PanelApp (test)
  1. Genes and Genomic Entities
  2. RBP4

RBP4

retinol binding protein 4
OMIM: 180250, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green RBP4 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microphthalmia, isolated, with coloboma 10 MIM#616428

Green RBP4 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, isolated, with coloboma 10 MIM#616428
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147

Green RBP4 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147

    Green RBP4 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.46

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microphthalmia, isolated, with coloboma 10, MIM# 616428
    • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM# 615147

    Green RBP4 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Microphthalmia, isolated, with coloboma 10 MIM#616428

    Green RBP4 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
    • microphthalmia, isolated, with coloboma 10 MONDO:0014635