SI

sucrase-isomaltase
OMIM: 609845, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green SI in Intestinal failure or congenital diarrhoea


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sucrase-isomaltase deficiency, congenital, OMIM:222900
Green SI in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.613

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Disaccharide intolerance 1 (Other carbohydrate disorders)
  • CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900
Tags
  • treatable
Green SI in Likely inborn error of metabolism - targeted testing not possible


Version 4.131
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review 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)
    Red SI in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green SI in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Sucrase-isomaltase deficiency, congenital, 222900