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GENATLAS PHENOTYPE
last update : 27-11-2009
Symbol ELA2
Location 19p13.3
Name cyclic neutropenia
Other name(s) cyclic hematopoiesis
Corresponding gene ELANE
Main clinical features
  • oscillating with 21 days periodicity and associated with a risk of opportunistic infection during intervals of neutropenia
    • Genetic determination autosomal dominant
    Function/system disorder hematology
    Type disease
    Gene product
    Name elastase 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     point mutations
    Remark(s)