Who can contribute data to the registry

At this time, only investigators from the 13 approved recruitment sites may upload data to the registry. Clinicians, researchers, and individuals who wish to submit data on an eligible variant are encouraged to contact the lead investigators braingeneregistry@harvard.edu. for more information.

How were these genes selected?

These 55 genes were curated from a larger list of approximately 900 genes suspected to have some role in brain development. We selected genes with variants currently classified as VUS, likely pathogenic and pathogenic. By contributing additional neurobehavioral phenotype data on individuals with variants in these genes, we hope to accelerate the gene curation process to more definitively establish which genes likely do or do not contribute to the development of intellectual disability or autism spectrum disorder.

Where can I learn more about the genes in this registry

Please visit https://www.omim.org/about to learn more about what is known about each of the genes we are studying.

What information is available to query?

For a given gene, investigators will be able to see how many records for that particular gene variant are available to query, and which types of data are available for each participant. For a given participant, investigators will be able access selected elements extracted from the electronic health record, standardized neuropsychological assessment data, previous psychological or education testing records, photographs and video recordings, and genomic data. The data available for each participant may vary.

How to submit a data query request

Investigators wishing to search the data commons for a gene of interest will need to sign data use agreement with Washington University in St. Louis and submit it to braingeneregistry@childrens.harvard.edu. Approved investigators will be contacted within 7-10 business days with instructions for accessing the registry.

How often is the registry updated?

The registry will be update quarterly.