This Panel is marked as Internal
Dystonia - childhood onset
Gene: QDPR
QDPR (quinoid dihydropteridine reductase)
EnsemblGeneIds (GRCh38): ENSG00000151552
EnsemblGeneIds (GRCh37): ENSG00000151552
OMIM: 612676, Gene2Phenotype
QDPR is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000151552
EnsemblGeneIds (GRCh37): ENSG00000151552
OMIM: 612676, Gene2Phenotype
QDPR is in 11 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hyperphenylalaninemia, BH4-deficient, C, 261630
- Dystonia
- Dihydropteridine reductase deficiency
- OMIM
- 612676
- Clinvar variants
- Variants in QDPR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Neurotransmitter disorders
- Likely inborn error of metabolism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- DDG2P
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: QDPR was added gene: QDPR was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QDPR were set to 7627180; 317358; 10029353; 27830117; 11153907; 27604308; 11746132; 2785251; 16917893; 49470; 53532; 2116088 Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630; Dystonia; Dihydropteridine reductase deficiency