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This Panel is marked as Internal

Newborns main panel
Gene: QDPR

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

https://search.clinicalgenome.org/kb/genes/HGNC:9752 PMID: 23138986 - 6 casesPMID: 36382472 - 4 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Hyperphenylalaninemia due to dihydropteridine reductase deficiency

OMIM

Clinvar variants

Variants in QDPR

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperphenylalaninemia due to dihydropteridine reductase deficiency for gene: QDPR

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperphenylalaninemia due to dihydropteridine reductase deficiency for gene: QDPR

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperphenylalaninemia due to dihydropteridine reductase deficiency for gene: QDPR

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to QDPR. Added phenotypes Hyperphenylalaninemia due to dihydropteridine reductase deficiency for gene: QDPR Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: QDPR was added gene: QDPR was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: QDPR were set to Hyperphenylalaninemia due to dihydropteridine reductase deficiency