PanelApp

https://panelapp.extge.co.uk/ – links open in a new tab

What is it?

The Genomics England PanelApp was created to enable virtual gene panels to be viewed and commented on by experts within the clinical and scientific community around the world.

The process

  • Step 1: Creating initial gene panels in PanelApp
  • Step 2: Crowdsourcing of expertise
  • Step 3: Establishing a diagnostic-grade gene panel

The aim is to use expertise and knowledge to establish a consensus final ‘green’ diagnostic grade gene panel for each disorder to aid clinical interpretation of genomes for the 100,000 Genomes Project.

PanelApp is a valuable resource for the scientific community, providing the opportunity to encourage a consensus for which genes have enough evidence to be included on a diagnostic panel for a particular disease.


Navigate


How PanelApp is useful for you

Read more in the tabs below, depending on your role and interests.

  • Review gene(s) on panel(s) for disease(s) matching your expertise
  • Add genes missing from a panel that is used in clinical diagnosis
  • Use panels for exome/genome analysis
  • Look at the evidence for inclusion of a gene(s) in your patient report/ during a MDT
  • Add your publications as evidence for gene-disease relationships
  • Suggest additional panels to be added that would be useful for research or the clinical community
    (contact panelapp@genomicsengland.co.uk)
  • Provide input on whether gene panels should be combined/merged
  • View reviewer comments about the evidence for the gene-disease association(s)

  • Use as a source of data for hypothesis generation.
  • Study gene-disease relationships for genome interpretation, pathway analysis and more
  • Use the ‘tagged’ genes to investigate genes with interesting disease-causing mechanisms.
  • Use red and amber genes as a source of genes needing further evidence/investigation within your disease of interest for certain diseases.
  • Review genes and/or panels you have expertise in to help genome interpretation.
  • Add novel genes to panels that you find within your research.
  • Add your publications as evidence for gene-disease relationships.
  • Suggest additional panels to be added that would be useful for research or the clinical community (contact panelapp@genomicsengland.co.uk)
  • Provide input on whether gene panels should be combined/merged
  • Help us with visualisation of the data in PanelApp
  • Query PanelApp data
  • Search for a gene to see the disease(s) it is linked to
  • Search for a disease that you are interested in to see the relevant gene panel
  • View reviewer comments about the evidence for the gene-disease association(s)
  • Use panels for your exome/genome interpretation pipeline
  • Query PanelApp data
Find out how to query our web services here (opens in a new tab)

Read More

How do I get involved?

Follow links above to view and/or register. If you have any questions or suggestions, please e-mail
 panelapp@genomicsengland.co.uk

Find us on Twitter using #PanelApp!

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