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GENATLAS PHENOTYPE
last update : 24-01-2014
Symbol ICS7
Location 7p15
Name immotile cilia syndrome 7
Other name(s)
  • primary ciliary dyskinesia 7
  • ciliary dyskinesia, primary, 7, with or without situs inversus
  • Corresponding gene DNAH11
    Other symbol(s) PCD7, CILD7
    Main clinical features
  • characterized by chronic respiratory symptoms, including sinusitis, otitis and recurrent episodes of bronchitis with (Kartagener syndrome) without situs inversus
  • usually associated with male infertility and absence of outer dynein arms
  • Genetic determination autosomal recessive
    Function/system disorder respiratory
    Type disease
    Gene product
    Name dynein, axonemal, heavy polypeptide 11
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein R2852X
    Remark(s)