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GENATLAS PHENOTYPE
last update : 17-10-2012
Symbol DEL8P23
Location 8p23.1
Name chromosome 8p23.1 deletion
Corresponding gene GATA4 , SOX7
Main clinical features
  • heart defects, including atrial and ventricular septal defects, pulmonary stenosis, and complex cyanotic heart defects
  • diaphragmatic hernia
  • mild mental retardation and behavioral problems
    • Genetic determination chromosomal
    genomic disorder
    Related entries DIH2, INVDUP8P
    Function/system disorder cardiovascular
    multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency genomic disorder, 8p interstitial deletion including GATA4 between OR gene clusters
      deletion   within 8p23.1 to 8pter
    Remark(s) the TNKS gene in 8p23.1 could be a novel candidate gene for CdLS
    Genotype/Phenotype correlations terminal 8p deletions distal to the GATA4 gene result in an overall mild phenotype with slightly dysmorphic features in which cognitive deficits may or may not be present, PMID: 23495222;; congenital heart defects are also observed with more proximal deletions suggesting more proximally located loci