applied WES to a cohort of 110 patients with hereditary PN, including CMT, hereditary sensory neuropathies, and hereditary motor neuropathies, with no genetic diagnosis in the most common PN‐related genes (PMP22, MPZ, GJB1, MFN2, SPTLC1, and SPTLC2) [48]. The gene discussed is SPTLC1; the disease is poikiloderma with neutropenia.