The Registry

Twelve recruitment sites are currently enrolling participants from all medical specialties with eligible variants in brain genes of interest. Consenting participants will undergo a standardized, virtually administered neurocognitive assessment called the RNAP (Rapid Neurobehavioral Assessment Protocol). This neurocognitive assessment will be transferred to the registry together with genetic test results, previous neurocognitive assessment reports, and electronic health record (EHR) data.

Eligible Participant go to both IDDRC Site Enrollment & Genome Connect Enrollment which collect genetic test report, EHR extraction, RNAP & genetic variant details, health and family history which populates the Brain Gene Registry & Clinvar

In parallel, all participants will enroll in the National Institutes of Health ClinGen Patient Registry, GenomeConnect. The data from GenomeConnect will merge with the National Brain Gene Registry, to form the nation’s most comprehensive collection of brain gene information.

This information will be harnessed for the purposes of advanced gene curation. In collaboration with ClinGen, we have formed a new intellectual disability/autism Gene Curation Expert Panel Team to accelerate the evaluation of implicated genes. The curation process will be deeply enriched by data from the Brain Gene Registry.