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

OAT

ornithine aminotransferase
OMIM: 613349, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green OAT in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870

Green OAT in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870

Red OAT in Skeletal dysplasia

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

review Not set
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Gyrate atrophy of choroid and retina with or without ornithinemia 258870

Green OAT 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
    • Gyrate atrophy of choroid and retina

    Green OAT in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.46

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870

    Red OAT in Hyperammonaemia


    Level 2: Metabolic disorders
    Version 0.10

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Gyrate atrophy of choroid and retina with or without ornithinemia 258870

    Red OAT in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Gyrate atrophy of choroid and retina with or without ornithinemia (MIM#258870)

    Green OAT in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • ornithine aminotransferase deficiency MONDO:0009796

    Green OAT in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870
    Tags
    • treatable
    • metabolic