RLBP1

retinaldehyde binding protein 1
OMIM: 180090, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red RLBP1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green RLBP1 in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Fundus albipunctatus, OMIM:136880
  • Retinitis punctata albescens, OMIM:136880
  • Bothnia retinal dystrophy, OMIM:607475
  • Newfoundland rod-cone dystrophy, OMIM:607476
Tags
  • Q3_25_MOI
Red RLBP1 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • 136880
  • Eye Disorders
  • Newfoundland rod-cone dystrophy, Fundus albipunctatus
  • Bothnia retinal dystrophy
  • 607475
  • 607476