QDPR
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
QDPR (HGNC:9752) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
quinoid dihydropteridine reductase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
DHPR, PKU2, SDR33C1
%HI
24.03(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.99(Read more about gnomAD LOEUF score)
Cytoband
4p15.32
Genomic Coordinates
GRCh37/hg19: chr4:17488018-17513713 NCBI Ensembl UCSC
GRCh38/hg38: chr4:17486395-17512090 NCBI Ensembl UCSC
MANE Select Transcript
NM_000320.3 ENST00000281243.10 (Read more about MANE Select)
Function
Catalyzes the conversion of quinonoid dihydrobiopterin into tetrahydrobiopterin. {ECO:0000269|PubMed:3033643, ECO:0000269|PubMed:8262916}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20636
ClinGen Curation ID:
CCID:007736
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • dihydropteridine reductase deficiency Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)