Neurotransmitter disorders

Gene: PTS

Green List (high evidence)

PTS (6-pyruvoyltetrahydropterin synthase)
EnsemblGeneIds (GRCh38): ENSG00000150787
EnsemblGeneIds (GRCh37): ENSG00000150787
OMIM: 612719, Gene2Phenotype
PTS is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added treatable tag. Clinical Genomic Database Comments (NIH/NHGRI): Dietary measures and/or medical treatment (eg, L-dopa, tetrahydrobiopterin) can be beneficial
Created: 25 May 2017, 2:58 p.m.
Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotype
Created: 25 May 2017, 2:57 p.m.
Comment on phenotypes: Associated to disorders of pterin metabolism
Created: 25 May 2017, 2:56 p.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, A, 261640
  • 6-Pyruvoyltetrahydropterin Synthase Deficiency
  • 6-Pyruvoyl-tetrahydropterin synthase deficiency
Tags
treatable
OMIM
612719
Clinvar variants
Variants in PTS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

25 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PTS were set to 8178819; 10220141; 9450907; 27604308;27830117

25 May 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640; 6-Pyruvoyltetrahydropterin Synthase Deficiency; 6-Pyruvoyl-tetrahydropterin synthase deficiency

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640; 6-Pyruvoyltetrahydropterin Synthase Deficiency

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PTS were set to 8178819; 10220141; 9450907; 27604308

25 May 2017, Gel status: 0

Upload gene information

Louise Daugherty (Genomics England Curator)

PTS was added to Neurotransmitter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640; 6-Pyruvoyltetrahydropterin Synthase Deficiency

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

PTS was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

PTS was added to Neurotransmitter disorderspanel. Sources: Literature