retinitis pigmentosa 67
MONDO:0014256Mondo
Findings
No curated finding names retinitis pigmentosa 67 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 NEK2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014256), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
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
- 1 of 1 reported patient
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.
- NEK2HGNC:7745
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
- Limited · G2P · Autosomal recessive · 2017
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 67
- Also called
- NEK2 retinitis pigmentosaretinitis pigmentosa caused by mutation in NEK2retinitis pigmentosa type 67RP67