Bi‐allelic inactivating germline mutations in PALB2 that at least partly truncate the BRCA2‐binding C‐terminal WD40 domain, result in the Fanconi anaemia (FA) subtype N. These patients display a severe FA phenotype with a high cancer incidence, including acute myeloid leukaemia (AML) before the age of 5 years (Reid et al., 2007; Xia et al., 2007). This evidence concerns the gene PALB2 and Friedreich ataxia.