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  3. QDPR
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Early-onset Parkinson disease

Gene: QDPR

Green List (high evidence)
QDPR (quinoid dihydropteridine reductase)
EnsemblGeneIds (GRCh38): ENSG00000151552
EnsemblGeneIds (GRCh37): ENSG00000151552
OMIM: 612676, Gene2Phenotype
QDPR is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Movement disorders including parkinsonism are a feature of this disorder.
Created: 19 Jul 2022, 8:45 a.m. | Last Modified: 19 Jul 2022, 8:45 a.m.
Panel Version: 0.169

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphenylalaninemia, BH4-deficient, C, MIM#261630

Created: 19 Jul 2022, 8:45 a.m.
Last Modified: 19 Jul 2022, 8:45 a.m.
Panel version: 0.169

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 2:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dehydropteridin reductase deficiency, Infantile-onset dystonia; Parkinsonism; Epilepsy; Autonomic dysfunction; Hyperphenylalaninemia; OMIM 261360

Publications

Created: 17 Jul 2022, 2:30 p.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C, MIM#261630
  • Dehydropteridin reductase deficiency, Infantile-onset dystonia
  • Parkinsonism
  • Epilepsy
  • Autonomic dysfunction
  • Hyperphenylalaninemia
OMIM
612676
Clinvar variants
Variants in QDPR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: qdpr has been classified as Green List (High Evidence).

19 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: QDPR were changed from Dehydropteridin reductase deficiency, Infantile-onset dystonia; Parkinsonism; Epilepsy; Autonomic dysfunction; Hyperphenylalaninemia; OMIM 261360 to Hyperphenylalaninemia, BH4-deficient, C, MIM#261630; Dehydropteridin reductase deficiency, Infantile-onset dystonia; Parkinsonism; Epilepsy; Autonomic dysfunction; Hyperphenylalaninemia

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: qdpr has been classified as Green List (High Evidence).

17 Jul 2022, Gel status: 0

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: QDPR was added gene: QDPR was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QDPR were set to PMID: 28413401 Phenotypes for gene: QDPR were set to Dehydropteridin reductase deficiency, Infantile-onset dystonia; Parkinsonism; Epilepsy; Autonomic dysfunction; Hyperphenylalaninemia; OMIM 261360 Review for gene: QDPR was set to GREEN