Fig. 2

Schematic flowchart overview of the diagnostic exome procedure. Two hundred fifty-four patients from 249 families were referred for exome sequencing. Gene panel analysis resulted in a genetic diagnosis for 24% of patients. Eighty-one percent of diagnosis-negative patients provided consent for exome-wide analysis of their data. This analysis resulted in a genetic diagnosis for 10 additional patients (6% of exome-wide analyzed patients, 4% of the entire cohort). Data of the remaining 146 patients are re-analyzed for analysis of novel and recently published genes