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References OMIM Gene GeneReviews HGMD HGNC
last update : 13-05-2019
Symbol SCWT
Location 22q11.23
Name schwannomatosis
Other name(s) neurilemmomatosis, congenital, cutaneous
Corresponding gene SMARCB1 , NF2
Main clinical features multiple spinal, peripheral, and cranial-nerve schwannomas in the absence of vestibular tumors
Genetic determination autosomal dominant
Function/system disorder neurology
Type susceptibility factor
Gene product
Name tumor-suppressor gene, member of the ATP-dependent SWI-SNF chromatin remodeling complex
Gene mutationChromosome rearrangementEffectComments
nonsense   truncated protein inactivating C->T germline mutation in exon 1 of SMARCB1 in one family
Remark(s) somatically acquired mutations have been reported to accumulate in the NF2 gene in schwannomas