Figure 1.

Virtual gene panel comparison and harmonization via PanelApp

(A) The PanelApp instances deployed in the UK and Australia use a common data model and curation guidelines but maintain separate governance and panel repertoires.

(B) The “compare panels” feature in PanelApp can be used to visualize discrepancies between gene panels, as displayed here for a section of the mitochondrial disease panels. The comparison tool highlighted gene rating agreement (i) as well as discrepancies requiring review, including diagnostic-grade genes included in one panel but not the other (ii) and genes with different ratings (iii). Red genes on one panel but missing on the other (iv) were not reviewed because of low level of evidence for inclusion.

(C) Improved alignment between the two intellectual disability panels following exchange of reviews. The green bars represent number of genes rated “green” on each panel. The gray, amber, and red bars represent genes that were rated “green” on one panel but were either absent (gray) or discordantly rated on the other.