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  3. PTS
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Likely inborn error of metabolism

Gene: PTS

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

2 reviews

Ivone Leong (Genomics England Curator)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Created: 19 Sep 2019, 2:31 p.m. | Last Modified: 19 Sep 2019, 2:31 p.m.
Panel Version: 1.265
Comment on list classification: Promoted from Amber to Green. PTS is associated with an appropriate phenotype on OMIM and Gene2Phenotype. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Created: 13 Sep 2019, 2:33 p.m. | Last Modified: 13 Sep 2019, 2:33 p.m.
Panel Version: 1.264
Created: 13 Sep 2019, 2:33 p.m.
Last Modified: 13 Sep 2019, 2:33 p.m.
Panel version: 1.265

Sarah Leigh (Genomics England Curator)

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:02 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Created: 6 Jan 2017, 2:02 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

Details

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

History Filter Activity

13 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pts has been classified as Green List (High Evidence).

13 Sep 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PTS were changed from Intellectual disability; 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism) to Intellectual disability; 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism); Hyperphenylalaninemia, BH4-deficient, A 261640

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PTS. Source London North GLH was added to PTS.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: PTS was added gene: PTS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTS were set to 27604308 Phenotypes for gene: PTS were set to Intellectual disability; 6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism)