Undiagnosed metabolic disordersSTR: ATXN7_CAG
Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Created: 5 Dec 2018, 6:17 p.m.
Number of normal repeats was changed from 18 to 34.
Created: 6 Jun 2018, 1:27 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: 1 Jun 2018, 9:41 a.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
Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Tag curated_removed tag was added to STR: ATXN7_CAG.
Str: atxn7_cag has been removed from the panel.
Normal Number of Repeats for ATXN7_CAG was changed from 18 to 34. Panel: Undiagnosed metabolic disorders
STR was added to STR: ATXN7_CAG. Panel: Undiagnosed metabolic disorders
STR: ATXN7_CAG was added to Undiagnosed metabolic disorders panel. Sources: Expert list
STR: ATXN7_CAG was created by Ellen McDonagh