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  3. QDPR
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Aminoacidopathy

Gene: QDPR

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene disease association. LoF is a mechanism of disease.

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 18/06/2018
https://search.clinicalgenome.org/CCID:005939
Sources: ClinGen
Created: 9 Jul 2024, 5:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
dihydropteridine reductase deficiency MONDO:0009862

Publications

Created: 9 Jul 2024, 5:09 a.m.

Panel version: 1.66

History Filter Activity

14 Jul 2024, 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).

14 Jul 2024, 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).

9 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: QDPR was added gene: QDPR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QDPR were set to 14114862; 3033643; 11153907; 9341885; 19099731 Phenotypes for gene: QDPR were set to dihydropteridine reductase deficiency MONDO:0009862 Review for gene: QDPR was set to GREEN