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
|
Name
| tyrosine kinase receptor
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
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 |