Hereditary ataxia - adult onsetSTR: CACNA1A_CAG
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 12:47 p.m. | Last Modified: 15 Mar 2022, 12:47 p.m.
Panel Version: 2.147
STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 1 Aug 2019, 1:53 p.m. | Last Modified: 1 Aug 2019, 1:53 p.m.
Panel Version: 1.186
Source PanelApp panels : Hereditary ataxia v1.148;Brain channelopathy v1.46
Sources: Expert list
Created: 21 Dec 2018, 12:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 6 183086
Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6, OMIM:183086
Source London North GLH was added to STR: CACNA1A_CAG.
Source NHS GMS was added to STR: CACNA1A_CAG.
Source Wessex and West Midlands 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 Hereditary ataxia - 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