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.
|Lisa Vincent, PhD||Executive Leadership|
|Bruce Gelb, MD||Executive Leadership|
|Danielle Azzariti, MS, CGC||Coordinator|
|Hélène Cavé, PharmD, PhD||Member|
|Mitchell Dillon, MS, CGC||Member|
|Karen Gripp, MD||Member|
|Jennifer A. Lee, PhD||Member|
|Heather Mason-Suares PhD||Member|
|Katherine Rauen, MD, PhD||Member|
|Bradley Williams, MS, CGC||Member|
|Martin Zenker, MD||Member|
|Marco Tartaglia, PhD||Member|
|Kathryn Garber, PhD||Member|
Please contact a coordinator if you have questions.
A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.