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:
To learn more about our gene and variant curation efforts, please click on the links below.
|RASopathy Gene Curation Committee||Status -|
|RASopathy Variant Curation Expert Panel||Status - Step 4|
|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|
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.
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.