PROM1-related dominant retinopathy
MONDO:1040053Mondo
Findings
No curated finding names PROM1-related dominant retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any retinopathy caused by an autosomal dominant variant in the PROM1 gene.
Definition from the Mondo Disease Ontology (MONDO:1040053), 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.
- PROM1HGNC:9454
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (2)