1. Panels
  2. Intestinal failure or congenital diarrhoea
  3. SLC10A2
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Intestinal failure or congenital diarrhoea

Gene: SLC10A2

Green List (high evidence)
SLC10A2 (solute carrier family 10 member 2)
EnsemblGeneIds (GRCh38): ENSG00000125255
EnsemblGeneIds (GRCh37): ENSG00000125255
OMIM: 601295, Gene2Phenotype
SLC10A2 is in 2 panels

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
2 cases reported in PMID: 34192422 and PMID: 9109432 plus mouse model reported in PMID: 12819193 shows homozygous Slc10a2-null mice showed significantly increased fecal bile acid excretion.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Created: 8 Mar 2022, 11:44 a.m.
Last Modified: 8 Mar 2022, 11:44 a.m.
Panel version: 1.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Bile acid malabsorption, primary, 1, OMIM:613291
OMIM
601295
Clinvar variants
Variants in SLC10A2
Penetrance
None
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: SLC10A2 was added gene: SLC10A2 was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: SLC10A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC10A2 were set to ?Bile acid malabsorption, primary, 1, OMIM:613291