UGT1A1 - Gene browser

UGT1A1

UDP glucuronosyltransferase family 1 member A1

HCNC Approved Symbol: UGT1A1 (HGNC:12530)
Genomic Coordinates: 2:233,760,270 - 233,773,300 (2q37.1)
Synonyms: UGT1A, UGT1, GNT1
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the UGT1A1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

011
Patient count

Hyperbilirubinemia: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Developmental delay: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Jaundice: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Prolonged neonatal jaundice: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Unconjugated hyperbilirubinemia: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)