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GENATLAS PHENOTYPE
last update : 10/07/2006
Symbol HPE4
Location 18p11.31
HGNC id 5152
Name holoprosencephaly 4
Corresponding gene TGIF1
Main clinical features
  • CNS abnormalities range from alobar (single median ventricle) to semilobar (incomplete separation of two ventricles) and lobar (complete separation but continuity across the cortex
  • large clinical spectrum ranging from severe cerebral/facial malformations including cyclopia and cebocephaly, to microforms defined by normal brain MRI in a patient with midline defects such as ocular hypotelorism, midline cleft lip or palate, flat nose or single central maxillary incisor
  • Genetic determination autosomal dominant
    Function/system disorder congenital malformation
    neurology
    Type disease
    Gene product
    Name TG-interacting factor (TGIF)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency complete or partial deletion of chr18 short arm
      deletion haploinsufficiency cryptic subtelomeric microdeletion of 18p
    various types   haploinsufficiency  
    Remark(s)