OTC

ornithine carbamoyltransferase
OMIM: 300461, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green OTC in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ornithine transcarbamylase deficiency, 311250
Tags
  • gene-therapy-trial

Green OTC in Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.7

review Not set
Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Late-Onset OTC Deficiency

Green OTC in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.457

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias)
  • Ornithine transcarbamylase deficiency, 311250
Tags
  • gene-therapy-trial

Green OTC in Inborn errors of metabolism


Version 2.134
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Ornithine transcarbamylase deficiency, 311250
    • Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias)

    Red OTC in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ORNITHINE TRANSCARBAMYLASE DEFICIENCY

    Green OTC in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250

    Green OTC in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1075
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • CGD Ornithine transcarbamylase deficiency, 311250
    • ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    Tags
    • gene-therapy-trial

    Red OTC in Childhood onset dystonia or chorea or related movement disorder


    Version 1.103
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green OTC in Severe Paediatric Disorders


    Version 1.77

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ornithine transcarbamylase deficiency, 311250