RLBP1

retinaldehyde binding protein 1
OMIM: 180090, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RLBP1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fundus albipunctatus MIM#136880
  • Bothnia retinal dystrophy MIM#607475

Green RLBP1 in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.147

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis punctata albescens
    • Newfoundland rod - cone dystrophy
    • Fundus albipunctatus, 136880
    • Fundus albipunctatus
    • Bothnia retinal dystrophy

    Green RLBP1 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.45

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Fundus albipunctatus
    • Newfoundland rod - cone dystrophy
    • Fundus albipunctatus, 136880
    • Bothnia retinal dystrophy
    • Retinitis punctata albescens

    Green RLBP1 in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.6

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Other disorders of vitamin metabolism
    • RLBP1-related retinopathy MONDO:0100444