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Undiagnosed 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

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

Created: 23 Feb 2017, 5:16 p.m.

Panel version: 0.304

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.
Created: 9 Feb 2017, 3:35 p.m.

Panel version: 0.275

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disaccharide intolerance 1 (Other carbohydrate disorders)
  • CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900
Tags
treatable
OMIM
609845
Clinvar variants
Variants in SI
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Feb 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

27 Feb 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SI were set to 27604308; 27604308; 16329100; 14724820; 8648527

24 Feb 2017, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SI was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Green Model of inheritance for gene SI was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SI was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SI was created by sleigh