Clinical Domain Working Groups
RASopathy Variant Curation Expert PanelMembership Documents
The ClinGen RASopathy Expert Panel aims to provide high quality, standardized curation of RASopathy gene variants.
Using the recently released ACMG standards and guidelines for the interpretations of sequence variants as our foundation, we refined classification criteria to specifically apply to BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, and SOS2 relative to their pathogenicity and mechanism, and considering their allele frequency compared to the incidence of these Noonan syndrome spectrum disorders.
The RASopathy ClinGen Expert Panel aims to systematically aid in resolution of variant classification differences in ClinVar and provide further curation of the genes involved in the RASopathies.
Expert Panel Status
ClinGen's RASopathy Expert Panel consensus methods for variant interpretationpublications - March 1, 2018
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1Curation Activity Procedures - July 18, 2017
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.