PMM2 and pulmonary arterial hypertension: These findings included actionable genes associated with hereditary cancer in 2 patients (BRCA2 and BRIP1 genes) and carrier states of autosomal recessive (AR) diseases in 19 patients (GBA, PAH, TG, PKDH1, ACADM, USH2A, PMM2, ATP6V0A2, PRKN, ALDOB, DHCR7, IDUA, AHI1, XPC, PTS, SLC17A5, and RNASEH2B genes).