RP1-related dominant retinopathy
MONDO:0800400Mondo
Findings
No curated finding names RP1-related dominant retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited retinopathy caused by bi-allelic variants in the RP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0800400), 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.
- RP1HGNC:10263
- Definitive · ClinGen · Semidominant · 2022
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · PanelApp Australia · Semidominant · 2025