Congenital Diarrhoea
Gene: SLC5A1

SLC5A1 (solute carrier family 5 member 1)
EnsemblGeneIds (GRCh38): ENSG00000100170
EnsemblGeneIds (GRCh37): ENSG00000100170
OMIM: 182380, Gene2Phenotype
SLC5A1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Typically presents with neonatal onset of severe life-threatening watery diarrhoea and dehydration. Over 100 affected individuals reported.
Created: 5 Jan 2021, 9:59 a.m. | Last Modified: 5 Jan 2021, 9:59 a.m.

Panel Version: 0.87

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glucose/galactose malabsorption, MIM# 606824

Publications

Created: 5 Jan 2021, 9:59 a.m.
Last Modified: 5 Jan 2021, 9:59 a.m.
Panel version: 0.87

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Glucose/galactose malabsorption, MIM# 606824

OMIM

182380

Clinvar variants

Variants in SLC5A1

Penetrance

None

Publications

Panels with this gene