The Genomics England PanelApp – our public crowdsourcing tool for evaluating and sharing rare disease gene panels – has now reached 150 gene panels at version 1 or above. This means that the ‘green genes’ on these panels can be used in the analysis of rare disease genomes in the 100,000 Genomes Project, helping to find a diagnosis for patients and their families.
The gene panels (or lists) are first created by our team of curators. PanelApp then allows gene panels to be reviewed online by clinicians and scientists. This vital community knowledge is used to establish a consensus diagnostic-grade gene panel for each rare disease in the 100,000 Genomes Project.
PanelApp gene panels are dynamic, and they are continuously reviewed and curated as new knowledge arises. Our 150 Version 1+ panel target was reached last week when curators and clinicians got together for our 6th Gene Panel Curation Day at the Wellcome Genome Campus in Hinxton. Some of our recent Version 1 panels include Developmental Glaucoma, Familial pulmonary fibrosis and Epidermolysis bullosa.
Thank you to all our reviewers who have helped us reach this target!
To find out more about our gene panel curation, visit PanelApp.