The Genomics England PanelApp, a crowdsourcing tool that allows knowledge of rare disease genes to be shared and evaluated, has a new look for the New Year.
Over the past few months, we have worked to incorporate feedback from users and added new features which will make it easier to review gene panels.
Below are some screenshots of the new look. You can explore the platform here. (opens in new window).
You can now filter through the list of gene panels – of which there are currently 170 across a whole spectrum of rare diseases – to help narrow your search and find ones you want to review or download. The list of panels can also be sorted based on how many genes have been evaluated or how many expert reviewers have assessed each panel.
The sort and filter feature also works when you’re viewing a particular panel. Let’s say you want to look at the ‘Early onset and familial Parkinson’s Disease’ (opens in new window) panel, you can choose to show only genes that are on the ‘green’ list (meaning that they are very likely to underly the cause of the disease). Alternatively the genes can be sorted and filtered by name, number of reviews or the mode of inheritance.
Why is PanelApp important?
The aim of PanelApp is to utilise expertise and knowledge to establish a final diagnostic grade gene panel for each disorder. These will be used in the classification of genetic variants to aid clinical interpretation of rare disease genomes, and help to deliver life-changing results for patients and their families taking part in the 100,000 Genomes Project.
Thank you to all those who have already reviewed panels, your contribution is greatly appreciated and within each gene panel you can see acknowledgement of every expert reviewer. We have started to evaluate the reviews we have so far, and will revise and update the gene panels (Version 1.0) for use in the analysis of genomes in the 100,000 Genomes Project.
There are still many gene panels that require expert review. We are asking all rare disease experts to contribute. You can register to become a PanelApp reviewer here.
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