With increasing use of next generation sequencing, hundreds of genes have been implicated in neurodevelopmental disorders, but the level of evidence for each gene in causing the condition is variable. ClinGen is an NIH-funded resource dedicated to the important task of gene curation, defining the relevance of genes and variants in a range of diseases (https://clinicalgenome.org/), .
The Brain Gene Registry team is partnering with ClinGen to evaluate the evidence for a relationship between proposed brain genes and neurodevelopment. To achieve this goal, we have launched a new ID/Autism ClinGen Gene Curation Expert Panel (https://clinicalgenome.org/affiliation/40006/). In this panel, experts from participating BGR sites we will evaluate the evidence for the gene-disease relationship for proposed brain genes. The standardised ClinGen framework will be used, and the curation process will be enriched with information gathered from BGR participants.