GCH1

GTP cyclohydrolase 1
OMIM: 600225, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Red GCH1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.32

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review Unknown
    Sources
    • Expert Review Red
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services

    Green GCH1 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.12

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230

    Green GCH1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    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, MIM#128230
    • Hyperphenylalaninemia, BH4-deficient, B, MIM#233910

    Green GCH1 in Mendeliome


    Version 1.2380

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
    • Hereditary spastic paraplegia MONDO:0019064, GCH1-related

    Green GCH1 in Neurotransmitter Defects


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230

    Green GCH1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910

    Green GCH1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GCH1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:0100186

    Green GCH1 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.141

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Tremors_Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Dopa-responsive dystonia
    • exercise-induced dystonia
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230

    Green GCH1 in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.39

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230

    Green GCH1 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.11

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230

    Green GCH1 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Hereditary spastic paraplegia MONDO:0019064, GCH1-related

    Green GCH1 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
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)

    Amber GCH1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    Phenotypes
    • Dystonia, dopa-responsive

    Green GCH1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • GTP cyclohydrolase I deficiency MONDO:0100184

    Green GCH1 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.133

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • GTP cyclohydrolase I deficiency MONDO:0100184

    Green GCH1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category B gene
    • BeginNGS
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
    Tags
    • treatable
    • metabolic

    Green GCH1 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)