PTS

6-pyruvoyltetrahydropterin synthase
OMIM: 612719, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green PTS 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services

    Red PTS in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.99

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640

    Green PTS in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
    Tags
    • treatable

    Green PTS 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
    Tags
    • treatable

    Green PTS 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, A, MIM# 261640
    Tags
    • treatable

    Green PTS in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

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

    Green PTS 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
    • Hyperphenylalaninaemia, BH4-deficient, A, MIM# 261640
    Tags
    • treatable

    Green PTS in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.272

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, A, 261640
    • 6-Pyruvoyltetrahydropterin Synthase Deficiency
    • Dystonia
    Tags
    • treatable

    Green PTS 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
    • Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)

    Green PTS in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, A

    Green PTS in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640

    Green PTS in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640

    Green PTS in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.133

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • BH4-deficient hyperphenylalaninemia A MONDO:0009863

    Green PTS in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, A, MIM#261640
    Tags
    • treatable
    • metabolic

    Green PTS in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)