Likely inborn error of metabolism
Gene: LCT

LCT (lactase)
EnsemblGeneIds (GRCh38): ENSG00000115850
EnsemblGeneIds (GRCh37): ENSG00000115850
OMIM: 603202, Gene2Phenotype
LCT is in 5 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

Created: 23 Feb 2017, 5:14 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

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

27604308

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