QDPR

quinoid dihydropteridine reductase
OMIM: 612676, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green QDPR in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.10 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM#261630 Dehydropteridin reductase deficiency, Infantile-onset dystonia Parkinsonism Epilepsy Autonomic dysfunction Hyperphenylalaninemia
Red QDPR in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.99 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Dihydropteridine Reductase (DHPR) Deficiency, MIM* 612676
Green QDPR in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630
Green QDPR in Neurotransmitter Defects Level 2: Neurology and neurodevelopmental disorders Version 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 Tags treatable
Green QDPR in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM#261630 Tags treatable
Green QDPR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 Tags treatable
Green QDPR in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.272 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 Dihydropteridine reductase deficiency Dystonia Tags treatable
Green QDPR in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
Green QDPR in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Dihydropteridine reductase deficiency
Green QDPR in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
Green QDPR in Aminoacidopathy Level 2: Metabolic disorders Version 1.133 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes dihydropteridine reductase deficiency MONDO:0009862
Green QDPR in BabyScreen+ newborn screening Level 2: Screening Version 1.116	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Dihydropteridine reductase deficiency, MIM#261630 Tags treatable metabolic
Green QDPR in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)