A 17-gene PAH next-generation sequencing panel (ACVRL1, AQP1, ATP13A3, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, EPHB4, GDF2, KCNA5, KCNK3, RASA1, SMAD4, SMAD9, SOX17, and TBX4), which included all genes associated with HHT as well as its associated phenotypically overlapping syndromes, was found to be negative except for a homozygous variant in ACVRL1 (NM 000020.2; c.576C>G; p.Phe192Leu). The gene discussed is ACVRL1; the disease is hereditary hemorrhagic telangiectasia.