FIGURE 1.

Main genes recommended to be included in genetic testing of pulmonary arterial hypertension (PAH) patients and their relatives. The underlined genes are the genes which should definitely be included in the PAH gene panel. The other genes may be included but results should be interpreted with caution as they await further supporting evidence. ^#: genes associated with hereditary haemorrhagic telangiectasia (Osler–Weber–Rendu disease); ^¶: gene associated with pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis; ⁺: genes associated with lung development abnormalities. BMP: bone morphogenetic protein; TGF: transforming growth factor. Protein symbols/names/aliases are given in brackets.