Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 06/05/2012
Symbol HGPPS
Location 11q24.2
HGNC id 20666
Name gaze palsy, familial horizontal, with progressive scoliosis
Corresponding gene ROBO3
Main clinical features
  • brainstem hypoplasia and mal development of neurons in the abducens nuclei and caudal longitudinal fascicle on MRI and my be lesion in the supranuclear areas of the pons
  • hypoplasia of the frontal lobes and corpus callosum (PMID:21850172))
    • Genetic determination autosomal recessive
    Function/system disorder eye
    neurology
    Type disease
    Gene product
    Name roundabout, axon guidance receptor, homolog 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    insertion-deletion     c.913delAinsTGC; p.Ile305CysfsX13 (PMID:21850172)
    deletion     c.2769_2779del11, 2779+1_+20del20 (PMID:21850172)
    missense     c.3319A>C resulting in skipping of exon 22 (PMID:21850172)
    Remark(s)
    Genotype/Phenotype correlations E319Kappa mutation show normal perceptual and cognitive functions and have both crossed and uncrossed motor, sensory and auditory pathways