Inherited white matter disorders

Gene: DPYD

Green List (high evidence)

DPYD (dihydropyrimidine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000188641
EnsemblGeneIds (GRCh37): ENSG00000188641
OMIM: 612779, Gene2Phenotype
DPYD is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

pharmacogenetic tag: Severe toxicity can occur with certain medications (eg, 5-fluorouracil), and precautions may be beneficial
Created: 16 Mar 2017, 2:40 p.m.
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.
Created: 16 Mar 2017, 2:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
5-fluorouracil toxicity 274270; Dihydropyrimidine dehydrogenase deficiency 274270

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • 5-fluorouracil toxicity 274270
  • Dihydropyrimidine dehydrogenase deficiency 274270
Tags
pharmacogenetics
OMIM
612779
Clinvar variants
Variants in DPYD
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DPYD was created by sleigh

16 Mar 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

DPYD was added to Inherited white matter disorderspanel. Sources: Expert Review