Clinical Domain Working Groups
RASopathy Gene Curation Expert Panel
Membership DocumentsThe ClinGen RASopathy Expert Panel seeks to evaluate the current evidence for each gene-condition assertion in order to provide a comprehensive review of Ras/MAPK pathway genes and their causality of a RASopathy condition.
Genes curated A2ML1 (MIM# 610627), BRAF (MIM# 164757), HRAS (MIM# 190020), KRAS (MIM# 190070), LZTR1 (MIM# 600574), MAP2K1 (MIM# 176872), MAP2K2 (MIM# 601263), MRAS (MIM# 608435), NRAS (MIM# 164790), PPP1CB (MIM# 600590), PTPN11 (MIM# 176876), RAF1(MIM# 164760), RASA1(MIM# 139150), RASA2 (MIM# 601589), RIT1 (MIM# 609591), RRAS (MIM# 165090), SHOC2 (MIM# 602775), SOS1 (MIM# 182530), and SOS2 (MIM# 601247).
Expert Panel Status - Approved Expert Panel
Documents
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.
Marco Tartaglia PhD
Coordinators
Hannah Dziadzio, BA
Hélène Cavé PharmD, PhD
Marina DiStefano PhD, FACMG
Bruce Gelb MD
Shoji Ichikawa PhD
Jennifer Lee PhD, FACMG
Lisa Vincent PhD, FACMG
Bradley Williams, MGC
Chairs
Coordinators
Please contact a coordinator if you have questions.