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Inborn errors of metabolism

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

Phenotypes
Hyperbilirubinemia, Rotor type, digenic 237450

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hyperbilirubinemia, Rotor type, digenic
OMIM
604843
Clinvar variants
Variants in SLCO1B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLCO1B1 was added gene: SLCO1B1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLCO1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLCO1B1 were set to 24816252; 22232210 Phenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic