Research panel - Severe Paediatric Disorders
Gene: PPP3CA

PPP3CA (protein phosphatase 3 catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000138814
EnsemblGeneIds (GRCh37): ENSG00000138814
OMIM: 114105, Gene2Phenotype
PPP3CA is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PPP3CA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265 (3) | Epileptic encephalopathy, infantile or early childhood, 1, 617711 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:24 p.m.
Last Modified: 20 Feb 2020, 5:24 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265
Epileptic encephalopathy, infantile or early childhood, 1, 617711

OMIM

114105

Clinvar variants

Variants in PPP3CA

Penetrance

None

Publications

30847515

Panels with this gene