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GENATLAS PHENOTYPE
last update : 03-07-2019
Symbol ICHD
Location 20p12.2
Name isolated congenital heart defects
Corresponding gene JAG1
Other symbol(s) TOF, PS
Main clinical features
  • cardiac defects of the type seen in AGS, ranging from mild peripheral pulmonic stenosis to severe forms of tetralogy of Fallot in absence of liver dysfunction
    • Genetic determination autosomal dominant
    Related entries AGS
    Function/system disorder cardiovascular
    Type malformation
    Gene product
    Name jagged 1, a ligand in the Notch signalling pathway
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     among which G274D
    Remark(s)