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ready Genomics England | PanelApp


General Information
Genomics England PanelApp is a publically-available knowledgebase that allows virtual gene panels related to human disorders to be created, stored and queried. It includes a crowdsourcing tool that allows genes to be added or reviewed by experts throughout the worldwide scientific community, providing an opportunity for the standardisation of gene panels, and a consensus on which genes have sufficient evidence for disease association. The diagnostic grade ‘Green’ genes and their modes of inheritance in the Version 1+ PanelApp virtual gene panels are used to direct the variant tiering process for the interpretation of genomes in the 100,000 Genomes Project and for the National Health Service England Genomic Medicine Service. As panels in PanelApp are publically available, they can also be utilised by others. Experts are asked to register ( in order to review and rate the genes on the panel to indicate whether there is a diagnostic-grade level of evidence for the gene to be implicated in a given disease. Bioinformaticians can access the data via the PanelApp API (!API). More detailed background information, instructions and updates can be found on the PanelApp homepage tabs.


Countries that developed this resource United Kingdom

Created in 2015

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How to cite this record PanelApp; Genomics England | PanelApp; DOI:; Last edited: July 28, 2020, 11:43 a.m.; Last accessed: Oct 25 2021 12:22 p.m.

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Record added: April 12, 2016, 2:15 p.m.
Record updated: July 23, 2020, 3:34 p.m. by panelapp.

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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.

Martin AR,Williams E,Foulger RE,Leigh S,Daugherty LC,Niblock O,Leong IUS,Smith KR,Gerasimenko O,Haraldsdottir E,Thomas E,Scott RH,Baple E,Tucci A,Brittain H,de Burca A,Ibanez K,Kasperaviciute D,Smedley D,Caulfield M,Rendon A,McDonagh EM
Nat Genet 2019

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