retinitis pigmentosa 68
MONDO:0014323Mondo
Findings
No curated finding names retinitis pigmentosa 68 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 SLC7A14 gene.
Definition from the Mondo Disease Ontology (MONDO:0014323), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- NyctalopiaHPOHP:0000662
- 1 of 1 reported patient · Childhood onset
- Reduced visual acuityHPOHP:0007663
- 1 of 1 reported patient
- Retinal atrophyHPOHP:0001105
- 1 of 1 reported patient
- Rod-cone dystrophyHPOHP:0000510
- 1 of 1 reported patient
- Spicular pigmentation of the retinaHPOHP:0007737
- 1 of 1 reported patient
- Visual field defectHPOHP:0001123
- 1 of 1 reported patient · Childhood onset
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.
- SLC7A14HGNC:29326
- Strong · G2P · Autosomal recessive · 2017
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
- Limited · PanelApp Australia · Autosomal recessive · 2025
- Disputed Evidence · ClinGen · Autosomal recessive · 2026
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 68
- Also called
- retinitis pigmentosa caused by mutation in SLC7A14retinitis pigmentosa type 68RP68SLC7A14 retinitis pigmentosa