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Molecular autopsy

Gene: DPYD

Green List (high evidence)

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Dihydropyrimidine dehydrogenase deficiency 274270; Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism) for gene: DPYD

20 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 Molecular autopsy. 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)