PTS

6-pyruvoyltetrahydropterin synthase
OMIM: 612719, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green PTS in Neurotransmitter disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.4

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, A, 261640
  • 6-Pyruvoyltetrahydropterin Synthase Deficiency
  • 6-Pyruvoyl-tetrahydropterin synthase deficiency
Tags
  • treatable

Red PTS in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.81

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Red PTS in Neurodegenerative disorders - adult onset


Version 2.4
Signed off v.2.2 on 2 Mar 2020

review Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia

Green PTS in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.414

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism)
  • Intellectual disability
  • Hyperphenylalaninemia, BH4-deficient, A 261640

Green PTS in Inborn errors of metabolism


Version 2.8
Signed off v.2.3 on 17 Feb 2020

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
    • 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism)
    • Hyperphenylalaninemia, BH4-deficient, A 261640

    Green PTS in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY

    Green PTS in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640

    Green PTS in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.69
    Signed off v.2.2 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, A, 261640

    Green PTS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.73
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY

    Amber PTS in Adult onset movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

    review Not set
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, A, 261640
    • Dystonia

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


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • 6-Pyruvoyltetrahydropterin Synthase Deficiency
    • Dystonia
    • 6-Pyruvoyl-tetrahydropterin synthase deficiency
    • Hyperphenylalaninemia, BH4-deficient, A, 261640

    Green PTS in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperphenylalaninemia, BH4-deficient, A, 261640