Neonatal cholestasis

Gene: SLC10A1

Red List (low evidence)

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Sodium taurocholate cotransporting polypeptide deficiency
OMIM
182396
Clinvar variants
Variants in SLC10A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

15 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: slc10a1 has been classified as Red List (Low Evidence).

15 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SLC10A1 was changed from to BIALLELIC, autosomal or pseudoautosomal

15 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC10A1 were set to 29658451; 24867799; 28835676; 27882152; 29290974

15 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC10A1 were set to Sodium taurocholate cotransporting polypeptide deficiency

15 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC10A1 were set to 29658451; 24867799; 28835676; 27882152

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC10A1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SLC10A1 was created by Ellen McDonagh