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  2. Miscellaneous Metabolic Disorders
  3. SLC5A1
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Miscellaneous Metabolic Disorders

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported, presentation is with osmotic diarrhoea.
Sources: Expert list
Created: 6 Feb 2021, 3:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 6 Feb 2021, 3:16 a.m.

Panel version: 0.222

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Glucose/galactose malabsorption MIM# 606824
  • (Disorders of glucose transport)
OMIM
182380
Clinvar variants
Variants in SLC5A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc5a1 has been classified as Green List (High Evidence).

6 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc5a1 has been classified as Green List (High Evidence).

6 Feb 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC5A1 was added gene: SLC5A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A1 were set to 27604308; 2008213; 8195156; 20486940 Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption MIM# 606824; (Disorders of glucose transport) Review for gene: SLC5A1 was set to GREEN