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