TH

tyrosine hydroxylase
OMIM: 191290, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green TH in Neurotransmitter disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Segawa syndrome, recessive, 605407
  • Tyrosine Hydroxylase Deficiency
  • DOPA-responsive dystonia
Tags
  • treatable

Green TH in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Segawa syndrome, recessive, 605407
  • paediatric form of dopa responsive dystonia
  • infantile parkinsonism

Green TH in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.93

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Segawa syndrome, recessive, 605407
  • paediatric form of dopa responsive dystonia
  • Segawa syndrome
  • DOPA-responsive dystonia
Tags
  • treatable

Red TH in Neurodegenerative disorders - adult onset


Version 2.57
Latest signed off version: v2.56 (16 Dec 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Segawa syndrome
  • DOPA-responsive dystonia
  • infantile parkinsonism
  • Segawa syndrome, recessive, 605407
  • paediatric form of dopa responsive dystonia
Tags
  • treatable

Amber TH in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.450

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines)
  • Early onset dystonia
  • Intellectual disability
  • Parkinson Disease and Complex Parkinsonism

Green TH in Inborn errors of metabolism


Version 2.105
Latest signed off version: v2.104 (16 Dec 2021)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Intellectual disability
    • Early onset dystonia
    • Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines)
    • Parkinson Disease and Complex Parkinsonism
    Tags
    • treatable

    Red TH in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • DOPA-RESPONSIVE DYSTONIA

    Green TH in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DOPA-RESPONSIVE DYSTONIA 605407

    Green TH in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • DOPA-RESPONSIVE DYSTONIA

    Red TH in Adult onset movement disorder


    Version 1.82
    Latest signed off version: v1.81 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Segawa syndrome
    • paediatric form of dopa responsive dystonia
    • infantile parkinsonism
    • DOPA-responsive dystonia
    • Segawa syndrome, recessive, 605407

    Green TH in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • DOPA-responsive dystonia
    • Segawa syndrome, recessive, 605407
    • Tyrosine Hydroxylase Deficiency
    • Segawa syndrome
    • paediatric form of dopa responsive dystonia

    Green TH in Severe Paediatric Disorders


    Version 1.66

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Segawa syndrome, recessive, 605407

    Green TH in NewbornFullV1


    Version 0.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green