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Intellectual disability
Gene: PPP2R2B

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

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: The PPP2R2B_CAG variant is associated with Spinocerebellar ataxia 12, OMIM:604326
Created: 19 Mar 2025, 11:58 a.m. | Last Modified: 19 Mar 2025, 11:58 a.m.

Panel Version: 8.158

Comment on publications: PMID: 39565297 was 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, 11:56 a.m. | Last Modified: 19 Mar 2025, 11:56 a.m.

Panel Version: 8.157

PMID: 39565297 reports five PPP2R2B missense variants in five unrelated cases with a neurodevelopmental syndrome. Detailed clinical data was available for four of these cases, all of which had developmental delay, epilepsy and moderate to severe intellectual disability. Four of the PPP2R2B variants were confirmed as de novo. Patient 4 (in PMID: 39565297) also carried a RNU4-2 variant, which may have contributed to his phenotype.
Functional studies suggested that the PPP2R2B variants contributed to deregulation of mitochondrial dynamics (PMID: 39565297).
Created: 19 Mar 2025, 11:52 a.m. | Last Modified: 19 Mar 2025, 11:52 a.m.

Panel Version: 8.156

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental syndrome

Publications

Created: 19 Mar 2025, 11:51 a.m.
Last Modified: 19 Mar 2025, 11:51 a.m.
Panel version: 8.156

Arina Puzriakova (Genomics England Curator)

- PMID: 25356899 (2014) - missense variant (c.413G>C, p.Arg138Pro) in the PPP2R2B gene identified in a 7-year-old boy with moderate ID, intractable seizures and autistic features. Otherwise limited information provided.

Comment on publications: PMID: 25356899 was 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: 1 Mar 2024, 4:56 p.m. | Last Modified: 1 Mar 2024, 4:56 p.m.

Panel Version: 5.483

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: 3.1447

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

25356899

Created: 10 Nov 2021, 5:51 p.m.
Last Modified: 10 Nov 2021, 5:51 p.m.
Panel version: 5.483

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_movement;in_movement_disorder_list;in_UKGTN_v12 . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:07 p.m.

Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_movement; manju_list; UKGTN_v12; Nijmegen_ID_candidates; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:10 p.m.

Mode of inheritance
Unknown

Publications

omim.org
Personal communication with NIHRBRRD BRIDGE SPEED
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 9:48 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Phenotype not relevant to ID panel, gene involved in movement disorders. Add tag currently-ngs-unreportable; nucleotide-repeat-expansion; watchlist
Created: 29 Nov 2017, 2:10 p.m.

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 1:20 p.m.

Created: 20 Jul 2017, 1:20 p.m.

Panel version: 1.465

Details

Mode of Inheritance

Other

Sources

Expert Review Amber

Phenotypes

neurodevelopmental syndrome

Tags

Q1_25_ promote_green

OMIM

604325

Clinvar variants

Variants in PPP2R2B

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

19 Mar 2025, Gel status: 2

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for gene: PPP2R2B was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

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 Phenotypes

Sarah Leigh (Genomics England Curator)

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

19 Mar 2025, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PPP2R2B were set to 25356899

19 Mar 2025, Gel status: 1

Removed Tag, Removed Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag nucleotide-repeat-expansion was removed from gene: PPP2R2B. Tag currently-ngs-unreportable was removed from gene: PPP2R2B. Tag Q1_25_ promote_green tag was added to gene: PPP2R2B.

1 Mar 2024, Gel status: 1