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GENATLAS PHENOTYPE
last update : 26/09/20011
Symbol ESCS
Location 15q23
Name enhanced S cone syndrome
Corresponding gene NR2E3
Main clinical features
  • absence of rod function
  • a replacement of most L and M cone function by S cone activity
  • variable degrees of retinal degeneration
  • Genetic determination autosomal recessive
    Related entries including Goldmann-Favre syndrome , and Favre hyalideoretinal degeneration
    Function/system disorder eye
    Type disease
    Gene product
    Name nuclear receptor subfamily 2, group E, member 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion     in frame deletion c.[del196-201del6] (p.G66-C67del) causes a retinal developmental abnormality without retinal degeneration (PMID:21364904)
    other     compound heterozygote for c.[119-2A>C]+[del194-202del9] (p.N65-C67del) causes retinal (PMID:21364904)
    Remark(s)