TSEN54, TSEN2, TSEN34, and CLP1 genes encode members or associated factors of this TSEN complex and variants in those genes have been associated with 6 PCH subtypes: PCH2A (OMIM #277470), PCH2B (OMIM #608753), PCH2C (OMIM #608754), PCH4 (OMIM #225753), PCH5 (OMIM #610204) and PCH10 (OMIM #615803). Here, TSEN54 is linked to pontocerebellar hypoplasia.