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Inborn errors of metabolism

Gene: SLC5A1

Green List (high evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment for "treatable" tag: individuals typically present in infancy with severe osmotic diarrhea and consequent dehydration, which can be fatal without dietary elimination of glucose and galactose (ie, individuals demonstrate dramatic improvement on fructose-based formula)
Created: 20 Mar 2017, 4:37 p.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

3 variants reported in 3 families
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glucose/galactose malabsorption 606824 (Disorders of glucose transport)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Glucose/galactose malabsorption (Disorders of glucose transport)
  • Glucose/galactose malabsorption 606824 (Disorders of glucose transport)
OMIM
182380
Clinvar variants
Variants in SLC5A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC5A1. Source London North GLH was added to SLC5A1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC5A1 was added gene: SLC5A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A1 were set to 27604308 Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption (Disorders of glucose transport); Glucose/galactose malabsorption 606824 (Disorders of glucose transport)