LRAT

lecithin retinol acyltransferase
OMIM: 604863, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green LRAT in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 14 MIM#613341
  • Retinal dystrophy, early-onset severe MIM#613341
  • Retinitis pigmentosa, juvenile MIM#613341

Red LRAT in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

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

Green LRAT 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
    • Royal Melbourne Hospital
    Phenotypes
    • Leber Congenital Amaurosis
    • Leber congenital amaurosis 14
    • Retinitis pigmentosa, juvenile
    • Retinal dystrophy, early-onset severe, 613341

    Green LRAT in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leber congenital amaurosis 14, 613341 (3)

    Amber LRAT in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.21

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 14, MIM#613341

    Green LRAT in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leber congenital amaurosis 14, 613341 (3)

    Green LRAT in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leber congenital amaurosis 14, 613341 (3)

    Green LRAT in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.6

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Leber congenital amaurosis 14