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GENATLAS PHENOTYPE
last update : 23-06-2020
Symbol CHNG2
Location 2q14.1
Name hypothyroidism, congenital, nongoitrous 2
Corresponding gene PAX8
Main clinical features
  • thyroid dysgenesis is the most frequent cause of congenital hypothyroidism
  • high serum levels of biologically active thyrotropin but no response to thyrotropin
  • Genetic determination autosomal dominant
    Function/system disorder endocrinology
    Type disease
    Remark(s)