Apart from X‐linked FANCB, and dominant negative variants in RAD51/FANCR, FA is an autosomal recessive disease, caused by the inheritance of biallelic mutations in any of the 20 other FA genes: FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, FANCQ/XPF, FANCS/BRCA1, FANCT/UBE2T, FANCU/XRCC2, FANCV/REV7, FANCW/RFWD3 (Knies et al., 2017; Mamrak et al., 2017; Wang & Smogorzewska, 2015). Here, RFWD3 is linked to autosomal recessive disease.