RASopathies Expert Panel

Clinical Domain Working Groups(CDWG)

RASopathies Expert Panel Goals:

  • 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 
  • Submit expert reviewed variant interpretations to ClinVar