PanelApp
  1. Genes and Genomic Entities
  2. RDH12

RDH12

retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
OMIM: 608830, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green RDH12 in Mendeliome


Version 1.3512

2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 13, MIM# 612712
  • Retinitis pigmentosa, autosomal dominant

Red RDH12 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.346

1 review Not set
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services

Green RDH12 in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.182

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Leber congenital amaurosis 13, 612712
    • RDH12-related recessive retinopathy MONDO:0800099

    Green RDH12 in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 0.80

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Leber congenital amaurosis 13, 612712
    • Retinitis Pigmentosa

    Green RDH12 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.56

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Leber congenital amaurosis 13, 612712

    Green RDH12 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leber congenital amaurosis 13, 612712 (3)

    Green RDH12 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 13, MIM# 612712

    Green RDH12 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leber congenital amaurosis 13, MIM#612712

    Green RDH12 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leber congenital amaurosis 13, MIM#612712

    Green RDH12 in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Leber congenital amaurosis 13 MONDO:0012990
    • Other disorders of vitamin metabolism