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GENATLAS PHENOTYPE
last update : 11-02-2009
Symbol HPE2
Location 2p21
HGNC id 5150
Name holoprosencephaly 2
Corresponding gene SIX3
Other symbol(s) HOL2
Main clinical features
  • syndrome manifested by cleft lip and anterior cleft palate, hypotelorism, microcephaly, mental retardation, scoliosis, and chronic constipation
    • Genetic determination autosomal dominant
    Prevalence 4.7p100 of all holoprosencephaly (Lacbawan 2009
    Related entries including midline cleft syndrome, and Demyer sequence
    Function/system disorder congenital malformation
    neurology
    Type disease
    Gene product
    Name sine oculis homeobox homolog 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     mutation affecting interactions with NR4A3
    missense   abnormal protein/loss of function disruption of DNA binding or of protein stability
    deletion      
    Remark(s)
  • mutations in the Groucho-binding EH1-like motif decreased the ability of SIX3 to repress either BMP or Wnt signaling (Domene 2008)
  • mutations in SIX3 correlate with more severe HPE than with non-chromosomal, non-syndromic HPE overall (Lacbavan 2009)