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Undiagnosed metabolic disorders

Gene: SLCO1B1

Red List (low evidence)

SLCO1B1 (solute carrier organic anion transporter family member 1B1)
EnsemblGeneIds (GRCh38): ENSG00000134538
EnsemblGeneIds (GRCh37): ENSG00000134538
OMIM: 604843, Gene2Phenotype
SLCO1B1 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Because phenotype only manifests when digenic with loss of SLCO1B3 also
Created: 27 Feb 2017, 2:51 p.m.
Phenotype only manifests by complete and simultaneous deficiencies of this and SLCO1B3 genes
Created: 27 Feb 2017, 2:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Hyperbilirubinemia, Rotor type, digenic 237450



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Hyperbilirubinemia, Rotor type, digenic 237450
Clinvar variants
Variants in SLCO1B1
Panels with this gene

History Filter Activity

27 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

27 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Feb 2017, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

SLCO1B1 was added to Undiagnosed metabolic disorderspanel. Sources: Literature,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

27 Feb 2017, Gel status: 0


Sarah Leigh (Genomics England Curator)

SLCO1B1 was created by sleigh