GRIN1

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 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.

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

Do people who have GRIN1-related syndrome look different?

People who have GRIN1-related syndrome do not look different.

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.

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Support Resources

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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.

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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.

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Family Stories

Stories from GRIN1 families:

Click here to share your family’s story!