Neonatal cholestasis
Gene: SLC10A1

SLC10A1 (solute carrier family 10 member 1)
EnsemblGeneIds (GRCh38): ENSG00000100652
EnsemblGeneIds (GRCh37): ENSG00000100652
OMIM: 182396, Gene2Phenotype
SLC10A1 is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. At least 3 variants reported in 3 unrelated cases. PMID 24867799 first reported case of sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency, but with no clinical signs of cholestatic jaundice, pruritis, or liver dysfunction. Cholestasis and liver disfunction were reported in the other publications listed (all from the same group). Doubt about variant c.800C>T (p. Ser267Phe) which has been reported in normal controls and has a high allele frequency in some populations. Apparently no functional studies have been performed.
Created: 15 Aug 2018, 3:37 p.m.

Comment on phenotypes: with prominent hypercholanemia and cholestasis (in some cases)
Created: 15 Aug 2018, 2:59 p.m.

Created: 15 Aug 2018, 2:59 p.m.

Panel version: 0.350

Jane Hartley (Birmingham Women and Children's Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
sodium taurocholate cotransporting polypeptide deficiency; cholestasis

Created: 16 Jun 2018, 11:10 p.m.

Panel version: 0.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Emory Genetics Laboratory

Phenotypes

Sodium taurocholate cotransporting polypeptide deficiency

OMIM

182396

Clinvar variants

Variants in SLC10A1

Penetrance

None

Publications

Panels with this gene

Neonatal cholestasis