tumor predisposition syndrome 3
Findings
No curated finding names tumor predisposition syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary cancer predisposition due to variation(s) in the POT1 gene, which confers a predisposition to development of various types of benign and malignant neoplasms.
Definition from the Mondo Disease Ontology (MONDO:0014368), read 2026-09-29. CC BY 4.0.
- 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.
- Gastrointestinal desmoid tumorHPOHP:0100245
- MelanomaHPOHP:0002861
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.
- POT1HGNC:17284
- Definitive · ClinGen · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
10 names
Resolves to: tumor predisposition syndrome 3
- Also called
- CMM10glioma susceptibility 9glioma susceptibility type 9GLM9malignant glioma caused by mutation in POT1melanoma, cutaneous malignant, susceptibility to, 10melanoma, cutaneous malignant, susceptibility to, type 10POT1 tumor predispositionPOT1-related tumor predisposition syndromePOT1-TPD