PRPH2-related retinopathy
MONDO:1040055Mondo
Findings
No curated finding names PRPH2-related retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any retinopathy caused by a variant or variants in the PRPH2 gene.
Definition from the Mondo Disease Ontology (MONDO:1040055), 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.
- PRPH2HGNC:9942
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Definitive · ClinGen · Semidominant · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of