Clinical Domain Working Groups

The Somatic Mosaicism of Vascular Anomalies GCEP's initial focus will be on a subset of genes that have characteristic somatic alterations that result in vascular anomalies. The focused gene list includes: PIK3CA, PIK3R1, RASA1, TEK, AKT1, HRAS, KRAS, NRAS, BRAF, GNA11, GNA14, GNAQ, MAP2K1 and MAP3K3. While some of these genes have been curated relative to other diseases (e.g. PIK3CA- Brain malformations GCEP, Hereditary Cancer GCEP, Breast/Ovarian Cancer GCEP; BRAF- RASopathy GCEP), these genes are crucial contributors to vascular anomalies, a disease-type at risk for ascertainment bias due to variability in presentation. Thus, through the inclusion of these genes, we are thereby extending on knowledge of disease-phenotype relationships.