LCT

lactase
OMIM: 603202, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green LCT 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
  • Lactase deficiency, congenital, OMIM:223000
Red LCT in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.14
Latest signed off version: v4.0 (22 Mar 2023)

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 1.620

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 - targeted testing not possible


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

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


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

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


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lactase deficiency, congenital, 223000