Adult onset dystonia, chorea or related movement disorder
Gene: QDPREnsemblGeneIds (GRCh38): ENSG00000151552
EnsemblGeneIds (GRCh37): ENSG00000151552
OMIM: 612676, Gene2Phenotype
QDPR is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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)
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
Phenotypes
Hyperphenylalaninemia, BH4-deficient, C, 261630
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- South West GLH
- Phenotypes
-
- Hyperphenylalaninemia, BH4-deficient, C, 261630
- Dystonia
- OMIM
- 612676
- Clinvar variants
- Variants in QDPR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Neurotransmitter disorders
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: qdpr has been classified as Amber List (Moderate Evidence).
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 for gene: QDPR Publications for gene QDPR were changed from to 19491146; 26919687; 10677304
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to QDPR.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to QDPR.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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