Neonatal cholestasis

Gene: SLC10A2

Red List (low evidence)

SLC10A2 (solute carrier family 10 member 2)
EnsemblGeneIds (GRCh38): ENSG00000125255
EnsemblGeneIds (GRCh37): ENSG00000125255
OMIM: 601295, Gene2Phenotype
SLC10A2 is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Two variants identified as heterozygotes in a single case.
Created: 21 Aug 2018, 9:55 a.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ASBT organic solute transporter; cholestasis

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Bile acid malabsorption, primary 613291
OMIM
601295
Clinvar variants
Variants in SLC10A2
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.

21 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: slc10a2 has been classified as Red List (Low Evidence).

21 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SLC10A2 was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC10A2 were set to 9109432

21 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC10A2 were set to Bile acid malabsorption, primary 613291

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC10A2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SLC10A2 was created by Ellen McDonagh