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  3. PPP2R5C
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DDG2P

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PPP2R5C-related neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures are moderate, monoallelic_autosomal and undetermined non-loss-of-function (PMID:39978342). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03721.
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
PPP2R5C-related neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures; MONDO:0100038

Publications

Mode of pathogenicity
Other

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 Green
Phenotypes
  • PPP2R5C-related neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures
  • MONDO:0100038
OMIM
601645
Clinvar variants
Variants in PPP2R5C
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PPP2R5C was added gene: PPP2R5C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2R5C were set to 39978342 Phenotypes for gene: PPP2R5C were set to PPP2R5C-related neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures; MONDO:0100038 Mode of pathogenicity for gene: PPP2R5C was set to Other