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Inborn errors of metabolism

Gene: SI

Green List (high evidence)

SI (sucrase-isomaltase)
EnsemblGeneIds (GRCh38): ENSG00000090402
EnsemblGeneIds (GRCh37): ENSG00000090402
OMIM: 609845, Gene2Phenotype
SI is in 3 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Many families described carrying biallelic variants, with the relevant phenotype. The broad phenotypic spectrum can include severe diarrhea and failure to thrive in infancy, 'chronic nonspecific diarrhea' without growth failure in toddlers, and 'irritable bowel syndrome' in adolescents and adults.
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900

Publications

Sarah Leigh (Genomics England Curator)

Sources
Clinical Genomic Database
Phenotypes
CONDITION: Sucrase-isomaltase deficiency, congenital INTERVENTION/RATIONALE: Sucrose and other carbohydrate ingestion results in osmotic diarrhea, and dietary/medical therapy (eg, sucrose-reduced diet, treatment with sacrosidase) can be effective
Created: 9 Feb 2017, 3:35 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • 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

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SI. Source London North GLH was added to SI.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 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 Inborn errors of metabolism. 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)