Corneal dystrophies

Gene: LCAT

Green List (high evidence)

LCAT (lecithin-cholesterol acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000213398
EnsemblGeneIds (GRCh37): ENSG00000213398
OMIM: 606967, Gene2Phenotype
LCAT is in 9 panels

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Fish-eye disease 136120
  • Norum disease 245900
OMIM
606967
Clinvar variants
Variants in LCAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: LCAT was added gene: LCAT was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCAT were set to 1859405; 2370048; 1681161 Phenotypes for gene: LCAT were set to Fish-eye disease 136120; Norum disease 245900