Haem degradation and bilirubin metabolism defects
Gene: UGT1A1
UGT1A1 (UDP glucuronosyltransferase family 1 member A1)
EnsemblGeneIds (GRCh38): ENSG00000241635
EnsemblGeneIds (GRCh37): ENSG00000241635
OMIM: 191740, Gene2Phenotype
UGT1A1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000241635
EnsemblGeneIds (GRCh37): ENSG00000241635
OMIM: 191740, Gene2Phenotype
UGT1A1 is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Disorders of haem degradation and bilirubin metabolism
- Crigler-Najjar syndrome type 1 MONDO:0021020, Crigler-Najjar syndrome type 2 MONDO:0011725
- OMIM
- 191740
- Clinvar variants
- Variants in UGT1A1
- Penetrance
- None
- Publications
- 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
20 May 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: UGT1A1 was added gene: UGT1A1 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGT1A1 were set to 26595536 Phenotypes for gene: UGT1A1 were set to Disorders of haem degradation and bilirubin metabolism; Crigler-Najjar syndrome type 1 MONDO:0021020, Crigler-Najjar syndrome type 2 MONDO:0011725