retinitis pigmentosa 30
MONDO:0011935Mondo
Findings
No curated finding names retinitis pigmentosa 30 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 FSCN2 gene.
Definition from the Mondo Disease Ontology (MONDO:0011935), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- Chorioretinal atrophyHPOHP:0000533
- NyctalopiaHPOHP:0000662
- Childhood onset
- Optic atrophyHPOHP:0000648
- Rod-cone dystrophyHPOHP:0000510
- Spicular pigmentation of the retinaHPOHP:0007737
- Visual impairmentHPOHP:0000505
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.
- FSCN2HGNC:3960
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Limited · G2P · Autosomal dominant · 2017
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Disputed Evidence · Ambry Genetics · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 30
- Also called
- FSCN2 retinitis pigmentosaretinitis pigmentosa caused by mutation in FSCN2retinitis pigmentosa type 30RP30