Lucey-Driscoll syndrome: genes and variants
Lucey-Driscoll syndrome is linked to 1 analyzed protein (UGT1A1). 4 DNA variants are known to cause it; 25 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Lucey-Driscoll syndrome
UGT1A1: UDP-glucuronosyltransferase 1A1
It conjugates bilirubin and many lipophilic compounds with glucuronic acid, enabling efficient elimination in bile or urine. Reduced activity causes Gilbert syndrome or Crigler-Najjar syndrome and can also increase toxicity from drugs such as irinotecan.
4 disease-causing and 25 uncertain variants in UGT1A1 are linked to Lucey-Driscoll syndrome.
Known disease-causing variants in Lucey-Driscoll syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| UGT1A1 Q331R | 331 | Disease-causing (★★) | |
| UGT1A1 R336Q | 336 | Disease-causing (★★) | |
| UGT1A1 L15R | 15 | Disease-causing (★) | |
| UGT1A1 G395A | 395 | Disease-causing (★) |
Same protein, different disease
- Crigler-Najjar syndrome is also caused by UGT1A1 variants; they fall mostly in different places as the Lucey-Driscoll syndrome variants (14 disease-causing).
- Gilbert syndrome is also caused by UGT1A1 variants; they fall mostly in different places as the Lucey-Driscoll syndrome variants (10 disease-causing).
Diseases related to Lucey-Driscoll syndrome
- Crigler-Najjar syndrome, also linked to UGT1A1
- Gilbert syndrome, also linked to UGT1A1
- BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1, also linked to UGT1A1
Frequently asked questions
Which genes are linked to Lucey-Driscoll syndrome?
In CATVariant, Lucey-Driscoll syndrome is linked to 1 analyzed protein: UGT1A1 (UDP-glucuronosyltransferase 1A1).
How many genetic variants are linked to Lucey-Driscoll syndrome?
29 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 25 are of uncertain significance or have conflicting reports.
Which uncertain variants in Lucey-Driscoll syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center