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  2. Early onset or syndromic epilepsy
  3. PPP2R5C
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Early onset or syndromic epilepsy

Gene: PPP2R5C

Green List (high evidence)
PPP2R5C (protein phosphatase 2 regulatory subunit B'gamma)
EnsemblGeneIds (GRCh38): ENSG00000078304
EnsemblGeneIds (GRCh37): ENSG00000078304
OMIM: 601645, Gene2Phenotype
PPP2R5C is in 3 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: 39696819 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: 3 Mar 2025, 3:16 p.m. | Last Modified: 3 Mar 2025, 3:16 p.m.
Panel Version: 7.45
PMIDs 25972378; 39696819; 39978342 report twenty one PPP2R5C variants in 30 unrelated individuals with macrocephaly, intellectual disability, seizures and hypotonia (PMIDs 39696819 table 1 & 39978342 table 1 ). Most of these heterozygous variants were de novo (there was one case where this could not be established, PMID: 39696819).
Sources: Literature
Created: 3 Mar 2025, 3:08 p.m. | Last Modified: 3 Mar 2025, 3:13 p.m.
Panel Version: 7.44

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

Phenotypes
neurodevelopmental disorder

Publications

Created: 3 Mar 2025, 3:08 p.m.
Last Modified: 3 Mar 2025, 3:13 p.m.
Panel version: 7.44

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Houge-Janssens syndrome 4, OMIM:621185
OMIM
601645
Clinvar variants
Variants in PPP2R5C
Penetrance
None
Publications
Panels with this gene

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: PPP2R5C.

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 PPP2R5C. Source Expert Review Green was added to PPP2R5C. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

16 Dec 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PPP2R5C were changed from neurodevelopmental disorder to Houge-Janssens syndrome 4, OMIM:621185

3 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).

3 Mar 2025, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PPP2R5C were set to 25972378; 39696819; 39978342

3 Mar 2025, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PPP2R5C were set to 25972378; 39500882; 39978342

3 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: PPP2R5C was added gene: PPP2R5C was added to Early onset or syndromic epilepsy. Sources: Literature Q1_25_ promote_green tags were added to gene: PPP2R5C. Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2R5C were set to 25972378; 39500882; 39978342 Phenotypes for gene: PPP2R5C were set to neurodevelopmental disorder Review for gene: PPP2R5C was set to GREEN