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GENATLAS PHENOTYPE

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
	neoplasia
Type	susceptibility factor

Gene product

Name	tumor-suppressor gene, member of the ATP-dependent SWI-SNF chromatin remodeling complex

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
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