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  2. Congenital Diarrhoea
  3. SLC10A2
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Congenital Diarrhoea

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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Primary bile acid malabsorption is an intestinal disorder associated with chronic watery diarrhoea, excess fecal bile acids, and steatorrhea. Single family reported in 1997.
Created: 5 Jan 2021, 9:35 a.m. | Last Modified: 5 Jan 2021, 9:35 a.m.
Panel Version: 0.73

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid malabsorption, primary, MIM# 613291

Publications

Created: 5 Jan 2021, 9:35 a.m.
Last Modified: 5 Jan 2021, 9:35 a.m.
Panel version: 0.73

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid malabsorption, primary, MIM# 613291
OMIM
601295
Clinvar variants
Variants in SLC10A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Jan 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC10A2 were changed from to Bile acid malabsorption, primary, MIM# 613291

5 Jan 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC10A2 were set to

5 Jan 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC10A2 was added gene: SLC10A2 was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC10A2 was set to Unknown