Genes in panel

Adult onset movement disorder

Gene: PTS

Amber List (moderate evidence)

PTS (6-pyruvoyltetrahydropterin synthase)
EnsemblGeneIds (GRCh38): ENSG00000150787
EnsemblGeneIds (GRCh37): ENSG00000150787
OMIM: 612719, Gene2Phenotype
PTS is in 12 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

I don't know

Hyperphenylalaninemia typically presents in infancy. There are reports of adult onset phenotype in mild PKU, a related disorder. Detected on heel prick test in newborns?
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
Hyperphenylalaninemia, BH4-deficient, A, 261640

Publications

History Filter Activity

27 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pts has been classified as Amber List (Moderate Evidence).

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS Publications for gene PTS were changed from to 26919687

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PTS.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to PTS.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PTS was added gene: PTS was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: PTS was set to Phenotypes for gene: PTS were set to Dystonia