TABLE 1

Genes causing heritable pulmonary arterial hypertension (PAH). Reproduced from [8] with permission

Gene	Evidence level
BMPR2^#	High
EIF2AK4^¶	High
ACVRL1⁺, AQP1⁺, ATP1A3⁺, CAV1⁺, ENG⁺, GDF2⁺, KCNK3⁺, SMAD9⁺, SOX17⁺, TBX4⁺	High
ALK6, KLF2, KCNKA5, SMAD1, SMAD4	Low
ABCC8, BMP10, CD248, EFCAB4B, KDR, NOTCH3, TET2	Recently identified

^#: familial PAH (53–86%), sporadic PAH (14–35%); ^¶: familial pulmonary veno-occlusive disease (PVOD)/pulmonary capillary haemangiomatosis (PCH) (∼100%); ⁺: other genes (<1.5% of sporadic PAH).