Clinical Domain Working Groups

RASopathy Gene Curation Expert Panel

Membership Documents

The 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

Step 1
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Define Group
Complete
Expert Panel Approval
Completed
Chairs

Coordinators
Please contact a coordinator if you have questions.