Adult onset movement disorderGene: PTS
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.
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.
Hyperphenylalaninemia, BH4-deficient, A, 261640
Gene: pts has been classified as Amber List (Moderate Evidence).
Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS Publications for gene PTS were changed from to 26919687
Source NHS GMS was added to PTS.
Source South West GLH was added to PTS.
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