Hereditary spastic paraplegia
STR: CACNA1A_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:48 p.m. | Last Modified: 15 Mar 2022, 12:48 p.m.
Panel Version: 1.289
Comment when marking as ready: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR resultsCreated: 5 Dec 2018, 12:43 p.m.
Str: cacna1a_cag has been classified as Green List (High Evidence).
Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19. Source NHS GMS was added to STR: CACNA1A_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6, OMIM:183086
Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6 183086
Phenotypes for STR: CACNA1A_CAG were changed from to Spinocerebellar ataxia 6 183086
Tag STR tag was added to STR: CACNA1A_CAG.
Str: cacna1a_cag has been classified as Green List (High Evidence).
Str: cacna1a_cag has been classified as Green List (High Evidence).
STR: CACNA1A_CAG was added STR: CACNA1A_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: CACNA1A_CAG was marked as current diagnostic