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Below is a summary for the GRIN1 gene observed in research publications. This is not meant to take the place of medical advice.
Click here for our full GRIN1 Gene Guide
The online Gene Guide includes more information about GRIN1 such as the chance of having another child with this condition, behavior and development concerns linked to GRIN1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
The latest Simons Searchlight report includes updated information on your genetic community and features a special spotlight on the global geographical distribution of families.
Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!
View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.
What is GRIN1-related syndrome?
GRIN1-related syndrome happens when there are changes to the GRIN1 gene. These changes can keep the gene from working as it should.
Key Role
The GRIN1 gene plays a key role in communication between brain cells, memory, and learning.
Symptoms
Because the GRIN1 gene is important in the development and function of brain cells, many people who have GRIN1-related syndrome have:
- Intellectual disability
- Developmental delay
- Seizures
- Low muscle tone
- Movement disorders
How many people have GRIN1-related syndrome?
As of 2021, about 72 people in the world with changes in the GRIN1 gene had been described in medical research.
Support Resources
- Simons Searchlight Community – GRIN1 Facebook group
- CureGRIN Foundation
- GRIN Europe
GeneReviews
GeneReviews are a great resources 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 GRIN1.
Research Article Summaries
We currently do not have any article summaries for GRIN1, but we add resources to our website as they become available.
The information available about GRIN1 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 GRIN1 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 GRIN1 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.