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GENATLAS PHENOTYPE

last update : 19-05-2010

Symbol	FANCO
Location	17q22
Name	Fanconi anemia, complementation group O
Corresponding gene	RAD51C
Main clinical features	bone marrow failure and predisposition to leukemia multiple congenital abnormalities, including short stature, bilateral radial hypoplasia, anal atresia, bilateral cryptorchidism, small genitalia, bilateral cystic dysplasia of the kidneys, and chronic renal failure primary cultured fibroblasts showed increased chromosomal breakage after exposure to interstrand cross-linking agents, with pronounced arrest of the cell cycle at G2 associated with impaired RAD51C
Genetic determination	autosomal recessive
Function/system disorder	hematology
Type	chromosomal instability syndrome

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