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GENATLAS PHENOTYPE
last update : 11-12-2012
Symbol NF2
Location 22q12.2
Name neurofibromatosis 2
Other name(s)
  • bilateral acoustic neuroma
  • neurofibromatosis, central type
  • acoustic Schwannomas, bilateral
    • Corresponding gene NF2
    related resource Neurofibromatosis Type II
    Other symbol(s) ACN, ACNS, BANF
    Main clinical features
  • tumors of neural-crest origin cells, with biallelic inactivation in schwannomas, meningiomas, mesotheliomas, and testicular anomalies such as presenile lens opacities, and retinal hamartomas, (merlin/Schwannomin defect)
  • associated lesions: juvenile posterior subcapsular cataracts, epiretinal membranes, and an intrascleral schwannoma PMID:17353411
    • Genetic determination autosomal dominant
    Prevalence 1 in 25,000 live births
    Function/system disorder neurology
    Type disease
    Gene product
    Name neurofibromin 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   unknown mild form (60p100 of familial cases)
    abnormal splicing   unknown severe form for exons 1 to 5 (25 p100 of familial cases )
    frameshift   unknown high prevalence of intracranial meningiomas
    missense   abnormal protein/loss of function mild form
    Remark(s) . missense mutations in the NF2 gene encode for mutant merlin that is functionally competent and intrinsic mutant merlin functional loss does not underlie the pathogenesis of NF2 tumor formation (PMID: 21383154))