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GENATLAS PHENOTYPE
last update : 11-01-2012
Symbol DEL20P12
Location 20p12.3
Name chromosome 20p12 interstitial deletions
Corresponding gene JAG1 , BMP2
Main clinical features
  • variable dysmorphisms and neurocognitive delays
  • associated with predisposition to WPWS
  • see Alagille syndrome (ALGS) and Wolff-Parkinson-White syndrome 2 (WPW2)
  • syndromic forms of cleft palate PMID: 21671386
  • Genetic determination chromosomal
    Related entries WPW2, ALGS
    Function/system disorder cardiovascular
    digestive tract/liver and annex
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency non-recurrent microdeletions, 1.1Mb to 10.7Mb in size
    Remark(s) WPW syndrome is observed only in deletions including BMP2
    Genotype/Phenotype correlations a commonly deleted region of 5.4 Mb (7,383,615-12,746,054) is associated with AGS symptoms only, with normal mental development; deletions which extended outside the critical region are associated with developmental delay and other findings such as autism, scoliosis, and bifid uvula (Kamath 2010)