Adult onset neurodegenerative disorder
STR: ATXN2_CAG
Expansions in ATXN2 are a risk factor for ALS and larger expansions cause SCA2. These results have been replicated by multiple groups and a gene therapy trial to knockdown ATXN2 for ALS is ongoing. THere is growing evidence of a link between ATXN2 expression and the TDP-43 pathology that is classical of the vast majority of ALS. Thus, I strongly believe ATXN2 should have green status in the R58 panelCreated: 14 Feb 2024, 7:26 p.m. | Last Modified: 14 Feb 2024, 7:26 p.m.
Panel Version: 4.46
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
amyotrophic lateral sclerosis; spinocerebellar ataxia 2
Publications
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:47 a.m. | Last Modified: 15 Mar 2022, 11:47 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, 9:27 a.m. | Last Modified: 8 Oct 2020, 9:27 a.m.
Panel Version: 2.23
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, 2:34 p.m. | Last Modified: 9 Jul 2019, 10:19 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, Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert listCreated: 21 Dec 2018, 10:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 2 183090
Variants in this STR are reported as part of current diagnostic practice
Tag Q3_23_promote_green was removed from STR: ATXN2_CAG.
Tag Q3_23_promote_green tag was added to STR: ATXN2_CAG.
Tag for-review was removed from STR: ATXN2_CAG.
Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Tag watchlist tag was added to STR: ATXN2_CAG.
Str: atxn2_cag has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to STR: ATXN2_CAG.
Source Yorkshire and North East GLH was added to STR: ATXN2_CAG.
Source NHS GMS was added to STR: ATXN2_CAG.
Source South West GLH was added to STR: ATXN2_CAG.
Source London North 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 Neurodegenerative disorders - 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