Gene name | Chromosomal locus | Protein | Disease | No. reported mutations | Transcript size | Exons |
---|---|---|---|---|---|---|
FBN1 | 15q21.1 | Fibrillin | Marfan syndrome | 601 | 8616 bp | 66 |
TGFÎ’R1 | 9q33-q34 | Transforming growth factor, beta receptor 1 | Loeys-Dietz syndrome; Marfan-like syndrome | 28a | 1512 bp | 9 |
TGFÎ’R2 | 3p22 | Transforming growth factor, beta receptor 2 | Loeys-Dietz syndrome; Marfan-like syndrome | 105a | 1779 bp | 7 |
COL3A1 | 2q31 | Collagen type III alpha 1 | Ehlers Danlos Type IV | 227 | 4401 bp | 51 |
MYH11 | 16p13.13-p13.12 | Myosin heavy chain 11 | TAADb-patent ductus arteriosus | 3 | 5919 bp | 41 |
ACTA2 | 10q22-q24 | smooth muscle actin, alpha 2 | TAAD4 syndrome | 19 | 1134 bp | 9 |
SLC2A10 | 20q13.1 | solute carrier family 2 (facilitated glucose transporter), member 10 | Arterial Tortuosity syndrome | 18 | 1626 bp | 5 |
NOTCH1 | 9q34.3 | Notch homolog 1, translocation-associated | BAV-TAAD syndrome | 11 | 7668 bp | 34 |
FBN2 | 5q23-q31 | Fibrillin 2 | BAV-TAAD syndrome | 45 | 8739 bp | 71 |