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


Version 1.48
Latest signed off version: v1.2 (4 Mar 2020)

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 1.542

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 Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 or chorea or related movement disorder


    Version 1.246
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SLC5A1 in Severe Paediatric Disorders


    Version 1.127

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