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 1.45

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

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Bothnia retinal dystrophy
  • Fundus albipunctatus
  • Newfoundland rod - cone dystrophy
  • Retinitis punctata albescens
  • Fundus albipunctatus, 136880
  • Fundus Albipunctatus
  • Eye Disorders
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Red RLBP1 in Structural eye disease


Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

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