RASopathy CDWGExpert Panels Documents Membership
The ClinGen RASopathy CDWG established an expert panel (EP) to curate gene information and generate gene and disease-specific specifications to ACMG-AMP variant classification framework.
Goals of the RASopathy CDWG include:
- Refine ACMG classification criteria to specifically apply to BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, and SOS2
- Assess and curate disorder prevalence, gene contributions to disease, disease mechanisms, dosage sensitivity scores, functional domains, and pathogenic “hot-spots”
- Designate appropriate functional assays, animal models, and somatic mutation correlations.
- Assess reliability of refined criteria
To learn more about our gene and variant curation efforts, please click on the links below.
Membership spans many fields, including genetics, medical, academia, and industry.