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GENATLAS PHENOTYPE
last update : 17-01-2015
Symbol RP35
Location 1q22
Name retinitis pigmentosa 35
Corresponding gene SEMA4A
Main clinical features
  • characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment
    • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     R713Q in the cytoplasmic tail
    Remark(s)