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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-02-2014
Symbol UPD6P
Location 6q24.2
Name chromosome 6 uniparental disomy, paternal
Corresponding gene PLAGL1 , HYMAI
Other symbol(s) patUPD6, pUPD6, TND
Main clinical features
  • complete or partial UPD6pat including band q24 is associated with transient neonatal diabetes
  • other features were intrauterine growth retardation and macroglossia
  • Genetic determination epigenetic
    Related entries TNDM
    Function/system disorder endocrinology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
      uniparental disomy   almost all reported cases of paternal UPD6 are associated with TND
    Remark(s) molecular testing for paternal UPD is indicated in all cases with transient neonatal diabetes (TND)
    Genotype/Phenotype correlations isodisomy may reveal recessive disorders