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  2. Miscellaneous Metabolic Disorders
  3. UGT1A1
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Miscellaneous Metabolic Disorders

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.
Sources: Expert Review
Created: 29 Jan 2021, 11:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I 218800; Crigler-Najjar syndrome, type II 606785

Created: 29 Jan 2021, 11:58 p.m.

Panel version: 0.69

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport)
  • Crigler-Najjar syndrome, type I 218800
  • Crigler-Najjar syndrome, type II 606785
OMIM
191740
Clinvar variants
Variants in UGT1A1
Penetrance
None
Panels with this gene

History Filter Activity

29 Jan 2021, 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).

29 Jan 2021, 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).

29 Jan 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UGT1A1 was added gene: UGT1A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UGT1A1 were set to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I 218800; Crigler-Najjar syndrome, type II 606785 Review for gene: UGT1A1 was set to GREEN