SMARCB1-related tumor predisposition

Hereditary tumor predisposition due to variation(s) in the SMARCB1 gene. Pathogenic germline loss-of-function variants confer autosomal dominant predisposition to schwannomas, meningiomas, rhabdoid tumors and other rare types of tumors. The phenotype correlates with the variant's degree of loss of function: the schwannomatosis phenotype is more commonly observed with partial loss-of-function or hypomorphic variants, while the rhabdoid tumor phenotype is more commonly associated with complete loss-of-function variants.