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GENATLAS PHENOTYPE
last update : 14/06/2006
Symbol FANCG
Location 9p13.3
Name Fanconi anemia, complementation group G
Corresponding gene FANCG
related resource Fanconi Anaemia Mutation Database
Main clinical features
  • progressive bone marrow failure (pancytopenia),
  • skin pigmentary changes, short stature, upper limb malformations and other physical abnormalities
  • increased risk of hematologic and non-hematologic malignancies
  • endocrine dysfunction , early onset osteopenia/osteoporosis and lipid abnormalities
  • spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents
    • Genetic determination autosomal recessive
    Function/system disorder hematology
    osteo-articular
    Type chromosomal instability syndrome
    Gene product
    Name repair X-ray defect, complementing defective FANCG
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein  
    Remark(s) no E105X predominant mutation in German patients (44%) most mutations leading to a truncated protein