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Gene Family: Fanconi anemia complementation groups (FANC)

Genes contained within the family: 22

Approved Symbol Approved Name Previous Symbols Synonyms Chromosome
FANCA Fanconi anemia complementation group A FACA, FANCH FAA, FA-H, FAH 16q24.3
FANCB Fanconi anemia complementation group B FAB, FLJ34064, FAAP95 Xp22.2
FANCC Fanconi anemia complementation group C FACC FAC, FA3 9q22.32
BRCA2 BRCA2, DNA repair associated FANCD1, FACD, FANCD FAD, FAD1, BRCC2, XRCC11 13q13.1
FANCD2 Fanconi anemia complementation group D2 FACD, FANCD FAD, FA-D2 3p25.3
FANCE Fanconi anemia complementation group E FACE FAE 6p21.31
FANCF Fanconi anemia complementation group F FAF 11p14.3
FANCG Fanconi anemia complementation group G XRCC9 FAG 9p13.3
FANCI Fanconi anemia complementation group I KIAA1794 FLJ10719 15q26.1
BRIP1 BRCA1 interacting protein C-terminal helicase 1 FANCJ, BACH1, OF 17q23.2
FANCL Fanconi anemia complementation group L PHF9 FLJ10335, FAAP43, Pog 2p16.1
FANCM Fanconi anemia complementation group M KIAA1596 FAAP250 14q21.2
PALB2 partner and localizer of BRCA2 FANCN, FLJ21816 16p12.2
RAD51C RAD51 paralog C FANCO, RAD51L2 17q22
SLX4 SLX4 structure-specific endonuclease subunit BTBD12 FANCP, KIAA1987, KIAA1784 16p13.3
ERCC4 ERCC excision repair 4, endonuclease catalytic subunit XPF FANCQ, RAD1 16p13.12
RAD51 RAD51 recombinase RAD51A, RECA HsRad51, FANCR, HsT16930, BRCC5 15q15.1
BRCA1 BRCA1, DNA repair associated RNF53, PPP1R53, BRCC1, FANCS 17q21.31
UBE2T ubiquitin conjugating enzyme E2 T HSPC150, FANCT 1q32.1
XRCC2 X-ray repair cross complementing 2 FANCU 7q36.1
MAD2L2 mitotic arrest deficient 2 like 2 POLZ2, REV7, FANCV, MAD2B 1p36.22
RFWD3 ring finger and WD repeat domain 3 FANCW, RNF201, FLJ10520 16q23.1

Comments

Fanconi anemia (FA) is a rare disorder with diverse symptoms. Because the clinical symptoms vary considerably, and may be absent altogether, the FA diagnosis critically depends on a positive result from a chromosomal breakage test in which cells are exposed to a cross-linking agent such as diepoxybutane or mitomycin C. The gene symbols for FA genes carry the root FANC# followed by a letter, to be assigned in alphabetical order by date of discovery. If a gene with an existing approved symbol is identified as an FA causing gene, the original gene symbol is usually maintained and an appropriate FANC# symbol may be assigned as a synonym. Note that complementation group D was subsequently split into subgroups D1 and D2 when more than one gene was found to be responsible, FANCH was merged into FANCA based on PMID 10936108, and FANCK has not been used to avoid confusion with FANCA when pronounced.

Specialist advisors

Prof. Hans Joenje