RBP4

retinol binding protein 4
OMIM: 180250, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red RBP4 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.41

review Not set
Sources
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Amber RBP4 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.44

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147

Green RBP4 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.488

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinol binding protein deficiency (Other disorders of vitamins and cofactors)
  • Posterior segment abnormalities

Green RBP4 in Inborn errors of metabolism


Version 2.190
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Retinol binding protein deficiency (Other disorders of vitamins and cofactors)
    • Posterior segment abnormalities

    Green RBP4 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.228
    Latest signed off version: v2.195 (5 Aug 2021)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Achromatopsia, Cone, and Cone-rod Dystrophy
    • Macular Dystrophy/Degeneration/Stargardt Disease
    • Congenital Stationary Night Blindness
    • Retinitis pigmentosa

    Green RBP4 in Structural eye disease


    Version 1.88
    Latest signed off version: v1.3 (4 Mar 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147

    Red RBP4 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.166
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH