Clinical Domain Working Groups

RASopathy CDWG

Expert 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.

Expert Panels

Chairs

Coordinators
Please contact a coordinator if you have questions.