Neurotransmitter disorders
Gene: QDPRComment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotypeCreated: 25 May 2017, 3:36 p.m.
Comment on phenotypes: Associated to disorders of pterin metabolismCreated: 25 May 2017, 3:36 p.m.
Added treatable tag. Clinical Genomic Database Comments (NIH/NHGRI): Dietary measures and/or medical treatment (eg, L-dopa, tetrahydrobiopterin) can be beneficialCreated: 25 May 2017, 3:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for QDPR were set to 53532; 49470; 317358; 2785251; 2116088; 7627180; 10029353; 11153907; 11746132; 16917893; 27604308;27830117
Phenotypes for QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630; Dihydropteridine reductase deficiency
This gene has been classified as Green List (High Evidence).
Phenotypes for QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630; DIHYDROPTERIDINE REDUCTASE DEFICIENCY
Publications for QDPR were set to 53532; 49470; 317358; 2785251; 2116088; 7627180; 10029353; 11153907; 11746132; 16917893; 27604308
Publications for QDPR were set to 53532; 49470; 317358; 2785251; 2116088; 7627180; 10029353; 11153907; 11746132; 16917893
Publications for QDPR were set to 53532; 49470; 317358; 2785251; 2116088; 7627180; 10029353; 11153907; 11746132; 16917893
Phenotypes for QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630;DIHYDROPTERIDINE REDUCTASE DEFICIENCY
QDPR was created by Manju
QDPR was added to Neurotransmitter disorderspanel. Sources: Literature