Learn more about SETBP1 and connect with other Simons Searchlight families with the resources below.

Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Building off the last report, the team used the Quality of Life Inventory to ask caregivers to describe how their family member with SETBP1 responds to life experiences. This survey and other important tasks are located on your dashboard. Participating in surveys is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”

Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.


Support Resources



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 SETBP1 halpoinsufficiency disorder.



Simons Searchlight Family & Research Conference 2020 SETBP1 Virtual Conference

  General Session 1

  General Session 2

  SETBP1 2019 Virtual Family Meeting Presentations Included:

  • “SETBP1 Overview” – Dr. Wendy Chung
  • “Childhood Apraxia of Speech and Other Communication Disorders in SETBP1” – Nancy Kaufman, MA, CCC-SLP
  • “Speech and Language Abilities in Individuals with SETBP1 Loss of Function Variants” – Prof. Angela Morgan, PhD
  • Q&A Sessions

  SETBP1 2018 Virtual Family Meeting Presentations Included:

  • “SETBP1 Overview”- Dr. Wendy Chung
  • “SETBP1 and Schinzel Geidion Syndrome” – Dr. Wendy Chung
  • “Medical Management of Neurodevelopmental Concerns in SETBP1 Dirosder” – Dr. Siddharth Srivastiva
  • Q&A Session


Research Article Summaries

Below, we have summarized research articles about changes in the SETBP1 gene. We hope you find this information helpful. The information available about SETBP1 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 SETBP1 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

  • Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies Original research article by R. Acuna-Hidalgo et al. (2017). Read the abstract here and the Simons Searchlight summary here.
  • Refining analyses of copy number variation identifies specific genes associated with developmental delay Original research article by B.P. Coe et al. (2014). Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

  • Simons Searchlight Help the Simons Searchlight team learn more about SETBP1 genetic changes by taking part in our research. You can learn more about the project and sign up here.
  • TIGER Study The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in SETBP1. Click here to learn more about this opportunity.

Family Stories

Stories from SETBP1 families:

Click here to share your family’s story!