This Panel is marked as Retired
Epileptic encephalopathy
Gene: DPYD
DPYD (dihydropyrimidine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000188641
EnsemblGeneIds (GRCh37): ENSG00000188641
OMIM: 612779, Gene2Phenotype
DPYD is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000188641
EnsemblGeneIds (GRCh37): ENSG00000188641
OMIM: 612779, Gene2Phenotype
DPYD is in 8 panels
1 review
Sarah Leigh (Genomics England Curator)
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
- OMIM
- 612779
- Clinvar variants
- Variants in DPYD
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Intellectual disability
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Structural eye disease
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
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