The National Brain Gene Registry (BGR) has partnered with ClinGen to establish a new Intellectual Disability (ID) / Autism Curation Expert Panel (GCEP) Team. This group will accelerate the curation of genes implicated in ID /autism.
ClinGen’s GCEPs systematically evaluate the strength of evidence supporting or refuting a claim that a particular gene is implicated in human disease – in this case ID/ autism – using a standardized framework.
One of the challenges in the gene curation process is that information used for scoring evidence is largely limited to what is published in the medical literature. The BGR-ClinGen collaboration harnesses the power of clinically – acquired genotypic and phenotypic data, together with standardised neurobehavioral testing, for the purposes of advanced gene curation.
Our new GCEP team, chaired by Dr. Maya Chopra (Genomic Medicine Lead, BGR) consists of nominated experts and biocurators from each of the 13 participating institutions. Supported by ClinGen’s GCEP co-ordinators, we meet regularly to curate genes implicated in ID/ autism, and this process is deeply enriched by information from the BGR.