DDG2P
Gene: PPP2R2B

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PPP2R2B-related neurodevelopmental disorder are limited, monoallelic_autosomal and loss of function (PMIDs: 25356899, 39565297). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03733.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
PPP2R2B-related neurodevelopmental disorder

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Red

Phenotypes

PPP2R2B-related neurodevelopmental disorder

OMIM

604325

Clinvar variants

Variants in PPP2R2B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PPP2R2B was added gene: PPP2R2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PPP2R2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2R2B were set to 25356899; 39565297 Phenotypes for gene: PPP2R2B were set to PPP2R2B-related neurodevelopmental disorder

DDG2P Gene: PPP2R2B