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GENATLAS PHENOTYPE
last update : 1/09/2006
Symbol PHS
Location 7p14.1
Name Pallister-Hall syndrome 1
Corresponding gene GLI3
Other symbol(s) PHS1
Main clinical features
  • hypothalamic hamartoma, polydactyly, imperforate anus, laryngeal clefting, and other anomalies.
  • Genetic determination autosomal dominant
    Related entries . including the PIV (polydactyly, imperforate anus and vertebral malformation)
    Function/system disorder congenital malformation
    Type malformation
    Gene product
    Name zinc-finger transcription factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein mutations in the middle third of the gene
    deletion     3386_3387 delTT associated with skeletal anomalies
    Remark(s) allelic disorder to Greig cephalopolysyndactyly syndrome