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  2. Cholestasis
  3. SLC51B
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Cholestasis

Gene: SLC51B

Red List (low evidence)
SLC51B (solute carrier family 51 beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000186198
EnsemblGeneIds (GRCh37): ENSG00000186198
OMIM: 612085, Gene2Phenotype
SLC51B is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two siblings reported with homozygous LOF variant in this gene and congenital diarrhoea/cholestasis.
Sources: Literature
Created: 14 Aug 2021, 1:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid malabsorption, primary, 2, MIM# 619481; Congenital diarrhoea; Cholestasis

Publications

Created: 14 Aug 2021, 1:52 a.m.

Panel version: 0.202

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bile acid malabsorption, primary, 2, MIM# 619481
  • Congenital diarrhoea
  • Cholestasis
OMIM
612085
Clinvar variants
Variants in SLC51B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc51b has been classified as Red List (Low Evidence).

14 Aug 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC51B was added gene: SLC51B was added to Cholestasis. Sources: Literature Mode of inheritance for gene: SLC51B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC51B were set to 28898457 Phenotypes for gene: SLC51B were set to Bile acid malabsorption, primary, 2, MIM# 619481; Congenital diarrhoea; Cholestasis Review for gene: SLC51B was set to RED