Hereditary ataxiaSTR: ATXN7_CAG
Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Created: 5 Dec 2018, 12:59 p.m.
added STR tag
Created: 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
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).
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