RDH5:Ensemblv90

retinol dehydrogenase 5
OMIM: 601617, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green RDH5 in Mendeliome


Version 1.3802

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fundus albipunctatus (MIM#136880)

Green RDH5 in Congenital Stationary Night Blindness


Level 2: Ophthalmological disorders
Version 0.23

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Fundus albipunctatus (MIM#136880)
    • Congenital Stationary Night Blindness

    Red RDH5 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.23

    3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fundus albipunctatus, MIM# 136880

    Green RDH5 in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Fundus albipunctatus
    • Other disorders of vitamin metabolism

    Green RDH5 in Congenital Stationary Night Blindness


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Fundus albipunctatus (MIM#136880)
    • Congenital Stationary Night Blindness

    Red RDH5 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 2.0

    3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert Review Red
    Phenotypes
    • Fundus albipunctatus, MIM# 136880

    Green RDH5 in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 2.0

    0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Fundus albipunctatus
    • Other disorders of vitamin metabolism