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GENATLAS PHENOTYPE
last update : 15/09/07
Symbol LEOPS2
Location 3p25.2
Name Leopard syndrome 2
Corresponding gene RAF1
Main clinical features
  • multiple lentigines syndrome, ocular hypertelorism, pulmonary stenosis, aneurysms, abonormal genitalia, growth retardation, skeletal abnormalities, neurosensory deafness and mental retardation
  • associated to hypertrophic cardiomyopathy
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    dermatology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function  
    Remark(s)
    Genotype/Phenotype correlations mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy, whereas affected individuals with mutations leading to changes in the CR3 domain did not