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References OMIM Gene GeneReviews HGMD HGNC
last update : 01/09/2010
Symbol RP27
Location 14q11.2
Name retinitis pigmentosa 27
Corresponding gene NRL
Other symbol(s) RP30
Main clinical features
  • night blindness since early childhood, and relatively enhanced function of short-wavelength-sensitive cones in the macula
  • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name neural retinal specific transcript (NRL), founder mutation S50T
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mutation altering a conserved residue in the domain involved in DNA-binding site recognition