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Mendeliome

Gene: SI

Green List (high evidence)

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

2 reviews

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Autosomal recessive and dominant
Increasing evidence that heterozygous carriers still have a form of deficiency and can be symptomatic with onset in adult life (PMID: 31493040, PMID: 31557950).

LOF proven for missense
Created: 15 Jun 2020, 1:09 a.m. | Last Modified: 15 Jun 2020, 1:09 a.m.
Panel Version: 0.3074

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Sucrase-isomaltase deficiency, congenital #222900

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sucrase-isomaltase deficiency, congenital #222900
OMIM
609845
Clinvar variants
Variants in SI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jun 2020, 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).

15 Jun 2020, 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 #222900

15 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SI were set to

15 Jun 2020, 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 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SI was set to Unknown