Database Record
Genomics England | PanelApp: PanelApp
| IDNBDC common database IDs, which should be written in parentheses if there are multiple titles, such as Japanese and English. | NBDC02131 |
|---|---|
| Database nameName of the database | Genomics England | PanelApp |
| Alternative nameAlternative name of the database | PanelApp |
| URLURL of the database | https://panelapp.genomicsengland.co.uk/ |
| Database maintenance siteSite maintaining the database | Genomics England |
| Country/RegionCountry or region name where the database maintenance site is located | United Kingdom |
| Database descriptionDatabase descirption | 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. As panels in PanelApp are publically available, they can also be utilised by others. Experts are asked to register (https://panelapp.genomicsengland.co.uk/accounts/registration/) 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 webservices (https://panelapp.genomicsengland.co.uk/#!Webservices). More detailed background information, instructions and updates can be found on the PanelApp homepage tabs. |
| Organism(s) coveredNCBI Taxonomy names and IDs covered by the database | Homo sapiens (9606) |
| Tag - TargetTag to indicate targets for this database such as genome and protein |
Genome/Gene
cDNA/EST
Genetic variation
Epigenetics
DNA
RNA
Protein
Carbohydrate
Lipid
Metabolite
Chemical compound
Drug
Cell/Organelle
Organism
Health/Disease
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| Tag - Information typeTag to indicate information types for this database such as sequence and structure |
Phenotype
Bioresource
Method
Ontology/Terminology/Nomenclature
Environment
Sequence
3D structure
Chemical structure
Expression
Localization
Geographic Distribution
Interaction/Pathway
Taxonomy
Classification
Image/Movie
Bibliography/Documents
Portal
Repository
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| Reference(s) - PubMed ID/DOIPubMed IDs/DOI for papers related to the database | ― |
| Language(s)Languages in which the contents of the database are displayed | English |
| Operational statusOperational status for the database | Active |
| Link(s) to Downloadable dataLinks to downloadable data | ― |
| Link(s) to MetaData of downloadable dataLinks to metadata of downloadable data | ― |
| Link(s) to Terms of useLinks to terms of use of downloadable data | ― |
| Link(s) to "How to use" | ― |
| Contact information of database | ― |
| Link(s) to API / SPARQL endpoint | ― |
| Link to LSDB ArchiveLink to LSDB Archive | ― |
| Link to MEDALS Database listLink to MEDALS Database list | ― |
| Link to TogoTVLink to TogoTV | ― |
| Link to FAIRsharingLink to FAIRsharing | https://fairsharing.org/10.25504/FAIRsharing.yfk4w2 |
| Similar databasesDatabases that are similar to this database. | |
| Record maintainerRecord maintainer | See the corresponding part in the FAIRsharing record |
| Record sourceOrganization that originally created the record |
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| Date of creation of this recordDate of creation of this English record | 2019-03-28 |
| Last update date of this recordLast update date of this English record | 2024-07-28 |
| Record license | Creative Commons Attribution and Share-alike (CC-BY-SA) International 4.0 license |