Undiagnosed metabolic disorders
STR: ATXN7_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:32 p.m. | Last Modified: 15 Mar 2022, 12:32 p.m.
Panel Version: 1.513
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
Phenotypes
Spinocerebellar ataxia 7 164500
Variants in this STR are reported as part of current diagnostic practice
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.
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