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Ataxia - adult onset

Gene: PPP2R2B

No list
PPP2R2B (protein phosphatase 2 regulatory subunit Bbeta)
EnsemblGeneIds (GRCh38): ENSG00000156475
EnsemblGeneIds (GRCh37): ENSG00000156475
OMIM: 604325, Gene2Phenotype
PPP2R2B is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 list
Created: 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

Created: 18 Apr 2020, 7:30 a.m.

Panel version: 0.49

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 12 MIM#604326
Tags
STR
OMIM
604325
Clinvar variants
Variants in PPP2R2B
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

28 Sep 2020, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ppp2r2b has been removed from the panel.

18 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ppp2r2b has been classified as Green List (High Evidence).

18 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ppp2r2b has been classified as Green List (High Evidence).

18 Apr 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

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