rhabdoid tumor predisposition syndrome 2
Findings
No curated finding names rhabdoid tumor predisposition syndrome 2 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 SMARCA4 gene.
Definition from the Mondo Disease Ontology (MONDO:0013224), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Atypical teratoid/rhabdoid tumorHPOHP:0034401
- 1 of 2 reported patients
- Rhabdoid tumor of the kidneyHPOHP:0034402
- 1 of 2 reported patients
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.
- SMARCA4HGNC:11100
- Definitive · ClinGen · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
6 names
Resolves to: rhabdoid tumor predisposition syndrome 2
- Also called
- familial rhabdoid tumor caused by mutation in SMARCA4familial rhabdoid tumour caused by mutation in SMARCA4rhabdoid tumor predisposition syndrome type 2rhabdoid tumour predisposition syndrome type 2SMARCA4 familial rhabdoid tumorSMARCA4 familial rhabdoid tumour