White matter disorders and cerebral calcification - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dihydropyrimidine dehydrogenase deficiency
- 5-fluorouracil toxicity 274270
- OMIM
- 612779
- Clinvar variants
- Variants in DPYD
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Intellectual disability
- Early onset or syndromic epilepsy
- Dystonia, chorea or related movement disorder, childhood onset
- Structural eye disease
- Undiagnosed metabolic disorders
- Inherited white matter disorders
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DPYD was added gene: DPYD was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity 274270