Transplant Co-Morbidity Superpanel
Gene: UGT1A1EnsemblGeneIds (GRCh38): ENSG00000241635
EnsemblGeneIds (GRCh37): ENSG00000241635
OMIM: 191740, Gene2Phenotype
UGT1A1 is in 12 panels
1 review
Claire Fryer-Smith (University of Melbourne)
Alleles in UGT1A1 are involved in guidelines for atazanavir and irinotecan.
https://www.pharmgkb.org/gene/PA420/overview
Sources: Expert listCreated: 24 Aug 2023, 4:22 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperbilirubinemia, familial transient neonatal MIM# 237900; Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hyperbilirubinemia, familial transient neonatal MIM# 237900
- Crigler-Najjar syndrome, type I MIM#218800
- Crigler-Najjar syndrome, type II MIM#606785
- OMIM
- 191740
- Clinvar variants
- Variants in UGT1A1
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ugt1a1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ugt1a1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Claire Fryer-Smith (University of Melbourne)gene: UGT1A1 was added gene: UGT1A1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list Mode of inheritance for gene: UGT1A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: UGT1A1 were set to Hyperbilirubinemia, familial transient neonatal MIM# 237900; Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785 Review for gene: UGT1A1 was set to GREEN