Gene | Form of PH | Affecting children | High evidence of pathogenicity |
---|---|---|---|
ACVRL1 (ALK1) | IPAH, HPAH | ✓ | ✓ |
BMPR1B | IPAH | ✓ | |
BMPR2 | IPAH, HPAH | ✓ | ✓ |
CAV1 | IPAH, HPAH | ✓ | ✓ |
EIF2AK4 | PVOD | ✓ | ✓ |
ENG | IPAH | ✓ | |
KCNK3 | IPAH, HPAH | ✓ | ✓ |
NOTCH3 | IPAH | ✓ | |
SMAD9 | IPAH | ✓ |
High evidence of pathogenicity requires evidence for positive family segregation between genotype and phenotype or multiple reports supporting causative role in human disease together with additional evidence such as functional studies.
ACVRL1 (ALK1) activin-like kinase-type 1; BMPR1B, bone morphogenetic protein receptor 1B; BMPR2, bone morphogenetic protein receptor 2; CAV1, caveolin 1; EIF2AK4, eukaryotic translation initiation factor 2-α kinase 4; ENG, Endoglin; HPAH, hereditary pulmonary hypertension; IPAH, idiopathic pulmonary arterial hypertension; KCNK3, potassium channel subfamily K, member 3; NOTCH3, neurogenic locus notch homologue protein 3; PH, pulmonary hypertension; PVOD, pulmonary veno-occlusive disease; SMAD9, Smad family member 9.