Intestinal failure or congenital diarrhoea

Gene: SI

Green List (high evidence)

SI (sucrase-isomaltase)
EnsemblGeneIds (GRCh38): ENSG00000090402
EnsemblGeneIds (GRCh37): ENSG00000090402
OMIM: 609845, Gene2Phenotype
SI is in 5 panels

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Sucrase-isomaltase deficiency, congenital, OMIM:222900
Clinvar variants
Variants in SI
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SI was added gene: SI was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, OMIM:222900