Renal Tubulopathies and related disorders
Gene: LCAT

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

1 review

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 Metabolic renal disease panel version Imported from Mendeliome panel version 0.12046

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
KidGen_MetabolicRenal v38.1.0
Expert Review Green

Phenotypes

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

OMIM

606967

Clinvar variants

Variants in LCAT

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LCAT was added gene: LCAT was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCAT were set to 6624548; 30720493 Phenotypes for gene: LCAT were set to Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120

Renal Tubulopathies and related disorders Gene: LCAT