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  2. Miscellaneous Metabolic Disorders
  3. SI
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Miscellaneous Metabolic Disorders

Gene: SI

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, presents with osmotic diarrhoea.
Sources: Expert Review
Created: 6 Feb 2021, 3:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sucrase-isomaltase deficiency, congenital, MIM# 222900

Created: 6 Feb 2021, 3:46 a.m.

Panel version: 0.237

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Sucrase-isomaltase deficiency, congenital, MIM# 222900
OMIM
609845
Clinvar variants
Variants in SI
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: si has been classified as Green List (High Evidence).

6 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: si has been classified as Green List (High Evidence).

6 Feb 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SI was added gene: SI was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, MIM# 222900 Review for gene: SI was set to GREEN