Pharmacogenomics_Paediatric
Gene: DPYD
DPYD (dihydropyrimidine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000188641
EnsemblGeneIds (GRCh37): ENSG00000188641
OMIM: 612779, Gene2Phenotype
DPYD is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000188641
EnsemblGeneIds (GRCh37): ENSG00000188641
OMIM: 612779, Gene2Phenotype
DPYD is in 11 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Phenotypes
Fluoropyrimidine
Publications
David Metz (Royal Children's Hospital)
Fluoropyrimidine (5-FU) Dosing
Capecitabine
Tegafur
Sources:
31038729
28262261
https://www.pharmgkb.org/guidelineAnnotation/PA166202721Created: 14 Aug 2020, 4:20 a.m. | Last Modified: 21 Sep 2020, 12:05 a.m.
Panel Version: 0.50
Mode of inheritance
Other
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Fluoropyrimidine
- OMIM
- 612779
- Clinvar variants
- Variants in DPYD
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Nucleotide metabolism disorders
- Leukodystrophy - paediatric
- Additional findings_Paediatric
- Mendeliome
- Pharmacogenomics_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Callosome
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
History Filter Activity
14 Aug 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dpyd has been classified as Amber List (Moderate Evidence).
14 Aug 2020, Gel status: 2
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DPYD were changed from to Fluoropyrimidine
14 Aug 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dpyd has been classified as Amber List (Moderate Evidence).
14 Aug 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set mode of pathogenicity
David Metz (Royal Children's Hospital)gene: DPYD was added gene: DPYD was added to Pharmacogenomics_Paediatric. Sources: Other Mode of inheritance for gene: DPYD was set to Other Publications for gene: DPYD were set to 29152729 Mode of pathogenicity for gene: DPYD was set to Other