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  3. QDPR
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Neurotransmitter Defects

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630

Publications

Created: 23 Aug 2020, 11:34 a.m.
Last Modified: 23 Aug 2020, 11:34 a.m.
Panel version: 0.80

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630
Tags
treatable
OMIM
612676
Clinvar variants
Variants in QDPR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: QDPR.

23 Aug 2020, 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).

23 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630

23 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: QDPR were set to

23 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: QDPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: QDPR was added gene: QDPR was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: QDPR was set to Unknown