Paroxysmal central nervous system disorders
STR: CACNA1A_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:50 p.m. | Last Modified: 15 Mar 2022, 12:50 p.m.
Panel Version: 1.40
Comment on list classification: Demoted STR from Green to Red based on GLH review and a recent comment (September 30th 2019) from Robyn Labrum (University College London Hospitals) collated on behalf of London North GLH for the GMS Neurology specialist test group: Inappropriate phenotype. Better suited to ataxia panels, epilepsy or muscular dystrophy panel.Created: 1 Oct 2019, 12:32 p.m. | Last Modified: 1 Oct 2019, 12:32 p.m.
Panel Version: 0.163
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: CACNA1A_CAG. Suggested rating: ?; Comments provided: Triplet repeat. Primarily an ataxia gene.Created: 1 Oct 2019, 10:28 a.m. | Last Modified: 1 Oct 2019, 10:28 a.m.
Panel Version: 0.157
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: CACNA1A_CAG. Suggested rating: Red; Comments provided: None.Created: 23 Sep 2019, 10:25 a.m. | Last Modified: 23 Sep 2019, 10:25 a.m.
Panel Version: 0.94
Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert listCreated: 11 Jan 2019, 5:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 6 183086
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
Str: cacna1a_cag has been classified as Red List (Low Evidence).
Str: cacna1a_cag has been classified as Green List (High Evidence).
STR: CACNA1A_CAG was added STR: CACNA1A_CAG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. 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