Transplant Co-Morbidity Superpanel
Gene: DPYDEnsemblGeneIds (GRCh38): ENSG00000188641
EnsemblGeneIds (GRCh37): ENSG00000188641
OMIM: 612779, Gene2Phenotype
DPYD is in 11 panels
1 review
Claire Fryer-Smith (University of Melbourne)
Monoallelic loss of function variants in this gene are associated with an increased risk of toxicity in cancer patients receiving fluoropyrimidine chemotherapy. Biallelic variants result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria.
https://www.pharmgkb.org/gene/PA145/overview
Sources: Expert listCreated: 24 Aug 2023, 3:53 a.m. | Last Modified: 24 Aug 2023, 3:56 a.m.
Panel Version: 0.4
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dihydropyrimidine dehydrogenase deficiency MIM#274270; 5-fluorouracil toxicity MIM#274270; Disorders of pyrimidine metabolism
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dihydropyrimidine dehydrogenase deficiency MIM#274270
- 5-fluorouracil toxicity MIM#274270
- Disorders of pyrimidine metabolism
- OMIM
- 612779
- Clinvar variants
- Variants in DPYD
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dpyd has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dpyd has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Claire Fryer-Smith (University of Melbourne)gene: DPYD was added gene: DPYD was added to Transplant Co-Morbidity Superpanel. Sources: Expert list Mode of inheritance for gene: DPYD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency MIM#274270; 5-fluorouracil toxicity MIM#274270; Disorders of pyrimidine metabolism Review for gene: DPYD was set to GREEN