Curating the Clinical Genome 2024 ePoster Gallery-The ClinGen Syndromic Disorders Gene Curation Expert Panel

The ClinGen Syndromic Disorders Gene Curation Expert Panel

Pdf Summary

The Syndromic Disorders Gene Curation Expert Panel (SD-GCEP) was established to focus on rare multi-system syndromic disorders that impact the pediatric population significantly. By using the ClinGen framework, the panel aims to evaluate gene-disease relationships and curate genes related to these complex conditions. A total of 112 gene-disease curations have been completed, with a focus on genes deemed to have the highest impact and relevance. The SD-GCEP collaborates with other Expert Panels to ensure thorough reviews and exchange of gene-disease relationships. The panel is comprised of 27 experts and 25 biocurators from 22 organizations spanning 6 continents. Prioritization for curation includes frequently tested gene-disease pairs, those from clinical genome sequencing, new discoveries, and requested phenotypes from other panels. The work of the SD-GCEP emphasizes the need for comprehensive gene curation efforts in addressing critical gaps in understanding genetic syndromes and contributing to the evolving landscape of classified gene-disease relationships. Recurating genes not yet classified as definitive is planned, exemplifying the commitment of the panel to stay current with rapid genetic discoveries. Additional curators or experts are welcome to join the SD-GCEP by contacting the provided email address.

Keywords

Syndromic Disorders Gene Curation Expert Panel

rare multi-system syndromic disorders

pediatric population

ClinGen framework

gene-disease relationships

gene curation

biocurators

gene-disease pairs

genetic syndromes

evolving landscape

Eleanor Broeren (ebroeren@broadinstitute.org)