Neurodegenerative disorders - adult onsetSTR: CACNA1A_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: 2.26
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. Comment: Age of onset 20-65 years
Created: 23 Jul 2019, 4:53 p.m. | Last Modified: 23 Jul 2019, 4:53 p.m.
Panel Version: 1.75
Source PanelApp panels : Hereditary ataxia v1.148, Brain channelopathy v1.46, Hereditary spastic paraplegia v1.141.
Sources: Expert list
Created: 20 Dec 2018, 4:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 6 183086
Variants in this STR are reported as part of current diagnostic practice
Str: cacna1a_cag has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to STR: CACNA1A_CAG.
Source Yorkshire and North East GLH was added to STR: CACNA1A_CAG.
Louise Daugherty: Source PanelApp panels : Hered
Str: cacna1a_cag has been classified as Green List (High Evidence).
STR: CACNA1A_CAG was added STR: CACNA1A_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: CACNA1A_CAG. Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086 Review for STR: CACNA1A_CAG was set to GREEN