PPP2R5C
Below is a summary for the PPP2R5C gene observed in research publications. This is not meant to take the place of medical advice.
Click here for our full PPP2R5C Gene Guide
The online Gene Guide includes more information about PPP2R5C such as the chance of having another child with this condition, behavior and development concerns linked to PPP2R5C or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is PPP2R5C-related syndrome?
PPP2R5C-related syndrome happens when there are changes in the PPP2R5C gene. These changes can keep the gene from working as it should.
Key Role
The PPP2R5C gene plays an important role in the development and function of brain cells.
Symptoms
Because the PPP2R5C gene is important for the brain, people who have PPP2R5C-related syndrome might have:
- Intellectual disability
How many people have PPP2R5C-related syndrome?
As of 2024, at least 2 people with PPP2R5C-related syndrome have been identified in a medical clinic.
Learn more about the PPP2R5C gene and connect with other Simons Searchlight families with the resources below:
Support Resources GeneReviews GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care. There are currently no GeneReviews for PPP2R5C. Research Articles and References Below, we have summarized research articles about changes in the PPP2R5C gene. We hope you find this information helpful. The information available about PPP2R5C is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow. Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for PPP2R5C articles can be found here. Research Opportunities Simons Searchlight Help the Simons Searchlight team learn more about PPP2R5C genetic changes by taking part in our research. You can learn more about the project and sign up here. Family Stories We do not currently have any stories from PPP2R5C families. Click here to share your family’s story!