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  3. UGT1A1
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Cholestasis

Gene: UGT1A1

Green List (high evidence)
UGT1A1 (UDP glucuronosyltransferase family 1 member A1)
EnsemblGeneIds (GRCh38): ENSG00000241635
EnsemblGeneIds (GRCh37): ENSG00000241635
OMIM: 191740, Gene2Phenotype
UGT1A1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Unconjugated hyperbilirubinaemia is a key feature.
Created: 8 Dec 2024, 9:30 a.m. | Last Modified: 8 Dec 2024, 9:31 a.m.
Panel Version: 0.286

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785

Created: 8 Dec 2024, 9:30 a.m.
Last Modified: 8 Dec 2024, 9:31 a.m.
Panel version: 0.286

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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

History Filter Activity

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ugt1a1 has been classified as Green List (High Evidence).

8 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UGT1A1 were changed from to Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785

8 Dec 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UGT1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UGT1A1 was added gene: UGT1A1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UGT1A1 was set to Unknown