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GENATLAS PHENOTYPE
last update : 15-12-2010
Symbol PGL2
Location 11q13.1
HGNC id 8901
Name hereditary paraganglioma 2
Other name(s)
  • glomus tumors, familial, 2
  • non chromaffin, chemodectoma
    • Corresponding gene SDHAF2
    Main clinical features paragangliomata, chemodectoma, carotid body (glomus)
    Genetic determination autosomal dominant
    Function/system disorder endocrinology
    neoplasia
    Type malignancy
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense     germline loss-of-function mutations segregating in a family
    Remark(s) paraganglioma was previously linked to mutations in genes encoding SDH subunits