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