I want to share a gene using GeneMatcher to see if there are other cases around the world

Question

I want to share a gene using GeneMatcher to see if there are other cases around the world

Answer

Yes. Please submit an Airlock GeneMatcher Request from within the Research Environment.

These will be assessed on a case by case basis to ensure confidentiality for participants. Please only include top level phenotype data (e.g. ‘disorder of the immune system’).

Please make a clinical collaboration request so we can contact the clinician, if you would like to add detailed phenotypic information.

If further evidence becomes available to support pathogenicity of the variant please submit a Researcher-identified potential diagnosis form within the Research Environment.

Last updated

This page was last updated on the 08 Nov 2024.