1. Genes and Genomic Entities
  2. SLCO1B3

SLCO1B3

solute carrier organic anion transporter family member 1B3
OMIM: 605495, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red SLCO1B3 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.645

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Hyperbilirubinemia, Rotor type, digenic 237450
Red SLCO1B3 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.113
Latest signed off version: v8.0 (30 Apr 2025)

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
    • Expert Review Red
    Phenotypes
    • Hyperbilirubinemia, Rotor type, digenic