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

Gene: PPP2R5C

Amber List (moderate evidence)
PPP2R5C (protein phosphatase 2 regulatory subunit B'gamma)
EnsemblGeneIds (GRCh38): ENSG00000078304
EnsemblGeneIds (GRCh37): ENSG00000078304
OMIM: 601645, Gene2Phenotype
PPP2R5C is in 3 panels

1 review

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 Amber
  • Literature
Phenotypes
  • Houge-Janssens syndrome 4, OMIM:621185
Tags
Q1_25_ promote_green
OMIM
601645
Clinvar variants
Variants in PPP2R5C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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