rhabdoid tumor predisposition syndrome 1
MONDO:0012252Mondo
Findings
No curated finding names rhabdoid tumor predisposition syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012252), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SMARCB1HGNC:11103
- Definitive · Ambry Genetics · Autosomal dominant · 2016
- Definitive · ClinGen · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
7 names
Resolves to: rhabdoid tumor predisposition syndrome 1
- Also called
- familial rhabdoid tumor caused by mutation in SMARCB1familial rhabdoid tumour caused by mutation in SMARCB1rhabdoid tumor predisposition syndrome type 1rhabdoid tumors, somaticrhabdoid tumour predisposition syndrome type 1SMARCB1 familial rhabdoid tumorSMARCB1 familial rhabdoid tumour