Neurodegenerative disorders - adult onsetSTR: ATXN7_CAG
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 Group
Created: 8 Oct 2020, 9:28 a.m. | Last Modified: 8 Oct 2020, 9:28 a.m.
Panel Version: 2.25
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, 4:52 p.m. | Last Modified: 23 Jul 2019, 4:52 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, 10:20 a.m. | Last Modified: 9 Jul 2019, 10:20 a.m.
Panel Version: 1.59
Source PanelApp panels : Hereditary spastic paraplegia v1.141, Hereditary ataxia v1.148.
Sources: Expert list
Created: 20 Dec 2018, 4:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 7 164500
Variants in this STR are reported as part of current diagnostic practice
Str: atxn7_cag has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to STR: ATXN7_CAG.
Source Yorkshire and North East GLH was added to STR: ATXN7_CAG.
Source NHS GMS was added to STR: ATXN7_CAG.
Source South West GLH was added to STR: ATXN7_CAG.
Source London North 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 Neurodegenerative disorders - 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