Miscellaneous Metabolic Disorders
Gene: LCTEnsemblGeneIds (GRCh38): ENSG00000115850
EnsemblGeneIds (GRCh37): ENSG00000115850
OMIM: 603202, Gene2Phenotype
LCT is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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 GMSCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: lct has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: lct has been classified as Green List (High Evidence).
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