retinitis pigmentosa 27
Findings
No curated finding names retinitis pigmentosa 27 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 NRL gene.
Definition from the Mondo Disease Ontology (MONDO:0013402), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
7 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.
- Rod-cone dystrophyHPOHP:0000510
- 3 of 5 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 2 of 5 reported patients
- NyctalopiaHPOHP:0000662
- 2 of 5 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 5 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 2 of 5 reported patients
- Undetectable electroretinogramHPOHP:0000550
- 2 of 5 reported patients
- Attenuation of retinal blood vesselsHPO
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.
- NRLHGNC:8002
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2017
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 27
- Also called
- NRL retinitis pigmentosaretinitis pigmentosa caused by mutation in NRLretinitis pigmentosa type 27RP27