PanelApp Version 2 Launched
A new and improved release of PanelApp
Visit our dedicated PanelApp page to learn more about our publicly accessible crowdsourcing tool for virtual human disease gene panel creation, storage and querying.
The diagnostic grade ‘Green’ genes and their modes of inheritance in the PanelApp virtual gene panels are used to direct the variant tiering process for the interpretation of genomes in the 100,000 Genomes Project.
What’s new in V2?
- A simpler URL: https://panelapp.genomicsengland.co.uk
Direct URL links to panels or genes are available, even if you are not logged in
Straightforward links to genes e.g. https://panelapp.genomicsengland.co.uk/panels/101/CHD7/
Shorter panel codes e.g. https://panelapp.genomicsengland.co.uk/panels/101/
- Both Genome build GRCh38 and GRCh37 are supported
This includes updates to some HGNC-approved gene symbols.
New webservice queries are available; you can specify assembly GET parameters with either GRch37 (default) or GRch38 as a value.
Ensembl Ids will be returned for the specified assembly version: GRch37 version 82 or GRch38 version 90 if they exists in the database.
For example …/WebServices/search_genes/AKT2/?panel_name=Regional 20overgrowth 20disorders&assembly=GRch38
- Improved page loading and greatly improved response times
- Improvements to the registration process
Updated documentation will be available through PanelApp soon.
PanelApp Update
- 167 diagnostic-grade (Version 1+) panels
- >540 registered users
- >11,400 V1+ genes
