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Inborn errors of metabolism

Gene: LCT

Green List (high evidence)

LCT (lactase)
EnsemblGeneIds (GRCh38): ENSG00000115850
EnsemblGeneIds (GRCh37): ENSG00000115850
OMIM: 603202, Gene2Phenotype
LCT is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

>3 unrelated cases: Congenital lactase deficiency is frequent in Finland due to a high carrier status of an LCT variant (PMID:16400612 report multiple Finnish cases of the recessive disorder). More recent papers describe LCT variants in patients with the disorder outside of Finland: PMID:19161632 (2009): Turkish, Italian and Finnish. Uchida (2012): Japanese. PMID:26215149 (2015): Turkish.
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lactase deficiency, congenital, 223000

Publications

Details

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

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LCT. Source London North GLH was added to LCT.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LCT was added gene: LCT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCT were set to 27604308 Phenotypes for gene: LCT were set to Lactose intolerance (Other carbohydrate disorders); Lactase deficiency, congenital, 223000