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 the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
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.
Do people who have de novo changes in the RALGAPB gene look different?
We do not yet know if people who have de novo changes in the RALGAPB gene look consistently different from others.
Learn more about the RALGAPB gene and connect with other Simons Searchlight families with the resources below:
- Simons Searchlight Community – RALGAPB Facebook group
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.
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.
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