DPYD

dihydropyrimidine dehydrogenase
OMIM: 612779, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green DPYD in Mendeliome Version 1.2302	2 reviews	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 1.108 Component of the following Super Panels: Progressive Neurological Conditions	3 reviews	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 0.540	0 reviews	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 1.63	1 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 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	0 reviews	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	2 reviews	Other	Sources Expert Review Amber Other Phenotypes Fluoropyrimidine
Red DPYD in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	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 1.48 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	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 1.116	0 reviews	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	1 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 0.5 Component of the following Super Panels: Metabolic Disorders Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Dihydropyrimidine dehydrogenase deficiency MONDO:0010130 Disorders of pyrimidine metabolism