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

How is a SMARCB1-related condition inherited?+

Autosomal dominant

What is the clinical spectrum associated with SMARCB1?+

Rhabdoid tumours (paediatric), schwannomatosis

What is the management associated with SMARCB1?+

Surveillance tailored to age and phenotype.

How many Geno'X publications cover the SMARCB1 gene?+

1 publication(s) on SMARCB1 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).