We have a number of genetic data resources available to establish genotype-phenotype correlations in NF1: * [Harmonized genetic datasets available on Synapse](https://www.synapse.org/#!Synapse:syn18666641/wiki/594205) * [Leiden open variation database](https://databases.lovd.nl/shared/genes/NF1) * [Catalog of Somatic Mutations in Cancer (COSMIC)](https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=329089) As part of our initial preparation for hacking NF1, we should map observed NF1 mutations to observed NF1 complications in patients with those mutations together with age of onset, so we can correlate known patterns of hormonal expression at different stages of growth as additional (to the mutation) preconditions for expression of particular complications. For every NF1 complication we should catalog * Associated mutations * Age of onset * Other co-occuring germline mutations or polymorphisms * The signalling pathway * Cell type targets in the cNF microenvironment impacting the signalling pathway

Created by Lars Ericson lars.ericson

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