Genes in panel
Regions in panel
Prev Next

Mendeliome

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)

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, 10:01 a.m. | Last Modified: 5 Jan 2021, 10:01 a.m.
Panel Version: 0.5953

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glucose/galactose malabsorption, MIM# 606824

Publications

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

History Filter Activity

5 Jan 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).

5 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC5A1 were changed from to Glucose/galactose malabsorption, MIM# 606824

5 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC5A1 were set to

5 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC5A1 was added gene: SLC5A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC5A1 was set to Unknown