Likely inborn error of metabolism - targeted testing not possible
Gene: PTSThis 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
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
Gene: pts has been classified as Green List (High Evidence).
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
Source NHS GMS was added to PTS. Source London North GLH was added to PTS.
Sarah Leigh: Associated with relevant pheno
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)