Fig. 2

Overview of the OxClinWGS Study: genetic and clinical results. The OxClinWGS RD cohort included 122 cases, of which 47 were considered solved and a further 12 cases had variants of uncertain significance in lead candidates identified. Two cases had secondary findings. Eight novel disease genes have been identified to date, five of which are confirmed disease genes and three of which have evidence of causality. The asterisk denotes that this group includes novel and putative novel genes. The phenotype for one gene was expanded. Revised clinical diagnoses were provided for six patients, whilst for eight patients, the findings led to changes in their clinical management. Colours denote cases with genes that are considered solved (green), have evidence of causality (light green) or are variants of uncertain significance in lead candidates (brown). Abbreviations: PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne); CNS (central nervous system)