Pharmacogenomics_Paediatric
Gene: UGT1A1EnsemblGeneIds (GRCh38): ENSG00000241635
EnsemblGeneIds (GRCh37): ENSG00000241635
OMIM: 191740, Gene2Phenotype
UGT1A1 is in 12 panels
1 review
David Metz (Royal Children's Hospital)
Sources: OtherCreated: 21 Sep 2020, 4:22 a.m.
Mode of inheritance
Other
Phenotypes
Irinotecan metabolism, increased toxicities with reduced metaboliser status; Atazanavir metabolism, increased risk jaundice and discontinuation with reduced metaboliser status
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- Other
- Sources
-
- Phenotypes
-
- Irinotecan metabolism, increased toxicities with reduced metaboliser status
- Atazanavir metabolism, increased risk jaundice and discontinuation with reduced metaboliser status
- OMIM
- 191740
- Clinvar variants
- Variants in UGT1A1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Paediatric
- Prepair 1000+
- Cholestasis
- Mendeliome
- Pharmacogenomics_Paediatric
- BabyScreen+ newborn screening
- Haem degradation and bilirubin metabolism defects
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
David Metz (Royal Children's Hospital)gene: UGT1A1 was added gene: UGT1A1 was added to Pharmacogenomics_Paediatric. Sources: Other Mode of inheritance for gene: UGT1A1 was set to Other Publications for gene: UGT1A1 were set to 21412232; 25817555; 26417955 Phenotypes for gene: UGT1A1 were set to Irinotecan metabolism, increased toxicities with reduced metaboliser status; Atazanavir metabolism, increased risk jaundice and discontinuation with reduced metaboliser status Mode of pathogenicity for gene: UGT1A1 was set to Other Review for gene: UGT1A1 was set to GREEN