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GENATLAS PHENOTYPE
last update : 25-10-2016
Symbol FANCR
Location 15q15.1
Name Fanconi anemia, complementation group R
Corresponding gene RAD51
Main clinical features
  • patient cells exhibited DNA interstrand crosslink (ICL) hypersensitivity, yet remained proficient for HR
  • growth retardation, microcephaly, skeletal abnormalities, renal anomalies
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    kidney and urinary tract
    osteo-articular
    Type disease
    Remark(s)