Childhood onset dystonia, chorea or related movement disorder
Gene: QDPR

QDPR (quinoid dihydropteridine reductase)
EnsemblGeneIds (GRCh38): ENSG00000151552
EnsemblGeneIds (GRCh37): ENSG00000151552
OMIM: 612676, Gene2Phenotype
QDPR is in 11 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Suggested by Huw and Raquel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.

Panel Version: 0.9

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

Dihydropteridine reductase deficiency
Hyperphenylalaninemia, BH4-deficient, C, 261630
Dystonia

OMIM

612676

Clinvar variants

Variants in QDPR

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to QDPR. Mode of inheritance for gene QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dihydropteridine reductase deficiency; Hyperphenylalaninemia, BH4-deficient, C, 261630; Dystonia for gene: QDPR Publications for gene QDPR were changed from to 11746132; 27830117; 2785251; 16917893; 11153907; 49470; 2116088; 7627180; 317358; 53532; 27604308; 10029353

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: QDPR was added gene: QDPR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: QDPR was set to

Childhood onset dystonia, chorea or related movement disorder Gene: QDPR