Undiagnosed metabolic disordersGene: SI
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
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900
Clinical Genomic Database
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.
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
Publications for SI were set to 27604308; 27604308; 16329100; 14724820; 8648527
SI was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Green Model of inheritance for gene SI was set to BIALLELIC, autosomal or pseudoautosomal
SI was added to Undiagnosed metabolic disorderspanel. Sources: Literature
SI was created by sleigh