retinitis pigmentosa 45
MONDO:0013413Mondo
Findings
No curated finding names retinitis pigmentosa 45 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 CNGB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013413), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Abnormal electroretinogramHPOHP:0000512
- 1 of 1 reported patient
- NyctalopiaHPOHP:0000662
- 1 of 1 reported patient · Childhood onset
- Peripheral visual field lossHPOHP:0007994
- 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
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.
- CNGB1HGNC:2151
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 45
- Also called
- CNGB1 retinitis pigmentosaretinitis pigmentosa caused by mutation in CNGB1retinitis pigmentosa type 45RP45