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.
|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|
|Martin Zenker, MD||Member|
|Marco Tartaglia, PhD||Member|
|Kathryn Garber, PhD||Member|
|Bradley Williams, MS, CGC||Member|
Please contact a coordinator if you have questions.
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.