Examples include NF2 and SERPINA1 genes with associated conditions (neurofibromatosis type 2 and emphysema-cirrhosis due to alpha-1-antitrypsin deficiency, respectively) and interventions that were considered actionable by the scoring committee, but onset of disease outcomes of interest (acoustic neuromas and meningiomas for neurofibromatosis type 2 and emphysema and cirrhosis for alpha-1-antitrypsin deficiency) more commonly occurred in adulthood [39, 40]. The gene discussed is NF2; the disease is NF2-related schwannomatosis.