LCT

lactase
OMIM: 603202, Gene2Phenotype

5 panels

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


Level 2: Gastrohepatology
Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lactase deficiency, congenital, OMIM:223000
Red LCT in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.10
Latest signed off version: v7.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Congenital lactase deficiency
Green LCT in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.645

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lactose intolerance (Other carbohydrate disorders)
  • Lactase deficiency, congenital, 223000
Green LCT in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.107
Latest signed off version: v8.0 (30 Apr 2025)

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
    • Lactose intolerance (Other carbohydrate disorders)
    • Lactase deficiency, congenital, 223000
    Red LCT in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.20
    Latest signed off version: v7.0 (30 Apr 2025)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH