Hereditary ataxia
STR: PPP2R2B_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 3:39 p.m. | Last Modified: 15 Mar 2022, 3:39 p.m.
Panel Version: 1.298
Comment on list classification: changed to green as diagnostic for ataxiaCreated: 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
Phenotypes
Spinocerebellar ataxia 12 604326
Publications
Variants in this STR are reported as part of current diagnostic practice
Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43. Source NHS GMS was added to STR: PPP2R2B_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326 to Spinocerebellar ataxia 12, OMIM:604326
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