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GENATLAS PHENOTYPE
last update : 20/10/2008
Symbol WPW2
Location 20p12.3
Name Wolff-Parkinson-White syndrome
Corresponding gene BMP2
Main clinical features
  • ventricular preexcitation disorder with specific EKG findings, cognitive delay and dysmorphisms (macrocephaly, down-slanting palpebral fissures, maxillary hypoplasia,microstomia, persistent fetal pads)
  • associated with variable neurocognitive deficits
  • Genetic determination chromosomal
    Related entries ALGS, DEL20Q12
    Function/system disorder cardiovascular
    Type disease
    Gene product
    Name bone morphogenic protein intervening in TGFbeta signaling
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency non-recurrent microdeletions including BMP2, 1.1Mb to 10.7Mb in size
    Remark(s) incomplete penetrance of the cardiac phenotype
    Genotype/Phenotype correlations contiguous gene deletion including BMP2 and JAG1 can result in both WPW and features of Alagille syndrome