The Brain Gene Registry

The Brain Gene Registry pairs clinical genetic data with phenotypic data from individuals with variants in brain genes to accelerate research on neurodevelopmental disorders.

Key Features:

• Phenotypic Data Integration: Phenotypic profiles are assembled from electronic health records and the Rapid Neurobehavioral Assessment Protocol, which includes cognitive, neurologic, and neuropsychiatric assessments, as well as assessments for attention deficit hyperactivity disorder and autism spectrum disorder.
• ClinGen Integration: Co-enrollment of participants in the Clinical Genome Resource's GenomeConnect enables display of variant information in ClinVar.
• Gene-Disease Curation Support: Registry data accelerates gene-disease validity curation by ClinGen's BGR Intellectual Disability-Autism Gene Curation Expert Panel.
• Variant Characteristics: The registry captures de novo variants and variants of uncertain significance, with over 200 genes represented including CACNA1A, DNMT3A, SLC6A1, SETD5, and MYT1L.

Scientific Applications:

• Neurodevelopmental Disorder Research: The registry supports translational research on brain genes and neurodevelopmental disorders by providing a centralized resource for data sharing and analysis.
• Gene-Disease Relationship Discovery: The resource addresses the lack of data necessary to infer causal relationships between genetic variants and particular neurodevelopmental disorders.
• Clinical Phenotype Characterization: Electronic health record data reveal developmental patterns, with developmental delay as the earliest and most common diagnosis, followed by speech and language disorders, autism spectrum disorder, and attention deficit hyperactivity disorder.

Methodology:

Clinical genetic data is paired with phenotypic data from participants with variants in putative brain genes; phenotypic profiles are assembled from electronic health records and remotely administered standardized assessments.