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GENATLAS PHENOTYPE
last update : 16/06/2006
Symbol CHAR
Location 6p12.3
Name CHAR syndrome
Corresponding gene TFAP2B
Main clinical features
  • patent ductus arteriosus, facial dysmorphism with abnormal fifth digits including forms with sleep disorder (parasomnia), dental and occipital -bone abnormalities
    • Genetic determination autosomal dominant
    Function/system disorder congenital malformation
    Type disease
    Gene product
    Name transcription factor 2AP2B (TFAP2B)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   haploinsufficiency  
    abnormal splicing   haploinsufficiency  
    Remark(s)