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Below is a summary for the SETD5 gene observed in research publications. This is not meant to take the place of medical advice.
Click here for our full SETD5 Gene Guide
The online Gene Guide includes more information about SETD5 such as the chance of having another child with this condition, behavior and development concerns linked to SETD5-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 SETD5-related syndrome?
SETD5-related syndrome happens when there are changes to the SETD5 gene. These changes can keep the gene from working as it should.
Key Role
The SETD5 gene plays a key role in controlling other genes.
Symptoms
Many people who have SETD5-related syndrome have:
- Intellectual disability
- Language delay
- Differences in facial features
How many people have SETD5-related syndrome?
As of 2019, about 21 people in the world with changes in the SETD5 gene had been described in the medical literature. The first case of SETD5-related syndrome was described in 2014. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Support Resources
- Simons Searchlight Community – SETD5 Facebook group
- Unique – SETD5 Guidebook
- Geisinger Developmental Brain Disorder Gene Database – SETD5
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.
There is currently no GeneReviews for SETD5.
Research Article Summaries
Below, we have summarized research articles about changes in the SETD5 gene. We hope you find this information helpful.
The information available about SETD5 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 SETD5 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
Original research article by A. Kuechler et al. (2015).
Read the article here and the Simons Searchlight summary here.
Synaptic, transcriptional and chromatin genes disrupted in autism
Original research article by S. De Rubeis et al. (2014).
Read the article here and the Simons Searchlight summary here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about SETD5 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.
Family Stories
Previous Quarterly Reports