retinitis pigmentosa 60
MONDO:0013516Mondo
Findings
No curated finding names retinitis pigmentosa 60 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 PRPF6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013516), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 1 of 1 reported patient
- Constriction of peripheral visual fieldHPOHP:0001133
- 2 of 2 reported patients
- NyctalopiaHPOHP:0000662
- 2 of 2 reported patients
- Peripheral visual field lossHPOHP:0007994
- 2 of 2 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 2 reported patients
- Retinal pigment epithelial atrophyHPOHP:0007722
- 1 of 1 reported patient
- Rod-cone dystrophyHPO
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.
- PRPF6HGNC:15860
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · G2P · Autosomal dominant · 2017
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 60
- Also called
- PRPF6 retinitis pigmentosaretinitis pigmentosa caused by mutation in PRPF6retinitis pigmentosa type 60RP60