RPE65-related recessive retinopathy
MONDO:0100368Mondo
Findings
No curated finding names RPE65-related recessive retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene.
Definition from the Mondo Disease Ontology (MONDO:0100368), 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
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (2)
Other names
1 name
Resolves to: RPE65-related recessive retinopathy
- Also called
- recessive RPE65 retinopathy