Congenital Diarrhoea
Gene: LCT
LCT (lactase)
EnsemblGeneIds (GRCh38): ENSG00000115850
EnsemblGeneIds (GRCh37): ENSG00000115850
OMIM: 603202, Gene2Phenotype
LCT is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000115850
EnsemblGeneIds (GRCh37): ENSG00000115850
OMIM: 603202, Gene2Phenotype
LCT is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association,Created: 4 Jan 2021, 11:22 p.m. | Last Modified: 4 Jan 2021, 11:22 p.m.
Panel Version: 0.28
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lactase deficiency, congenital, MIM# 223000
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Lactase deficiency, congenital, MIM# 223000
- OMIM
- 603202
- Clinvar variants
- Variants in LCT
- Penetrance
- None
- Panels with this gene
History Filter Activity
4 Jan 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lct has been classified as Green List (High Evidence).
4 Jan 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LCT were changed from to Lactase deficiency, congenital, MIM# 223000
4 Jan 2021, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: LCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LCT was added gene: LCT was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LCT was set to Unknown