Ataxia - adult onset
Gene: PPP2R2B
Comment on list classification: Note: the trinucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.Created: 18 Apr 2020, 7:30 a.m. | Last Modified: 18 Apr 2020, 7:30 a.m.
Panel Version: 0.50
Ataxia cause by CAG repeat. Normal CAG repeat length is 7 to 32 triplets, and pathogenic CAG repeat length is 51 to 78 triplets
Sources: Expert listCreated: 18 Apr 2020, 7:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 12 MIM#604326
Publications
Mode of pathogenicity
Other
Gene: ppp2r2b has been removed from the panel.
Gene: ppp2r2b has been classified as Green List (High Evidence).
Gene: ppp2r2b has been classified as Green List (High Evidence).
gene: PPP2R2B was added gene: PPP2R2B was added to Ataxia - adult onset. Sources: Expert list STR tags were added to gene: PPP2R2B. Mode of inheritance for gene: PPP2R2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2R2B were set to 10581021; 16138911 Phenotypes for gene: PPP2R2B were set to Spinocerebellar ataxia 12 MIM#604326 Mode of pathogenicity for gene: PPP2R2B was set to Other Review for gene: PPP2R2B was set to GREEN