Novel CIP/HSAN-related variants were identified in 12 different CIP/HSAN genes, namely in ATL3 (n = 3), DST (n = 2), KIF1A (n = 1), NGF (n = 2), NTRK1 (n = 21), PRDM12 (n = 3), RAB7A (n = 2), SCN9A (n = 22), SPTLC1 (n = 2), SPTLC2 (n = 8), WNK1 (n = 6) and FLVCR1 (n = 6) (Supplementary Fig. 2), where ‘n’ corresponds to the number of patients per gene. Here, SPTLC2 is linked to hereditary sensory and autonomic neuropathy.