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Aminoacidopathy

Gene: PTS

Green List (high evidence)
PTS (6-pyruvoyltetrahydropterin synthase)
EnsemblGeneIds (GRCh38): ENSG00000150787
EnsemblGeneIds (GRCh37): ENSG00000150787
OMIM: 612719, Gene2Phenotype
PTS is in 15 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene-disease association. >5 unrelated individuals reported with a biochemical phenotype. LoF is the mechanism of disease.

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 22/12/2017
https://search.clinicalgenome.org/CCID:005931
Sources: ClinGen
Created: 9 Jul 2024, 3:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
BH4-deficient hyperphenylalaninemia A MONDO:0009863

Publications

Created: 9 Jul 2024, 3:29 a.m.

Panel version: 1.66

History Filter Activity

14 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: PTS was added gene: PTS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTS were set to 22729819; 21542064; 20059486 Phenotypes for gene: PTS were set to BH4-deficient hyperphenylalaninemia A MONDO:0009863 Review for gene: PTS was set to GREEN