GCH1

GTP cyclohydrolase 1
OMIM: 600225, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green GCH1 in Neurotransmitter disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.9

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, (AD/AR),128230
  • Dopa-responsive dystonia
  • Hyperphenylalaninemia, BH4-deficient, B, (AR) 233910
  • GTP-cyclohydrolase deficiency
Tags
  • treatable

Green GCH1 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.69

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
  • Hyperphenylalaninemia, BH4-deficient, B, 233910
  • Dopa-Responsive Dystonia (DRD)
  • Dopa-Responsive Dystonia (DRD)

Green GCH1 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.86

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
  • Hyperphenylalaninemia, BH4-deficient, B, 233910
  • Dopa-Responsive Dystonia (DRD)

Amber GCH1 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.219

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dystonia
  • Spastic paraplegia
  • progressive spastic paraplegia
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230

Green GCH1 in Hereditary spastic paraplegia - childhood onset


Version 2.30
Latest signed off version: v2.18 (8 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Literature
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
  • Dystonia
  • progressive spastic paraplegia
  • Spastic paraplegia

Green GCH1 in Hereditary spastic paraplegia - adult onset


Version 1.17
Latest signed off version: v1.12 (15 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • South West GLH
  • North West GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Dystonia
  • progressive spastic paraplegia
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
  • Spastic paraplegia

Green GCH1 in Neurodegenerative disorders - adult onset


Version 2.174
Latest signed off version: v2.31 (8 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230
  • Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910
  • Spastic paraplegia

Green GCH1 in Undiagnosed metabolic disorders

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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230
  • Hyperphenylalaninemia, BH4-deficient, B 233910

Green GCH1 in Inborn errors of metabolism


Version 2.131
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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia

    Red GCH1 in Fetal anomalies


    Version 1.648
    Latest signed off version: v1.92 (21 Aug 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • GTP CYCLOHYDROLASE 1 DEFICIENCY
    • DYSTONIA TYPE 5

    Green GCH1 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DYSTONIA TYPE 5 128230
    • GTP CYCLOHYDROLASE 1 DEFICIENCY 233910

    Amber GCH1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.339
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, B, 233910
    • seizures

    Green GCH1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1068
    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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230Hyperphenylalaninemia, BH4-deficient, B, 233910
    • DYSTONIA TYPE 5 (DYT5)

    Green GCH1 in Adult onset movement disorder


    Version 1.113
    Latest signed off version: v1.14 (15 Oct 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230

    Green GCH1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.100
    Latest signed off version: v1.58 (6 Oct 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dopa-Responsive Dystonia (DRD)
    • Hyperphenylalaninemia, BH4-deficient, B, 233910
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
    • GTP-cyclohydrolase deficiency

    Green GCH1 in Severe Paediatric Disorders


    Version 1.76

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
    • Hyperphenylalaninemia, BH4-deficient, B, 233910