Dystonia - childhood onset

Gene: PTS

Green List (high evidence)

PTS (6-pyruvoyltetrahydropterin synthase)
EnsemblGeneIds (GRCh38): ENSG00000150787
EnsemblGeneIds (GRCh37): ENSG00000150787
OMIM: 612719, Gene2Phenotype
PTS is in 12 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 6-Pyruvoyltetrahydropterin Synthase Deficiency
  • Hyperphenylalaninemia, BH4-deficient, A, 261640
  • Dystonia
  • 6-Pyruvoyl-tetrahydropterin synthase deficiency
Tags
treatable
OMIM
612719
Clinvar variants
Variants in PTS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Added Tag

Eleanor Williams (Genomics England Curator)

Tag treatable tag was added to gene: PTS.

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: PTS was added gene: PTS was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTS were set to 9450907; 10220141; 27604308; 27830117; 8178819 Phenotypes for gene: PTS were set to 6-Pyruvoyltetrahydropterin Synthase Deficiency; Hyperphenylalaninemia, BH4-deficient, A, 261640; Dystonia; 6-Pyruvoyl-tetrahydropterin synthase deficiency