Clinical Domain Working Groups
Heritable Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel Inactive
Membership DocumentsThis Expert Panel is currently inactive. Click here to learn about this designation.
The Heritable Thoracic Aortic Aneurysm and Dissection (HTAAD) GCEP was formed in 2015, and their initial scope of work included 53 genes thought to be associated with familial thoracic aortic aneurysm and dissection. The group completed evaluation of these genes in 2017, and their findings are described in Renard et al. 2018 (PMID: 30071989). The Hereditary Cardiovascular Diseases GCEP now re-evaluates these curations on a periodic basis, as described in the ClinGen recuration procedure. Inactive date - 4/28/22
Expert Panel Status - Approved Expert Panel
Documents
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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.
Julie De Backer, MD, PhD
Harry Dietz, MD
Bart Loeys, MD, PhD
Dianna Milewicz, MD, PhD
Marjolijn Renard, MSc, PhD
Lesley Ades, MD, HGSA, FRACP
Gregor Andelfinger, MD, PhD
Pauline Arnaud, PhD
Catherine Boileau, PhD
Bert Callewaert, MD, PhD
Rajarshi Ghosh, PhD, FACMG
Dongchuan Guo, PhD
Mark Lindsay, MD, PhD
Takayuki Morisaki, MD, PhD
Hiroko Morisaki, MD, PhD
Nicholas Pachter MBChB
Leema Robert, MD, PhD
Alan Scott, PhD