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  3. LCAT
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Proteinuria

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

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association
Created: 27 Mar 2022, 11:13 p.m. | Last Modified: 27 Mar 2022, 11:13 p.m.
Panel Version: 0.12046

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 27 Mar 2022, 11:13 p.m.
Last Modified: 27 Mar 2022, 11:13 p.m.
Panel version: Imported from Mendeliome panel version 0.12046

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Disorder of lipoprotein metabolism presents with a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.
Sources: Expert list
Created: 23 Jan 2020, 12:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Norum disease, MIM# 245900

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Jan 2020, 12:36 a.m.

Panel version: 0.104

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

23 Jan 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).

23 Jan 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).

23 Jan 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 Proteinuria. 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 gene: LCAT was marked as current diagnostic