EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition
MONDO:1060184Mondo
Findings
No curated finding names EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary cancer predisposition due to variation(s) in the EGLN12 gene, which confers a predisposition to erythrocytosis and pheochromocytoma/paraganglioma.
Definition from the Mondo Disease Ontology (MONDO:1060184), 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.
- EGLN1HGNC:1232
- Definitive · ClinGen · Autosomal dominant · 2025
Where it sits
- A kind of