PPP2R5D

Below is a summary for the PPP2R5D gene observed in research publications. This is not meant to take the place of medical advice.

To view the latest quarterly registry report, updated March 2021, with updated data on Simons Searchlight PPP2R5D participants, click HEREIf you want to be included in future reports, join Simons Searchlight today!

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Support Resources

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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.

Check out the GeneReviews for PPP2R5D.

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Research Article Summaries

Below, we have summarized research articles about changes in the PPP2R5D gene. We hope you find this information helpful.

The information available about PPP2R5D 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 PPP2R5D articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

 

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

Original research article by L. Shang et al. (2016)

Read the abstract here and the Simons Searchlight summary here.

 

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Original research article by G. Houge et al. (2015)

Read the abstract here and the Simons Searchlight summary here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about PPP2R5D genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

Stories from PPP2R5D families:

Click here to share your family’s story!