Hereditary ataxia with onset in adulthood
STR: ATXN1_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:41 a.m. | Last Modified: 15 Mar 2022, 11:41 a.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 GreenCreated: 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 (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.Created: 27 Apr 2019, 9:32 p.m.
Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert listCreated: 21 Dec 2018, 12:20 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 1 164400
Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400
Source London North GLH was added to STR: ATXN1_CAG.
Source NHS GMS was added to STR: ATXN1_CAG.
Source Wessex and West Midlands GLH was added to STR: ATXN1_CAG.
Louise Daugherty: Source PanelApp panels : Hered
Str: atxn1_cag has been classified as Green List (High Evidence).
STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: ATXN1_CAG. Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400 Review for STR: ATXN1_CAG was set to GREEN