Brain Calcification
Gene: QDPR
QDPR (quinoid dihydropteridine reductase)
EnsemblGeneIds (GRCh38): ENSG00000151552
EnsemblGeneIds (GRCh37): ENSG00000151552
OMIM: 612676, Gene2Phenotype
QDPR is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000151552
EnsemblGeneIds (GRCh37): ENSG00000151552
OMIM: 612676, Gene2Phenotype
QDPR is in 13 panels
1 review
Yetong Chen (University of Melbourne)
There is insufficient evidence supporting the causal role of the QDPR gene in brain calcification.
The suggested literature (PMID 2135679) is not accessible in PubMed. A similar paper, PMID 2785251, reports intracranial calcification in a patient with dihydropteridine reductase deficiency. DNA sequencing was not available when the case was reported.
Sources: Expert listCreated: 24 Apr 2023, 5:25 p.m. | Last Modified: 25 Apr 2023, 12:54 a.m.
Panel Version: 1.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydropteridine Reductase (DHPR) Deficiency, MIM* 612676
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dihydropteridine Reductase (DHPR) Deficiency, MIM* 612676
- OMIM
- 612676
- Clinvar variants
- Variants in QDPR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early-onset Parkinson disease
- Neurotransmitter Defects
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Additional findings_Paediatric
- Prepair 1000+
- Dystonia - complex
- Mendeliome
- Brain Calcification
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
2 May 2023, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: qdpr has been classified as Red List (Low Evidence).
2 May 2023, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: qdpr has been classified as Red List (Low Evidence).
24 Apr 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: QDPR was added gene: QDPR was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QDPR were set to 2135679 Phenotypes for gene: QDPR were set to Dihydropteridine Reductase (DHPR) Deficiency, MIM* 612676 Review for gene: QDPR was set to RED