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Neurotransmitter disorders

Gene: QDPR

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotype
Created: 25 May 2017, 3:36 p.m.
Comment on phenotypes: Associated to disorders of pterin metabolism
Created: 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 beneficial
Created: 25 May 2017, 3:26 p.m.
Created: 25 May 2017, 3:26 p.m.

Panel version: 0.61

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 1 Mar 2017, 10:49 a.m.

Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C, 261630
  • Dihydropteridine reductase deficiency
Tags
treatable
OMIM
612676
Clinvar variants
Variants in QDPR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

25 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for QDPR were set to 53532; 49470; 317358; 2785251; 2116088; 7627180; 10029353; 11153907; 11746132; 16917893; 27604308;27830117

25 May 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630; Dihydropteridine reductase deficiency

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630; DIHYDROPTERIDINE REDUCTASE DEFICIENCY

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for QDPR were set to 53532; 49470; 317358; 2785251; 2116088; 7627180; 10029353; 11153907; 11746132; 16917893; 27604308

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for QDPR were set to 53532; 49470; 317358; 2785251; 2116088; 7627180; 10029353; 11153907; 11746132; 16917893

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for QDPR were set to 53532; 49470; 317358; 2785251; 2116088; 7627180; 10029353; 11153907; 11746132; 16917893

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630;DIHYDROPTERIDINE REDUCTASE DEFICIENCY

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

QDPR was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

QDPR was added to Neurotransmitter disorderspanel. Sources: Literature