retinitis pigmentosa 18
MONDO:0011075Mondo
Findings
No curated finding names retinitis pigmentosa 18 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.
Definition from the Mondo Disease Ontology (MONDO:0011075), 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.
- PRPF3HGNC:17348
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 18
- Also called
- PRPF3 retinitis pigmentosaretinitis pigmentosa caused by mutation in PRPF3retinitis pigmentosa type 18RP18