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  3. PTS
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Childhood onset dystonia, chorea or related movement disorder

Gene: PTS

Green List (high evidence)
PTS (6-pyruvoyltetrahydropterin synthase)
EnsemblGeneIds (GRCh38): ENSG00000150787
EnsemblGeneIds (GRCh37): ENSG00000150787
OMIM: 612719, Gene2Phenotype
PTS is in 11 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
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
OMIM
612719
Clinvar variants
Variants in PTS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to PTS. Mode of inheritance for gene PTS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 6-Pyruvoyltetrahydropterin Synthase Deficiency; Dystonia; 6-Pyruvoyl-tetrahydropterin synthase deficiency; Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS Publications for gene PTS were changed from to 27830117; 9450907; 8178819; 10220141; 27604308

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: PTS was added gene: PTS was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PTS was set to