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GENATLAS PHENOTYPE
last update : 27-03-2019
Symbol DTGA
Location 12q24.21
Name dextro-looped transposition of the great arteries
Corresponding gene MED13L
Main clinical features
  • complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle
  • creating completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life, often associated to atrial and/or ventricular septal defects or other types of shunting
  • Genetic determination not applicable
    Function/system disorder cardiovascular
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     E251G , R1872H, and D2023G, mostly frequent
    deletion   haploinsufficiency in two patients with a similar phenotype of hypotonia, moderate mental retardation, conotruncal heart defect and facial anomalies (PMID: 23403903)
    Remark(s)