Hereditary ataxia - adult onsetSTR: ATXN7_CAG
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 12:24 p.m. | Last Modified: 15 Mar 2022, 12:24 p.m.
Panel Version: 2.147
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, 3:11 p.m. | Last Modified: 5 Aug 2019, 3:11 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, 9:34 p.m. | Last Modified: 7 Jul 2019, 4:10 p.m.
Panel Version: 1.177
Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Created: 21 Dec 2018, 12:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 7 164500
Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Source London North GLH was added to STR: ATXN7_CAG.
Source NHS GMS was added to STR: ATXN7_CAG.
Source Wessex and West Midlands GLH was added to STR: ATXN7_CAG.
Louise Daugherty: Source PanelApp panels : Hered
Str: atxn7_cag has been classified as Green List (High Evidence).
STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: ATXN7_CAG. Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500 Review for STR: ATXN7_CAG was set to GREEN