Brain Gene Registry participation is open to anyone who has had genetic testing showing a change in any gene thought to affect some aspect of brain development. There is no age limit.
We are prioritizing recruitment for individuals with variants in our current genes of interest. Most of these genes are suspected but not yet definitively proven to be involved in neurodevelopment. They have been selected from the set of approximately 900 genes which are currently included on commercial gene panels for intellectual disability / autism across the country. The BCH/Harvard team is in the lead of the selection process in collaboration with participating sites and ClinGen. The gene set is continuously evaluated and adjusted on a quarterly basis. New gene submissions are welcome for evaluation.
For each participant, results of the genetic test results will be co-registered with standardized neurobehavioral testing and information from the electronic health record. By cross-referencing one with the other, we will accelerate the gene curation process, and more clearly establish which genes likely do or do not contribute to the development of intellectual disability and /or autism. We hope that identifying the genetic basis of these conditions will be the first step in developing transformative treatments.
Learn More About Our Current Genes of Interest
Please flip a gene card and click on “view curation status” to link to the ClinGen page for that gene. On the gene’s ClinGen page, you will see the current curation status and you can learn more about the gene by clicking on “View Gene Facts”
Genes with strong or definitive level of evidence for a role in ID/ autism
Genes with disputed, limited, or moderate level of evidence for a role ID/ autism
Genes which have not yet been curated for ID/autism