Adult onset neurodegenerative disorder
STR: ATN1_CAGThe rating of this STR has been updated to green after review of STRs on panels that have moved to WGS in phase 2 and NHS Genomic Medicine Service approval.Created: 31 Jul 2023, 1:51 p.m. | Last Modified: 31 Jul 2023, 1:51 p.m.
Panel Version: 4.32
It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.Created: 29 Jun 2023, 4 p.m. | Last Modified: 29 Jun 2023, 4 p.m.
Panel Version: 4.28
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:39 a.m. | Last Modified: 15 Mar 2022, 11:39 a.m.
Panel Version: 2.267
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, 10:35 a.m. | Last Modified: 6 Oct 2020, 10:35 a.m.
Panel Version: 2.18
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, 4:50 p.m. | Last Modified: 23 Jul 2019, 4:50 p.m.
Panel Version: 1.75
Green rating inferred from review comment on 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, 10:16 a.m. | Last Modified: 9 Jul 2019, 10:16 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, 2:05 p.m. | Last Modified: 9 Jul 2019, 10:16 a.m.
Panel Version: 1.59
Source PanelApp panels : Hereditary ataxia v1.150, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Brain channelopathy v1.48, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert listCreated: 21 Dec 2018, 10:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dentatorubro-pallidoluysian atrophy 125370
Publications
Variants in this STR are reported as part of current diagnostic practice
Str: atn1_cag has been classified as Green List (High Evidence).
Tag watchlist was removed from STR: ATN1_CAG. Tag Q3_23_promote_green was removed from STR: ATN1_CAG.
Tag Q3_23_promote_green tag was added to STR: ATN1_CAG.
Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Tag watchlist tag was added to STR: ATN1_CAG.
Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tag for-review was removed from STR: ATN1_CAG.
Tag for-review tag was added to STR: ATN1_CAG.
Str: atn1_cag has been classified as Amber List (Moderate Evidence).
Source Yorkshire and North East GLH was added to STR: ATN1_CAG.
Source NHS GMS was added to STR: ATN1_CAG.
Source South West GLH was added to STR: ATN1_CAG.
Source London North GLH was added to STR: ATN1_CAG. Publications for STR: ATN1_CAG were changed from 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 to 20301664; 8136826; 8136840; 7614090
Louise Daugherty: Source PanelApp panels : Hered
Str: atn1_cag has been classified as Green List (High Evidence).
STR: ATN1_CAG was added STR: ATN1_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: ATN1_CAG. Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370 Review for STR: ATN1_CAG was set to GREEN