Extended Data Fig. 4: Changes to gene panels after expert review and further curation for five example panels. | Nature Genetics

Extended Data Fig. 4: Changes to gene panels after expert review and further curation for five example panels.

From: PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Extended Data Fig. 4

The number and rating (green/amber/red) of genes on the first (v0) and latest versions (as of January 2019, v1+) of five example panels in PanelApp. No overall changes to the two green genes in the classical tuberous sclerosis panel were made from version 0 to version 1; these are two well-established genes found on all source panels with a high level of evidence for disease-causation. For the intellectual disability panel, there was little consensus between the four original sources and therefore few green genes prior to external review. After external review and curation, the number of green genes expanded significantly (version 1 compared to version 0). A comprehensive update of the version 1 intellectual disability panel was subsequently undertaken, and due to a large number of additional green genes the panel was promoted to version 2. Continual updates to the panels are reflected in the minor version (for example 595 of the intellectual disability panel).

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