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GENATLAS PHENOTYPE
last update : 16/10/2008
Symbol NBL2
Location 2p24.3
Name neuroblastoma
Corresponding gene ALK
Other symbol(s) NBL
Main clinical features
  • cancer predisposition
  • embryonal tumor of the peripheral sympathetic nervous system
  • most common childhood cancer diagnosed before the age of one
    • Genetic determination autosomal dominant
    Prevalence mutation found in 10 out of 16 pedigrees
    Function/system disorder neurology
    Type malignancy
    Gene product
    Name tyrosine kinase receptor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function germinal mutations with inherited genetic predisposition in familial or apparently sporadic forms
    various types   abnormal protein/gain of function somatic mutations in sporadic forms
    Remark(s) main non-syndromic neuroblastoma-predisposition gene
    Genotype/Phenotype correlations penetrance could be around 56p.100