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

Click here for our full RALGAPB Gene Guide

The online Gene Guide includes more information about RALGAPB such as the chance of having another child with this condition, behavior and development concerns linked to RALGAPB-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is RALGAPB-related syndrome?

You are receiving this information because you or your child has a change in a newly discovered autism gene, RALGAPB.

Changes in the RALGAPB gene are linked to intellectual disability and autism. Because RALGAPB is so new in autism, we don’t have specific information on what medical issues you might expect now and in the near future. We can tell you that RALGAPB plays an important role in brain development and is associated with autism. The gene is also likely associated with language and learning.

You, or your family member, are one of what may be a very small number of people in the world with autism who have a change in the RALGAPB gene. Scientists expect to find more people who have changes in RALGAPB as access to genetic testing improves.

Key Role

Changes in the RALGAPB gene are linked to intellectual disability and autism.

How many people have a de novo gene change in RALGAPB?

As of 2021, about five people in the world with changes in the RALGAPB gene have been described in medical research.

The first case of this condition was described in 2013. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Learn more about the RALGAPB gene and connect with other Simons Searchlight families with the resources below:


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.

There are currently no GeneReviews for RALGAPB.


Research Article Summaries

We currently do not have any article summaries for RALGAPB, but we add resources to our website as they become available.

The information available about RALGAPB is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

  • Shah AA. et al. European Journal of Medical Genetics, 63, 104041, (2020). Excess of RALGAPB de novo variants in neurodevelopmental disorders, pubmed.ncbi.nlm.nih.gov/32853829/.
  • Epi4K Consortium. et al. Nature, 501, 217-221, (2013). De novo mutations in epileptic encephalopathies, pubmed.ncbi.nlm.nih.gov/23934111/.
  • Feliciano P. et al. NPJ Genomic Medicine, 4, 19, (2019). Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes, pubmed.ncbi.nlm.nih.gov/31452935/.

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 RALGAPB articles can be found here.

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


Research Opportunities

Simons Searchlight

Help the Simons Searchlight  team learn more about RALGAPB 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 RALGAPB families.

Click here to share your family’s story!