adult onsetSTR: ATXN2_CAG
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, 3:10 p.m. | Last Modified: 5 Aug 2019, 3:10 p.m.
Panel Version: 1.194
Green rating for STR submitted on behalf of James Polke, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 9:33 p.m. | Last Modified: 7 Jul 2019, 3:40 p.m.
Panel Version: 1.174
Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Created: 21 Dec 2018, 12:40 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 2 183090
Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2, OMIM:183090
Source London North GLH was added to STR: ATXN2_CAG.
Source NHS GMS was added to STR: ATXN2_CAG.
Source Wessex and West Midlands GLH was added to STR: ATXN2_CAG.
Louise Daugherty: Source PanelApp panels : Hered
Str: atxn2_cag has been classified as Green List (High Evidence).
STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Hereditary ataxia - adult onset. 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