ERN GENTURIS has generated 8 patient journeys (neurofibromatosis type 1, NF2-related schwannomatosis, non-NF2-related schwannomatosis, Lynch syndrome, hereditary breast and ovarian cancer syndrome, PTEN hamartoma tumour syndrome, heritable TP53-related cancer syndrome/Li Fraumeni syndrome, Birt-Hogg-Dubé syndrome) so far and these are publicly available on our website (Table 2). The gene discussed is TP53; the disease is neurofibromatosis type 1.