Clinical Domain Working Groups
Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert PanelMembership Documents
The aortopathy group used the ClinGen gene:disease clinical validity framework to assess the strength of evidence for genes implicated to be involved in Familial Thoracic Aortic Aneurysm and Dissection. The group consisted of clinical domain experts in 5 different countries from academic centers with a major interest in genetic aortic disease, and included both clinical experts and molecular geneticists.
The 53 member gene list was generated based on literature, as well as on lists of currently commercially available aortic disease gene panels. The disease predisposition for the majority of the curated genes is inherited in an autosomal dominant manner (n = 37), but also includes 5 genes with X-linked recessive inheritance (BGN, COL4A5, FLNA, MED12 and UPF3B) and 11 genes with autosomal recessive inheritance (ADAMTS10, B3GAT3, CBS, COL9A1, COL9A2, COL18A1, EFEMP2, GJA1, PLOD1, PLOD3 and SLC2A10).
Expert Panel Status - Approved Expert Panel
Gene-Disease Validity Standard Operating Procedures, Version 6 (Archived)Curation Activity Procedures - August 29, 2018 Archived Document
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.