Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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

1 review

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 10 Nov 2021, 5:50 p.m. | Last Modified: 10 Nov 2021, 5:50 p.m.
Panel Version: 2.271

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

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

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

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PPP2R2B was added gene: PPP2R2B was added to Ataxia and cerebellar anomalies - narrow panel. Sources: 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