SLC5A1

solute carrier family 5 member 1
OMIM: 182380, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green SLC5A1 in Intestinal failure or congenital diarrhoea


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glucose/galactose malabsorption, OMIM:606824
Green SLC5A1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glucose/galactose malabsorption (Disorders of glucose transport)
  • Glucose/galactose malabsorption 606824 (Disorders of glucose transport)
Tags
  • treatable
Green SLC5A1 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Glucose/galactose malabsorption (Disorders of glucose transport)
    • Glucose/galactose malabsorption 606824 (Disorders of glucose transport)
    Red SLC5A1 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green SLC5A1 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glucose/galactose malabsorption, 606824