Neurotransmitter disorders
Gene: PTSAdded treatable tag. Clinical Genomic Database Comments (NIH/NHGRI): Dietary measures and/or medical treatment (eg, L-dopa, tetrahydrobiopterin) can be beneficialCreated: 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 phenotypeCreated: 25 May 2017, 2:57 p.m.
Comment on phenotypes: Associated to disorders of pterin metabolismCreated: 25 May 2017, 2:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for PTS were set to 8178819; 10220141; 9450907; 27604308;27830117
Phenotypes for PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640; 6-Pyruvoyltetrahydropterin Synthase Deficiency; 6-Pyruvoyl-tetrahydropterin synthase deficiency
This gene has been classified as Green List (High Evidence).
Phenotypes for PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640; 6-Pyruvoyltetrahydropterin Synthase Deficiency
Publications for PTS were set to 8178819; 10220141; 9450907; 27604308
PTS was added to Neurotransmitter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Phenotypes for PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640; 6-Pyruvoyltetrahydropterin Synthase Deficiency
PTS was created by Manju
PTS was added to Neurotransmitter disorderspanel. Sources: Literature