GNB1

The information for this summary of GNB1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our GNB1 Gene Guide

The online Gene Guide includes more information about GNB1 such as the chance of having another child with this condition, behavior and development concerns linked to GNB1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

GNB1-related syndrome is also called intellectual developmental disorder, autosomal dominant 42, or GNB1 encephalopathy (GNB1-E). For this webpage, we will be using the name GNB1-related syndrome to encompass the wide range of variants observed in the people identified. 

What is GNB1-related syndrome?

GNB1-related syndrome is caused by changes in the GNB1 gene. These changes can keep the gene from working as it should. 

Key Role

GNB1 plays a key role in cell communication and is important for early development, learning, memory, and other cell activities. 

Symptoms

Because the GNB1 gene is important for brain activity, many people who have GNB1-related syndrome have: 

  • Developmental delay 
  • Intellectual disability 
  • Low muscle tone, also called hypotonia 
  • Brain disorders 
  • Seizures 
  • Movement issues 
  • Vision issues 
  • Poor overall growth

How many people have GNB1-related syndrome?

As of 2024, over 73 people with GNB1-related syndrome have been identified in a medical clinic. 

Learn more about GNB1 and connect with other Simons Searchlight families with the resources below.

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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 GNB1 Encephalopathy.

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Research Article Summaries

We currently do not have any article summaries for GNB1, but we add resources to our website as they become available.

The information available about GNB1 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.

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 GNB1 articles can be found here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about GNB1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

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Family Stories

We do not currently have any stories from GNB1 families.

Click here to share your family’s story!