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Molecular autopsy

Gene: SI

Green List (high evidence)
SI (sucrase-isomaltase)
EnsemblGeneIds (GRCh38): ENSG00000090402
EnsemblGeneIds (GRCh37): ENSG00000090402
OMIM: 609845, Gene2Phenotype
SI is in 4 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900
  • Disaccharide intolerance 1 (Other carbohydrate disorders)
OMIM
609845
Clinvar variants
Variants in SI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900; Disaccharide intolerance 1 (Other carbohydrate disorders) for gene: SI Publications for gene SI were changed from 27604308; 14724820; 8648527; 16329100 to 27604308; 16329100; 14724820; 8648527

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SI was added gene: SI was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SI were set to 27604308; 14724820; 8648527; 16329100 Phenotypes for gene: SI were set to CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900; Disaccharide intolerance 1 (Other carbohydrate disorders)