1. Panels
  2. BabyScreen+ newborn screening
  3. UGT1A1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

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

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Definitive gene disease association
Severe bilirubin encephalopathy in neonatal period
Treatment phototherapy and exchange transfusion
Gene therapy in mouse models

Allelic diseases depending on level of enzyme activity
Gilbert syndrome (AR) mild hyperbilirubinaemia. Can contribute to more severe hyperbilirubinaemia in setting of haemolytic disease or G6PD
Created: 3 Nov 2022, 12:57 a.m. | Last Modified: 3 Nov 2022, 12:57 a.m.
Panel Version: 0.793

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Crigler-Najjar syndrome

Publications

Created: 3 Nov 2022, 12:57 a.m.
Last Modified: 3 Nov 2022, 12:57 a.m.
Panel version: 0.793

History Filter Activity

23 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag liver tag was added to gene: UGT1A1.

3 Nov 2022, 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).

3 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Nov 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UGT1A1 were set to

3 Nov 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: UGT1A1.

18 Sep 2022, Gel status: 3

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 gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome