UGT1A1

UDP glucuronosyltransferase family 1 member A1
OMIM: 191740, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green UGT1A1 in Gene therapy clinical trials Level 3: Clinical trials Level 2: Actionable information Version 0.9	review	Not set	Sources Expert Review Green ClinicalTrials.gov Phenotypes Crigler-Najjar Syndrome
Green UGT1A1 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.26	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Emory Genetics Laboratory Phenotypes Neonatal and Adult Cholestasis Crigler-Najjar syndrome, type I 218800 Crigler-Najjar syndrome, type II 606785 [Gilbert syndrome] 143500 unconjugated jaundice
No list UGT1A1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Illumina TruGenome Clinical Sequencing Services Phenotypes Transient Familial Neonatal Hyperbilirubinemia Tags curated_removed
Green UGT1A1 in Cholestasis Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes [Gilbert syndrome] 143500 Crigler-Najjar syndrome, type I 218800 Neonatal and Adult Cholestasis Crigler-Najjar syndrome, type II 606785 unconjugated jaundice
Green UGT1A1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Tags treatable gene-therapy-trial
Green UGT1A1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	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
Red UGT1A1 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes CRIGLER-NAJJAR SYNDROME, TYPE I
Green UGT1A1 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRIGLER-NAJJAR SYNDROME, TYPE I 218800
Red UGT1A1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes NA
Red UGT1A1 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green UGT1A1 in Severe Paediatric Disorders Version 1.184	review	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