Bilateral congenital or childhood onset cataracts
Gene: LCT
LCT (lactase)
EnsemblGeneIds (GRCh38): ENSG00000115850
EnsemblGeneIds (GRCh37): ENSG00000115850
OMIM: 603202, Gene2Phenotype
LCT is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000115850
EnsemblGeneIds (GRCh37): ENSG00000115850
OMIM: 603202, Gene2Phenotype
LCT is in 5 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas, cataracts have been describedCreated: 2 Jun 2016, 1:20 p.m.
Phenotypes
Congenital lactase deficiency
Ellen McDonagh (Genomics England Curator)
Not on the Manchester congenital cataracts gene panel. Is associated with Lactase deficiency, congenital in OMIM. Not associated with a disease in G2P.Created: 29 Apr 2016, 12:15 p.m.
Details
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Congenital lactase deficiency
- OMIM
- 603202
- Clinvar variants
- Variants in LCT
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
2 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
2 Jun 2016, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LCT were set to Congenital lactase deficiency
28 Apr 2015, Gel status: 1
Added New Source
GEL ()LCT was added to Cataractspanel. Sources: UKGTN