PTS

6-pyruvoyltetrahydropterin synthase
OMIM: 612719, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green PTS in Neurotransmitter disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.11	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 1.152	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Red PTS in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	Unknown	Sources Expert Review Red Phenotypes Dystonia
Green PTS in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	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 Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) 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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
Green PTS in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders 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 Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	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 Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	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