Adult onset movement disorderGene: QDPR
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Hyperphenylalaninemia, BH4-deficient, C, 261630
Mode of inheritance for gene: QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: qdpr has been classified as Amber List (Moderate Evidence).
Added phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 for gene: QDPR Publications for gene QDPR were changed from to 19491146; 26919687; 10677304
Source NHS GMS was added to QDPR.
Source South West GLH was added to QDPR.
gene: QDPR was added gene: QDPR was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: QDPR was set to Phenotypes for gene: QDPR were set to Dystonia