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GENATLAS PHENOTYPE
last update : 02/09/2010
Symbol RP1
Location 8q12.1
Name retinitis pigmentosa 1
Corresponding gene RP1
related resource Retinal Information Network
Main clinical features
  • autosomal dominant: mild phenotype or
  • autosomal recessive with early onset: characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment
    • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name oxygen regulated photoreceptor protein 1 (ORP1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function missense codon 373 in autosomal recessive form
    other   abnormal protein/loss of function missense A669T substitution in autosomal dominant form
    insertion   unknown  
    deletion   under-expression nonsense-mediated mRNA decay (NMD)-sensitive mutation
    Remark(s) RP1 compound heterozygous nonsense mutations in a Chinese pedigree leads to autosomal recessive retinitis pigmentosa