Hereditary ataxia
STR: ATXN7_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:22 p.m. | Last Modified: 15 Mar 2022, 12:22 p.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, 12:59 p.m.
added STR tagCreated: 31 May 2018, 4:05 p.m.
The number of normal repeats was changed from 18 to 34.Created: 6 Jun 2018, 1:29 p.m.
Comments from Arianna Tucci: Marked anticipation. Anticipation in a family may be so dramatic that a child may be diagnosed with what is thought to be a sporadic neurodegenerative disease years before a parent or grandparent with an ATXN7 CAG repeat expansion becomes symptomatic (15349877).Created: 31 May 2018, 2:20 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 7 164500
Variants in this STR are reported as part of current diagnostic practice
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
Str: atxn7_cag has been classified as Green List (High Evidence).
Str: atxn7_cag has been classified as Red List (Low Evidence).
Normal Number of Repeats for ATXN7_CAG was changed from 18 to 34. Panel: Hereditary ataxia
STR: ATXN7_CAG was added to Hereditary ataxia panel. Sources: Expert list
STR: ATXN7_CAG was created by Ellen McDonagh