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  3. SI
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TEST 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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
OMIM
609845
Clinvar variants
Variants in SI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: SI was added gene: SI was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SI were set to 8648527; 14724820; 27604308; 16329100