Mutations in ITPR1–genomic deletions (SCA15, MIM#606658 [https://www.omim.org/entry/606658]) as well as missense mutations (SCA29, MIM#117360)–have been shown to cause autosomal dominant cerebellar ataxia, that can be variably accompanied by aniridia (Gillespie syndrome, MIM#206700 [https://www.omim.org/entry/206700]). The gene discussed is ITPR1; the disease is aniridia.