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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 |