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Severe Paediatric 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 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: UGT1A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Crigler-Najjar syndrome, type I, 218800 (3) | Crigler-Najjar syndrome, type II, 606785 (3) | Hyperbilirubinemia, familial transient neonatal, 237900 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Crigler-Najjar syndrome, type I, 218800
  • Crigler-Najjar syndrome, type II, 606785
  • Hyperbilirubinemia, familial transient neonatal, 237900
OMIM
191740
Clinvar variants
Variants in UGT1A1
Penetrance
None
Publications
Panels with this gene

History