In addition, mutations in various members of the spectrin gene family are associated with erythroid cell disorders (SPTA1, SPTB) and neurological disorders (SPTAN1, SPTBN1, SPTBN2, and SPTBN4); however, no human genotype-phenotype correlation has been established for SPTBN5 to date (Rosenfeld et al., 2021). Here, SPTBN4 is linked to nervous system disorder.