retinitis pigmentosa 48
MONDO:0013447Mondo
Findings
No curated finding names retinitis pigmentosa 48 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 GUCA1B gene.
Definition from the Mondo Disease Ontology (MONDO:0013447), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Macular degenerationHPOHP:0000608
- Rod-cone dystrophyHPOHP:0000510
- 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.
- GUCA1BHGNC:4679
- 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 48
- Also called
- GUCA1B retinitis pigmentosaretinitis pigmentosa caused by mutation in GUCA1Bretinitis pigmentosa type 48RP48