A causative 364 bp NF2 deletion (chr22:30067648–30068012; p.Met334_Leu374del [c.1000-167_1122 + 75del]) was detected in a young child diagnosed with a WHO grade 2 ependymoma (methylation class spinal ependymoma (SP-EPN)) located at the cervicomedullary junction. This evidence concerns the gene NF2 and ependymoma.