Immunology CDWGExpert Panels Membership
The Immunology CDWG aims to curate and validate genes and variants associated with genetically encoded diseases of the immune system. These conditions are classified as primary immunodeficiency and immunodysregulatory diseases. Over 400 genes have been implicated in these disorders: some have been well-studied over the years while others are novel discoveries. The purpose of this CDWG is to curate clinically relevant and actionable genes and variants to facilitate dissemination to the broader medical community to enhance both patient care and scientific knowledge.
- Curate genes and gene variants associated with over 400 primary immunological disorders using the ClinGen Gene Curation Working Group gene:disease classification framework and curate variants within those genes to determine their pathogenicity
- Form new gene and variant expert panels to address other key primary immunological disease areas (e.g., humoral immunodeficiencies, innate immune defects, primary immunodysregulatory disorders, etc. covering the entire spectrum of genes listed in the International Union of Immunological Societies (IUIS) classification of inborn errors of immunity, which have not been previously curated from an immunological perspective)
- Identify and recruit Immunology and Genetics experts who are committed to participate in the proposed GCEPs/VCEPs
- Publish and disseminate gene and variant curation results to the public
Membership spans many fields, including genetics, medical, academia, and industry.