Hereditary ataxia
STR: ATXN1_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:42 a.m. | Last Modified: 15 Mar 2022, 11:42 a.m.
Panel Version: 1.298
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, 10:42 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 1 164400
Variants in this STR are reported as part of current diagnostic practice
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
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
Str: atxn1_cag has been classified as Green List (High Evidence).
Str: atxn1_cag has been classified as Green List (High Evidence).
Pathogenic Number of Repeats for ATXN1_CAG was changed from 39 to 44.
STR was added to STR: ATXN1_CAG. Panel: Hereditary ataxia
STR: ATXN1_CAG was added to Hereditary ataxia panel. Sources: Expert list
STR: ATXN1_CAG was created by Ellen McDonagh