Genomics England
GMS Panels
Panels
Genes and Entities

SI

sucrase-isomaltase
OMIM: 609845
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
Sucrase-isomaltase deficiency, congenital, OMIM:222900
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
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900, Disaccharide intolerance 1 (Other carbohydrate disorders)