List of diseases covered by
Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes
NGS panel
Gene | Condition |
ACTA2 | Aortic aneurysm, familial thoracic 6; Moyamoya disease 5; Multisystemic smooth muscle dysfunction syndrome |
BGN | Meester-Loeys syndrome; Spondyloepimetaphyseal dysplasia, X-linked |
COL3A1 | Ehlers-Danlos syndrome, vascular type |
COL5A1 | Ehlers-Danlos syndrome, classic type, 1 |
FBN1 | Marfan syndrome; Marfan lipodystrophy syndrome; MASS syndrome; Acromicric dysplasia; Ectopia lentis, familial; Geleophysic dysplasia 2; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant |
LOX | Aortic aneurysm, familial thoracic 10 |
MFAP5 | Aortic aneurysm, familial thoracic 9 |
MYH11 | Aortic aneurysm, familial thoracic 4 |
MYLK | Aortic aneurysm, familial thoracic 7 |
NOTCH1 | Aortic valve disease 1; Adams-Oliver syndrome 5 |
PRKG1 | Aortic aneurysm, familial thoracic 8 |
TGFB2 | Loeys-Dietz syndrome 4 |
TGFB3 | Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5 |
TGFBR1 | Loeys-Dietz syndrome 1 |
TGFBR2 | Loeys-Dietz syndrome 2 |