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GENATLAS PHENOTYPE
last update : 18-04-2011
Symbol USH1F
Location 10q21.1
Name Usher syndrome type 1F
Corresponding gene PCDH15
related resource Genetics hearing impairment
Retinal Information Network
Main clinical features
  • characterized by profound congenital neurosensory deafness, constant vestibular dysfunction and retinitis pigmentosa of prepubertal onset, leading to blindness
  • Genetic determination autosomal recessive
    Function/system disorder ear
    eye
    Type disease
    Gene product
    Name protocadherin 15
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function  
    deletion   abnormal protein/loss of function deletion of 55 kb
    duplication   abnormal protein/loss of function duplication of 82 kb
    Remark(s)