Hereditary spastic paraplegia
STR: ATXN1_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:41 a.m. | Last Modified: 15 Mar 2022, 11:41 a.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, 10:49 a.m.
Sources: Expert ReviewCreated: 5 Dec 2018, 10:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Str: atxn1_cag has been classified as Green List (High Evidence).
Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45. Source NHS GMS was added to STR: ATXN1_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400
Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400
Tag STR tag was added to STR: ATXN1_CAG.
Str: atxn1_cag has been classified as Green List (High Evidence).
Str: atxn1_cag has been classified as Green List (High Evidence).
STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: ATXN1_CAG was set to GREEN