1. Panels
  2. Corneal Dystrophy
  3. LCAT
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Corneal Dystrophy

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Corneal opacities are part of the phenotype.
Sources: Expert list
Created: 27 Jul 2020, 8:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Norum disease, MIM# 245900

Created: 27 Jul 2020, 8:37 a.m.

Panel version: 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Norum disease, MIM# 245900
OMIM
606967
Clinvar variants
Variants in LCAT
Penetrance
None
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lcat has been classified as Green List (High Evidence).

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lcat has been classified as Green List (High Evidence).

27 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LCAT was added gene: LCAT was added to Corneal Dystrophy. Sources: Expert list Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LCAT were set to Norum disease, MIM# 245900 Review for gene: LCAT was set to GREEN