The Ehlers-Danlos Society has assisted Genomics England with the EDS gene panel for the 100,000 Genomes Project. The EDS panel has been reviewed by members of the International Consortium for Ehlers-Danlos syndromes and related disorders. The Society were contacted by the team working on the 100,000 Genomes project following the work surrounding the new diagnostic criteria in March 2017 and we were very privileged to help support this important effort.
The 100,000 Genomes Project aims to sequence 100,000 genomes from NHS patients. The goal is to create a new system of genomic medicine that will aid in diagnosis and treatment of rare disorders and cancer. In addition, gene data can be used by researchers who study these conditions.
“[The EDS] panel is designed for analysis of families with a working or clinical diagnosis of any of the Ehlers-Danlos syndromes subtypes set out in ‘The 2017 international classification of the Ehlers–Danlos syndromes’ Malfait et al., 2017 (PMID: 28306229). In addition, this panel has been designed to capture the main differential diagnoses for these syndromes, including connective tissue phenotypes associated with vascular disease.” (source)
The Ehlers-Danlos panel can now be accessed through the 100,000 Genomes Project’s PanelApp, which 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.” (source)
Follow the link below for:
The Ehlers-Danlos syndrome panel
More information about PanelApp
More information about the 100,000 Genomes Project
