Fanconi anemia (FA) is a rare genetic disorder that results from DNA repair defects arising from pathogenic variants (PVs) in at least 22 genes (FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, FANCQ/ERCC4/XPF, FANCR/RAD51, FANCS/BRCA1, FANCT/UBE2T, FANCU/XRCC2, FANCV/REV7/MAD2L2, and FANCW/RFWD3) discovered to play a role in the FA DNA repair pathway. The gene discussed is FANCA; the disease is Fanconi anemia.