Miscellaneous Metabolic Disorders

Gene: LCT

Green List (high evidence)

LCT (lactase)
EnsemblGeneIds (GRCh38): ENSG00000115850
EnsemblGeneIds (GRCh37): ENSG00000115850
OMIM: 603202, Gene2Phenotype
LCT is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Lactase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of carbohydrate metabolism.
Sources: NHS GMS
Created: 5 Feb 2021, 3:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lactase deficiency, congenital MIM#223000; Other carbohydrate disorders

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lactase deficiency, congenital MIM#223000
  • Other carbohydrate disorders
OMIM
603202
Clinvar variants
Variants in LCT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lct has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lct has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LCT was added gene: LCT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCT were set to 9758622; 27604308 Phenotypes for gene: LCT were set to Lactase deficiency, congenital MIM#223000; Other carbohydrate disorders Review for gene: LCT was set to GREEN gene: LCT was marked as current diagnostic