RASopathy Clinical Domain Working Group


The ClinGen RASopathy CDWG established an expert panel (EP) to curate gene information and generate gene and disease-specific specifications to ACMG-AMP variant classification framework. 

Goals of the RASopathy CDWG include:

  • Refine ACMG classification criteria to specifically apply to BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, and SOS2 
  • Assess and curate disorder prevalence, gene contributions to disease, disease mechanisms, dosage sensitivity scores, functional domains, and pathogenic “hot-spots”
  • Designate appropriate functional assays, animal models, and somatic mutation correlations.
  • Assess reliability of refined criteria 

To learn more about our gene and variant curation efforts, please click on the links below.



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 CDWG. 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.


What is VARIANT CURATION?

A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.