Dyslipidaemia
Gene: LCATEnsemblGeneIds (GRCh38): ENSG00000213398
EnsemblGeneIds (GRCh37): ENSG00000213398
OMIM: 606967, Gene2Phenotype
LCAT is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association (see OMIM entry). Biallelic variants cause HDL deficiency.
Sources: LiteratureCreated: 8 Feb 2021, 11:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fish-eye disease MIM#136120; Norum disease MIM#245900; Disorders of high density lipoprotein metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Fish-eye disease MIM#136120
- Norum disease MIM#245900
- Disorders of high density lipoprotein metabolism
- OMIM
- 606967
- Clinvar variants
- Variants in LCAT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: lcat has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: lcat has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: LCAT was added gene: LCAT was added to Dyslipidaemia. Sources: Literature Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCAT were set to 30720493; 6624548 Phenotypes for gene: LCAT were set to Fish-eye disease MIM#136120; Norum disease MIM#245900; Disorders of high density lipoprotein metabolism Review for gene: LCAT was set to GREEN gene: LCAT was marked as current diagnostic