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Prepair 1000+

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

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Progressive neurometabolic disorder. Typically presents in infancy
HGNC approved symbol/name: PTS
Is the phenotype(s) severe and onset <18yo? Y
Founder variants East Asia
Created: 21 Jan 2025, 2:59 a.m. | Last Modified: 21 Jan 2025, 2:59 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; BH4-deficient hyperphenylalaninemia A, MONDO:0009863

Publications

History Filter Activity

23 Jan 2025, 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).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTS were changed from Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTS were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) for gene: PTS

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTS was added gene: PTS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)