1. Genes and Genomic Entities
  2. PTS

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 1.9

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 1.147

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Red PTS in Adult onset neurodegenerative disorder


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

review Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Green PTS in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

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 Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
    Green PTS in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
    Amber PTS in Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    		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, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 1.184

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