1. Panels
  2. Newborns main panel
  3. LCT
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: LCT

Green List (high evidence)
LCT (lactase)
EnsemblGeneIds (GRCh38): ENSG00000115850
EnsemblGeneIds (GRCh37): ENSG00000115850
OMIM: 603202, Gene2Phenotype
LCT is in 5 panels

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 16400612 (32 cases) PMID: 19161632 (4 cases), PMID: 22688420 (1), PMID: 25881162 (1)
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lactase deficiency, congenital
OMIM
603202
Clinvar variants
Variants in LCT
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: LCT was added gene: LCT was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LCT were set to Lactase deficiency, congenital