F13a autosomal recessive mutations lead to F13a deficiency [60, 61, 62], TGM1 has disease causing mutations in autosomal recessive congenital ichthyosis [63, 64], TGM5 homozygous LOF mutations cause acral peeling skin syndrome [65, 66, 67] and TGM6 mutations are associated with spinocerebellar ataxia 35 [68]. Here, TGM1 is linked to cerebellar ataxia.