Fig. 4

Examples of different actionability scores based on defined phenotype. Bar graph of ASQM scores for eight genes with conditions that were separately reviewed by the scoring committee depicting individual criterion scores for the severity of disease, likelihood of presentation or penetrance, efficacy and acceptability of intervention, and knowledge base. The area between the vertical dashed lines represents gene-disease pairs scoring 9, 10, and 11 that underwent an additional round of discussion and review prior to categorization. Genes associated with early-onset conditions that scored 8 or below were automatically placed in ASQM Category 2 and pairs scoring 12 or greater were placed in ASQM Category 1. Assigned ASQM categories are labeled at the end of each bar for every gene-disease pair: NBS Cat 1 for Category 1 with early-onset and high actionability, Cat 2 for Category 2 with early-onset but lower or no actionability, and Cat 4 for Category 4 with adult-onset and lower or no actionability