Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel


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 Status - Approved Expert Panel

Step 1
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Define Group
Complete
Expert Panel Approval
Complete

Leadership

Julie De Backer, MD, PhD


Coordinators

Please contact a coordinator if you have questions.

C. Lisa Kurtz, PhD
lisa_kurtz@med.unc.edu


Membership

22 members contribute to the Familial Thoracic Aortic Aneurysm & Dissection Gene EP. 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.