NF2 and NF2-related schwannomatosis: We analysed targeted sequencing data from a cohort of 1134 unrelated individuals diagnosed with neurofibromatosis type 2, which is caused by LoF variants in one of these prioritised genes, NF2. We identified a single 5’UTR variant in two unrelated probands in this cohort (ENST00000338641:−66-65insT; GRCh37:chr22:29999922A >AT) that segregates with disease in three additional affected relatives across the two families (Supplementary Fig. 3b; Supplementary Table 3).