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Inborn errors of metabolism

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 10 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:58 a.m.

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Conjugated hyperbilirubinaemia leading to encephalopathy. Reports in sufficient families for causation
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Sarah Leigh (Genomics England Curator)

Phenobarbital (and phototherapy treatment) resulted in a reduction of serum bilirubin concentrations in Crigler-Najjar syndrome type II and Gilbert syndrome
Created: 9 Feb 2017, 2:43 p.m.

Details

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

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to UGT1A1. Source London North GLH was added to UGT1A1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: UGT1A1 was added gene: UGT1A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGT1A1 were set to 27604308; 24816252 Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome, type I 218800; Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type II 606785