RASopathy Gene Curation Committee


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 Status - Approved Expert Panel

Step 1
Step 2
Define Group
Complete
Expert Panel Approval
Complete

Leadership

Lisa Vincent, PhD

Bruce Gelb, MD


Coordinators

Please contact a coordinator if you have questions.

Danielle Azzariti, MS, CGC
dazzariti@partners.org


Membership

13 members contribute to the RASopathy GCC. All Members
What is GENE CURATION?

A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.