SMARCB1

1 article(s) in the watch · Constitutional genetics

SMARCB1 encodes a subunit of the SWI/SNF chromatin-remodelling complex. Germline variants predispose to rhabdoid tumours and schwannomatosis.

InheritanceAutosomal dominant

Clinical spectrumRhabdoid tumours (paediatric), schwannomatosis

ManagementSurveillance tailored to age and phenotype.

Curated publications

Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.

Coffin-Siris syndrome and SMARCB1-associated developmental disorders