Ataxia and cerebellar anomalies - narrow panel
STR: CACNA1A_CAG
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:44 p.m. | Last Modified: 15 Mar 2022, 12:44 p.m.
Panel Version: 2.288
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, 9:13 a.m. | Last Modified: 8 Oct 2020, 9:13 a.m.
Panel Version: 2.18
Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert listCreated: 21 Dec 2018, 4 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 6 183086
Tag for-review was removed from STR: CACNA1A_CAG.
Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19. Source NHS GMS was added to STR: CACNA1A_CAG.
Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6, OMIM:183086
Tag watchlist tag was added to STR: CACNA1A_CAG.
Str: cacna1a_cag has been classified as Amber List (Moderate Evidence).
Tag for-review tag 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 Ataxia and cerebellar anomalies - narrow panel. 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