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  2. Congenital Diarrhoea
  3. SI
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Congenital Diarrhoea

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, osmotic diarrhoea.
Created: 5 Jan 2021, 9:22 a.m. | Last Modified: 5 Jan 2021, 9:22 a.m.
Panel Version: 0.67

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sucrase-isomaltase deficiency, congenital, MIM# 222900

Created: 5 Jan 2021, 9:22 a.m.
Last Modified: 5 Jan 2021, 9:22 a.m.
Panel version: 0.67

Details

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

History Filter Activity

5 Jan 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).

5 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SI were set to

5 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SI were changed from to Sucrase-isomaltase deficiency, congenital, MIM# 222900

5 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SI was added gene: SI was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SI was set to Unknown