Leukodystrophy - paediatric
Gene: DPYD
DPYD (dihydropyrimidine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000188641
EnsemblGeneIds (GRCh37): ENSG00000188641
OMIM: 612779, Gene2Phenotype
DPYD is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000188641
EnsemblGeneIds (GRCh37): ENSG00000188641
OMIM: 612779, Gene2Phenotype
DPYD is in 11 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Dihydropyrimidine dehydrogenase deficiency 274270
- 5-fluorouracil toxicity 274270
- OMIM
- 612779
- Clinvar variants
- Variants in DPYD
- Penetrance
- None
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Nucleotide metabolism disorders
- Leukodystrophy - paediatric
- Additional findings_Paediatric
- Mendeliome
- Pharmacogenomics_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Callosome
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
History Filter Activity
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DPYD was added gene: DPYD was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency 274270; 5-fluorouracil toxicity 274270