1. Panels
  2. Early onset or syndromic epilepsy
  3. PPP2R2B
Genes in panel
Prev Next

Early onset or syndromic epilepsy

Gene: PPP2R2B

Amber List (moderate evidence)
PPP2R2B (protein phosphatase 2 regulatory subunit Bbeta)
EnsemblGeneIds (GRCh38): ENSG00000156475
EnsemblGeneIds (GRCh37): ENSG00000156475
OMIM: 604325, Gene2Phenotype
PPP2R2B is in 14 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on publications: PMID: 39565297 and 25356899 were identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 19 Mar 2025, 12:01 p.m. | Last Modified: 19 Mar 2025, 12:01 p.m.
Panel Version: 7.73
Comment on phenotypes: The PPP2R2B_CAG variant is associated with Spinocerebellar ataxia 12, OMIM:604326
Created: 19 Mar 2025, noon | Last Modified: 19 Mar 2025, noon
Panel Version: 7.72
Sources: Literature
Created: 19 Mar 2025, noon

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental syndrome

Publications

Created: 19 Mar 2025, noon

Panel version: 7.71

History Filter Activity

19 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ppp2r2b has been classified as Amber List (Moderate Evidence).

19 Mar 2025, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PPP2R2B were set to 39565297; 25356899

19 Mar 2025, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PPP2R2B were changed from neurodevelopmental syndrome to neurodevelopmental syndrome

19 Mar 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: PPP2R2B was added gene: PPP2R2B was added to Early onset or syndromic epilepsy. Sources: Literature Q1_25_ promote_green 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 39565297; 25356899 Phenotypes for gene: PPP2R2B were set to neurodevelopmental syndrome Review for gene: PPP2R2B was set to GREEN