In two families with a congenital, non-progressive spinocerebellar ataxia (SCA29 [MIM: 117360]), the disease was found to co-segregate with a different ultra-rare ITPR1 missense mutation in each family (encoding c.1759A>G [p.Asn587Asp] and c.4639G>A [p.Val1547Met]; these and all subsequent numbering converted to GenBank: NP_001161744.1 [Q14643-2, ENSP00000306253.8] with pathogenicity scores for all variants provided in Table S3).28 This evidence concerns the gene ITPR1 and cerebellar ataxia.