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Prepair 1000+

Gene: LCAT

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Onset of corneal opacities generally in adolescence/adulthood.
Created: 13 Sep 2024, 6:16 a.m. | Last Modified: 13 Sep 2024, 6:16 a.m.
Panel Version: 1.296

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fish-eye disease, MIM# 136120

Lauren Rogers (Victorian Clinical Genetics Services)

I don't know

Well established gene-disease association.

A disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

Onset/diagnosis is generally in adulthood
Created: 13 Sep 2024, 2:07 a.m. | Last Modified: 13 Sep 2024, 2:07 a.m.
Panel Version: 1.287

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Norum disease (MIM#245900)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Norum disease, MIM#245900
  • Fish-eye disease, MIM# 136120
Tags
for review
OMIM
606967
Clinvar variants
Variants in LCAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2024, 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).

13 Sep 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LCAT were changed from Norum disease, 245900 (3) to Norum disease, MIM#245900; Fish-eye disease, MIM# 136120

13 Sep 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LCAT were set to

13 Sep 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: LCAT.

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LCAT were set to Norum disease, 245900 (3)