Cataracts

Gene: LCT

Red List (low evidence)

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

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas, cataracts have been described
Created: 2 Jun 2016, 1:20 p.m.

Phenotypes
Congenital lactase deficiency

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

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