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Epileptic encephalopathy

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)

Associated with phenotype in OMIM, not in G2P. At least 5 variants reported. Pharmacogentic tag added with comment: Heterozygous individuals can be affected by fluorouracil toxicity.
Created: 16 Mar 2017, 2:08 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 Epileptic encephalopathypanel. Sources: Expert Review