LZTR1-related schwannomatosis
MONDO:0014299Mondo
Findings
No curated finding names LZTR1-related schwannomatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Adult 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.
- SchwannomaHPOHP:0100008
- 23 of 23 reported patients
- Spinal cord tumorHPOHP:0010302
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.
- LZTR1HGNC:6742
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: LZTR1-related schwannomatosis
- Also called
- schwannomatosis 2Schwannomatosis type 2