Genes in panel

Hereditary ataxia - adult onset

Gene: PPP2R2B

Red List (low evidence)

PPP2R2B (protein phosphatase 2 regulatory subunit Bbeta)
EnsemblGeneIds (GRCh38): ENSG00000156475
EnsemblGeneIds (GRCh37): ENSG00000156475
OMIM: 604325, Gene2Phenotype
PPP2R2B is in 13 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 10 Nov 2021, 5:51 p.m. | Last Modified: 10 Nov 2021, 5:51 p.m.
Panel Version: 2.123

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

There are no SNVs for this gene being associated to the disorder, this gene is rated RED. However, there is a pertinent STR PPP2R2B_CAG, which is GREEN on this panel
Created: 19 Jun 2019, 12:42 p.m.

History Filter Activity

10 Nov 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: PPP2R2B was changed from Unknown to Other

10 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PPP2R2B were changed from Spinocerebellarataxia12,604326 to Spinocerebellar ataxia 12, OMIM:604326

10 Nov 2021, Gel status: 1

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: PPP2R2B.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

18 Dec 2018, Gel status: 1

Added Tag, Added Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist tag was added to gene: PPP2R2B. Tag nucleotide-repeat-expansion tag was added to gene: PPP2R2B. Tag currently-ngs-unreportable tag was added to gene: PPP2R2B.

15 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: PPP2R2B was added gene: PPP2R2B was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PPP2R2B was set to Unknown Phenotypes for gene: PPP2R2B were set to Spinocerebellarataxia12,604326 Mode of pathogenicity for gene: PPP2R2B was set to Other - please provide details in the comments