Skeletal dysplasiaSTR: ATXN10_ATTCT
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, 5:27 p.m.
Comments from Arianna Tucci: expanded repeat alleles are mostly unstable with paternal transmission but remarkably stable with maternal transmission (12164725).
Created: 1 Jun 2018, 9:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia , 603516
Variants in this STR are reported as part of current diagnostic practice
Tag curated_removed tag was added to STR: ATXN10_ATTCT.
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 removed from the panel.
STR was added to STR: ATXN10_ATTCT. Panel: Unexplained skeletal dysplasia
STR: ATXN10_ATTCT was added to Unexplained skeletal dysplasia panel. Sources: Expert list
STR: ATXN10_ATTCT was created by Ellen McDonagh