Hereditary spastic paraplegia
STR: ATXN7_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:25 p.m. | Last Modified: 15 Mar 2022, 12:25 p.m.
Panel Version: 1.289
Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR resultsCreated: 5 Dec 2018, 1:02 p.m.
Str: atxn7_cag has been classified as Green List (High Evidence).
Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37. Source NHS GMS was added to STR: ATXN7_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7 164500
Phenotypes for STR: ATXN7_CAG were changed from to Spinocerebellar ataxia 7 164500
Tag STR tag was added to STR: ATXN7_CAG.
Str: atxn7_cag has been classified as Green List (High Evidence).
Str: atxn7_cag has been classified as Green List (High Evidence).
STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: ATXN7_CAG was marked as current diagnostic