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  2. Likely inborn error of metabolism
  3. DPYD
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Likely inborn error of metabolism

Gene: DPYD

Green List (high evidence)
DPYD (dihydropyrimidine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000188641
EnsemblGeneIds (GRCh37): ENSG00000188641
OMIM: 612779, Gene2Phenotype
DPYD is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

pharmacogenetic tag: Severe toxicity can occur with certain medications (eg, 5-fluorouracil), and precautions may be beneficial
Created: 28 Feb 2017, 11:24 a.m.
Created: 28 Feb 2017, 11:24 a.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 1.2

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

More than 3 families/cases reported for Dihydropyrimidine dehydrogenase deficiency which can include convulsive disorders, motor or mental retardation, growth retardation, microcephaly, dysmorphology, autism, ocular abnormalities (PMID: 10071185), though there is variability in phenotype; could be some evidence for incomplete penetrance, as indicated in PMID: 9254861 and PMID:10071185. The mode of inheritance is biallelic for Dihydropyrimidine dehydrogenase deficiency with convulsive disorders. Heterozygous individuals can be affected by fluorouracil toxicity.
Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dihydropyrimidine dehydrogenase deficiency 274270

Publications

Created: 23 Feb 2017, 5:13 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dihydropyrimidine dehydrogenase deficiency 274270
  • Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
OMIM
612779
Clinvar variants
Variants in DPYD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DPYD. Source London North GLH was added to DPYD.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DPYD was added gene: DPYD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPYD were set to 27604308 Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency 274270; Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)