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GENATLAS PHENOTYPE
last update : 16-03-2011
Symbol CBLS
Location 11q23.3
Name CBL syndrome
Corresponding gene CBL
Main clinical features
  • dysmorphic features, hyperpigmented skin lesions, microcephaly
  • predisposition to juvenile myelomonocytic leukemia PMID: 20543203
    • Genetic determination
    Prevalence In 3 patients with JMML
    Function/system disorder
    hematology
    mental retardation
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     heterozygous germline mutation pY371H
    Remark(s)