RPE65-related dominant retinopathy
MONDO:0100452Mondo
Findings
No curated finding names RPE65-related dominant retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.
Definition from the Mondo Disease Ontology (MONDO:0100452), 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.
- RPE65HGNC:10294
- Strong · ClinGen · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (1)
Other names
2 names
Resolves to: RPE65-related dominant retinopathy
- Also called
- dominant RPE65 retinopathyRP87