Genomics England
GMS Panels
Panels
Genes and Entities

SLC5A1

solute carrier family 5 member 1
OMIM: 182380
PanelMode of inheritanceDetails
2 panels
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glucose/galactose malabsorption, OMIM:606824
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glucose/galactose malabsorption (Disorders of glucose transport), Glucose/galactose malabsorption 606824 (Disorders of glucose transport)