Endorsed* guidelines for Neurofibromatoses

* ERN GENTURIS uses AGREE II as a tool for the endorsement of guidelines. The quality of the guideline is evaluated through assessing the rigor and transparency of the guideline development process. The content of the guideline is not evaluated, although selection of the guideline for endorsement includes expert opinion on the usefulness of the content of the guideline.

  • Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

    Authors: Scott R Plotkin et al.

    Genet Med. 2022 Jun 8;S1098-3600(22)00773-0. doi: 10.1016/j.gim.2022.05.007
    Endorsed in August 2022


  • Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

    Authors: Eric Legius et al.

    Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5
    Endorsed in September 2021