Fig. 1

Overview of Phase I activity of the Model Organism Screening Center (MOSC) of the Undiagnosed Diseases Network (UDN). A total of 239 variants were submitted for consideration from the 907 cases evaluated at Phase I UDN Clinical Sites. States with Phase I Clinical Sites are marked in red. After bioinformatic analysis on all submissions, 59 genes were selected for study by the Fly Core and 16 genes by the Zebrafish Core. Gene names in red indicate novel disease gene candidates, whereas those in black represent proposed phenotypic expansions, according to the assessment by the clinical sites at the time of submission to the MOSC. Gene names that are in bold and underlined indicate cases where data from the MOSC directly led to a diagnosis (see Table 1 for details)