DPYD

dihydropyrimidine dehydrogenase
OMIM: 612779, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green DPYD in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes 5-fluorouracil toxicity 274270 Dihydropyrimidine dehydrogenase deficiency 274270
Green DPYD in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Dihydropyrimidine dehydrogenase deficiency, MIM# 274270 Tags SV/CNV
Green DPYD in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber DPYD in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Dihydropyrimidine dehydrogenase deficiency (MIM#274270)
Green DPYD in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Dihydropyrimidine dehydrogenase deficiency 274270 5-fluorouracil toxicity 274270
Amber DPYD in Pharmacogenomics_Paediatric Level 2: Screening Version 0.50	review	Other	Sources Expert Review Amber Other Phenotypes Fluoropyrimidine
Red DPYD in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Dihydropyrimidine dehydrogenase deficiency
Green DPYD in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Dihydropyrimidine dehydrogenase deficiency MIM#274270 5-fluorouracil toxicity MIM#274270 Disorders of pyrimidine metabolism Tags pharmacogenomic
Red DPYD in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dihydropyrimidine dehydrogenase deficiency
Green DPYD in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Dihydropyrimidine dehydrogenase deficiency MIM#274270 5-fluorouracil toxicity MIM#274270 Disorders of pyrimidine metabolism
Green DPYD in Nucleotide metabolism disorders Level 2: Metabolic disorders Version 0.1 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dihydropyrimidine dehydrogenase deficiency MONDO:0010130 Disorders of pyrimidine metabolism