Adult onset neurodegenerative disorder
STR: ATXN1_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:42 a.m. | Last Modified: 15 Mar 2022, 11:42 a.m.
Panel Version: 2.267
Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test GroupCreated: 8 Oct 2020, 9:26 a.m. | Last Modified: 8 Oct 2020, 9:26 a.m.
Panel Version: 2.22
Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.Created: 23 Jul 2019, 4:51 p.m. | Last Modified: 23 Jul 2019, 4:51 p.m.
Panel Version: 1.75
Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.Created: 9 Jul 2019, 10:18 a.m. | Last Modified: 9 Jul 2019, 10:18 a.m.
Panel Version: 1.59
Green rating for STR submitted on behalf of James Polke, also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.Created: 24 Apr 2019, 2:27 p.m. | Last Modified: 9 Jul 2019, 10:18 a.m.
Panel Version: 1.59
Source PanelApp panels :Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert listCreated: 21 Dec 2018, 10:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 1 164400
Variants in this STR are reported as part of current diagnostic practice
Tag Q3_23_promote_green was removed from STR: ATXN1_CAG.
Tag Q3_23_promote_green tag was added to STR: ATXN1_CAG.
Tag for-review was removed from STR: ATXN1_CAG.
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
Tag watchlist tag was added to STR: ATXN1_CAG.
Str: atxn1_cag has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to STR: ATXN1_CAG.
Source NHS GMS was added to STR: ATXN1_CAG.
Source South West GLH was added to STR: ATXN1_CAG.
Source London North GLH was added to STR: ATXN1_CAG.
Louise Daugherty: Source PanelApp panels :Heredi
Str: atxn1_cag has been classified as Green List (High Evidence).
STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Neurodegenerative disorders - 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