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  2. Early onset or syndromic epilepsy
  3. PPP2R2B
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Early onset or syndromic epilepsy

Gene: PPP2R2B

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 11 Mar 2026, 3:39 p.m. | Last Modified: 11 Mar 2026, 3:39 p.m.
Panel Version: 8.134
Created: 11 Mar 2026, 3:39 p.m.
Last Modified: 11 Mar 2026, 3:39 p.m.
Panel version: 8.134

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

11 Mar 2026, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_25_ promote_green was removed from gene: PPP2R2B.

11 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to PPP2R2B. Source Expert Review Green was added to PPP2R2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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