A Gly50Val substitution in ERLIN1 has been implicated in autosomal recessive SPG62 (Novarino et al, 2014), whereas His50Tyr (ClinVar ID: 947803) and Arg36Lys (ClinVar ID: 1720746) in ERLIN2 have been reported as a variant of unknown significance in individuals with spastic paraplegia. The gene discussed is ERLIN2; the disease is Spastic paraplegia.