POLD1-related polyposis and colorectal cancer syndrome
MONDO:0100351Mondo
Findings
No curated finding names POLD1-related polyposis and colorectal cancer syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant hereditary syndrome caused by germline pathogenic POLD1 variants. It is characterized by the presence of colorectal polyps and colorectal cancer.
Definition from the Mondo Disease Ontology (MONDO:0100351), 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.
- POLD1HGNC:9175
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025