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).
| General ClinGen Gene Curation Standard Operating Procedures | View |
| Name | Role |
|---|---|
| Julie De Backer, MD, PhD | Executive Leadership |
| Harry Dietz, MD | Executive Committee |
| Bart Loeys, MD | Executive Committee |
| Dianna Milewicz, MD, PhD | Executive Committee |
| Marjolijn Renard, MSc, PhD | Executive Committee |
| C. Lisa Kurtz, PhD | Coordinator |
| Lesley Ades, MD, HGSA, FRACP | Member |
| Gregor Andelfinger, MD, PhD | Member |
| Pauline Arnaud | Member |
| Catherine Boileau, PhD | Member |
| Bert Callewaert, MD, PhD | Member |
| Catherine Fletcher-Francis, PhD | Member |
| Rajarshi Ghosh, PhD | Member |
| Dongchuan Guo, PhD | Member |
| Nadine Hanna | Member |
| Mark Lindsay, MD, PhD | Member |
| Takayuki Morisaki, MD, PhD | Member |
| Hiroko Morisaki, MD, PhD | Member |
| Nicholas Pachter MBChB | Member |
| Leema Robert, MD | Member |
| Alan Scott, PhD | Member |
| Dane Witmer, MS, PhD | Member |
Please contact a coordinator if you have questions.
C. Lisa Kurtz, PhD
lisa_kurtz@med.unc.edu
C. Lisa Kurtz, PhD
lisa_kurtz@med.unc.edu
A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.
