SMARCB1-related schwannomatosis
MONDO:0024517Mondo
Findings
No curated finding names SMARCB1-related schwannomatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
3 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.
- Peripheral schwannomaHPOHP:0009593
- 2 of 2 reported patients
- Spinal cord tumorHPOHP:0010302
- 1 of 2 reported patients
- Vestibular schwannomaHPOHP:0009588
- 0 of 2 reported patients
Genes
2 genes
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.
Where it sits
- A kind of
Other names
3 names
Resolves to: SMARCB1-related schwannomatosis
- Also called
- schwannomatosis 1schwannomatosis, somaticSWNTS1