Gene List:
ABCC6, ACTA2, ADAMTS2, ALDH18A1, B3GAT3, BGN, CBS, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FOXE3, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
References:
Pinard A, et al. Genetics of Thoracic and Abdominal Aortic Diseases. Circulation Research. 2019 Feb;124:588–606.
Overwater E, et al. Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. Hum Mutat. 2018 Sep; 39(9): 1173–1192.