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GENATLAS PHENOTYPE
last update : 23-03-2011
Symbol OFTD
Location 18q11.2
Name cardiac outflow tract defects
Corresponding gene GATA6
Other symbol(s) CHD
Main clinical features
  • tetralogy of Fallot , atrial septal defect, persistent truncus arteriosus (PMID: 20631719))
  • in any cases, typical facial features of conotruncal anomaly face syndrome (CAFS) are ocular hypertelorism (with increased interpupillary distance due to increased separation of the inner canthi), short palpebral fissures, 'bloated' eyelids, a low nasal bridge, a small mouth, and minor ear lobe anomalies with nasal voice (often associated with cleft palate/submucosal cleft palate/bifid uvula) and mild mental retardation
  • Genetic determination autosomal dominant
    Related entries DEL22q11
    Function/system disorder cardiovascular
    Type malformation
    Gene product
    Name regulation of semaphorin-plexin complex
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   under-expression S184N,A178V,L198V an other with incomplete penetrance
    Remark(s)