Clinical Domain Working Groups
RASopathy Gene Curation Expert PanelMembership Documents
The genes of focus are: BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, and SOS2
Primary curation is completed by the RASopathy gene curators listed below.
Final classifications are approved by the RASopathy CDWG members.
Expert Panel Status - Approved Expert Panel
Gene-Disease Validity Standard Operating Procedures, Version 6Curation Activity Procedures - August 29, 2018
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.