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UGT1A1 gene mutation
Clinical significance:
- defects in UGT1A1 are associated with
a) Gilbert syndrome (autosomal dominant) transient familial neonatal hyperbilirubinemia (same mutations as Gilbert's syndrome)
b) Crigler-Najjar syndrome type 1 (autosomal recessive)
c) Crigler-Najjar syndrome type 2 (autosomal dominant)
Related
UDP-glucuronosyltransferase-1A (UDPGT-1A, bilirubin-specific isozyme 1, HUG-BR1, UGT1A1, GNT1, UGT1)
General
UGT1A1 genotyping
gene mutation testing; gene mutation analysis
References
Loinc