The gene encodes a probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signalling pathway and could play a pivotal role in tumour suppression by restricting proliferation and promoting apoptosis.49 Mutations in this gene are associated with neurofibromatosis type II, characterized by nervous system and skin tumours and ocular abnormalities.50 The exact role of Nf2 and its RNA editing remains to be further determined. Here, SAV1 is linked to NF2-related schwannomatosis.