Hereditary ataxiaSTR: PPP2R2B_CAG
Comment on list classification: changed to green as diagnostic for ataxia
Created: 5 Jun 2018, 11 a.m.
Genomic coordinates have been changed to that for the STR in the reference genome.
Created: 6 Jun 2018, 11:57 a.m.
Please note: The current genomic coordinates provided are for the X gene and not for the STR region. These will be replaced once the location is confimed.
Created: 31 May 2018, 2:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 12 604326
Variants in this STR are reported as part of current diagnostic practice
GRCh37 position for PPP2R2B_CAG was changed from 145960709-146464347 to 146258292-146258321. Panel: Hereditary ataxia GRCh38 position for PPP2R2B_CAG was changed from 146581146-147084784 to 146878729-146878758. Panel: Hereditary ataxia
Str: ppp2r2b_cag has been classified as Green List (High Evidence).
STR was added to STR: PPP2R2B_CAG. Panel: Hereditary ataxia
STR: PPP2R2B_CAG was added to Hereditary ataxia panel. Sources: Expert list
STR: PPP2R2B_CAG was created by Ellen McDonagh