Hereditary ataxia
STR: ATXN10_ATTCTSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:44 a.m. | Last Modified: 15 Mar 2022, 11:44 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, 1:03 p.m.
Comments from Arianna Tucci: expanded repeat alleles are mostly unstable with paternal transmission but remarkably stable with maternal transmission (12164725).Created: 31 May 2018, 1:59 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia , 603516
Publications
Variants in this STR are reported as part of current diagnostic practice
Str: atxn10_attct has been classified as Green List (High Evidence).
Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33. Source NHS GMS was added to STR: ATXN10_ATTCT. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516
Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 603516 to Spinocerebellar ataxia 10 603516
Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia , 603516 to Spinocerebellar ataxia 603516
Str: atxn10_attct has been classified as Green List (High Evidence).
Str: atxn10_attct has been classified as Green List (High Evidence).
STR was added to STR: ATXN10_ATTCT. Panel: Hereditary ataxia
STR: ATXN10_ATTCT was added to Hereditary ataxia panel. Sources: Expert list
STR: ATXN10_ATTCT was created by Ellen McDonagh