The Genomics England PanelApp tracks show virtual gene panels related to human disorders. Originally developed to aid interpretation of participant genomes in the 100,000 Genomes Project, PanelApp is now also being used as the platform for achieving consensus on gene panels in the NHS Genomic Medicine Service (GMS). As panels in PanelApp are publicly available, they can also be used by other groups and projects. Panels are maintained and updated by Genomics England curators.
- Genes and genomic entities (short tandem repeats/STRs and copy number variants/CNVs) + Genes and genomic + entities (short tandem repeats/STRs and copy number variants/CNVs) have been reviewed by experts to enable a community consensus to be reached on which genes and genomic entities should appear on a diagnostics grade panel for each disorder. A rating system (confidence level 0 - 3) is used to classify the level of evidence supporting association with phenotypes covered by the gene panel in question.
The available data tracks are:
The individual tracks are colored by confidence level:
-Mouseover on items shows the gene name, confidence level, mode of inheritance -(if known) and phenotypes related to the gene. supporting evidence of -dosage sensitivity. Tracks can be filtered according to the confidence +Mouseover on items shows the gene name, panel associated, mode of inheritance +(if known), phenotypes related to the gene, and confidence level. Tracks can +be filtered according to the confidence level of disease association evidence. For more information on -the use of this data see the -PanelApp FAQs. +the use of this data, see the PanelApp +FAQs.
The raw data can be explored interactively with the - Table Browser or the - Data Integrator. + Table Browser or the + Data Integrator. For automated analysis, the data may be queried from our - REST API. + REST API. Please refer to our mailing list archives for questions, or our - + Data Access FAQ for more information.
Data is also freely available on the PanelApp API.
PanelApp files were reformatted at UCSC to the bigBed format. + href="/goldenPath/help/bigBed.html">bigBed format.
Thank you to Genomics England PanelApp, especially Catherine Snow for technical - coordination and consultation, and to Beagan Nguy, Christopher Lee, Daniel Schmelter - and Anna Benet-Pages of the Genome Browser team. + coordination and consultation. Thank you to Beagan Nguy, Christopher Lee, Daniel Schmelter, + and Ana Benet-Pagès of the Genome Browser team for the creation of the tracks.
Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O, Leong IUS, Smith KR, Gerasimenko O, Haraldsdottir E et al. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. PMID: 31676867