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Gene: UGT1A1

Green List (high evidence)

HGNC UGT1A1, 12530. From OMIM; Crigler-Najjar syndrome type I is a potentially life threatening disorder characterized by markedly elevated serum concentrations of unconjugated bilirubin, which can lead to brain damage (kernicterus). Jaundice normally appears in the first days of life and persists thereafter. Type I lack the enzyme uridine diphosphoglucuronate glucuronosyltransferase 1A1 (UGT1A1), the absence of which leads to severe unconjugated hyperbilirubinemia that can cause irreversible neurologic injury and death (D'Antiga, et al. 2023, PMID:37585628). Prolonged, daily phototherapy partially controls the jaundice, but the only definitive cure is liver transplantation. Type II patients have a partial deficiency of this enzyme, are less severely jaundiced, have pigmented bile that contains bilirubin glucuronide, and generally survive into adulthood without neurologic or intellectual impairment, although bilirubin encephalopathy may develop in later life. Treatment available; recently gene therapy has been performed (see PMID:37585628).

Created: 3 Feb 2025, 3:41 a.m. | Last Modified: 3 Feb 2025, 3:41 a.m.

Panel Version: 1.1397

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 MIM#218800; Crigler-Najjar syndrome, type II MIM#606785

Publications

• 12983120
• 37585628
• 1734381
• 5411133
• 9413009