RP1-related recessive retinopathy
MONDO:0800399Mondo
Findings
No curated finding names RP1-related recessive retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant retinopathy caused by variants in the RP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0800399), 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 · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025