Cataract
Gene: LCAT
LCAT (lecithin-cholesterol acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000213398
EnsemblGeneIds (GRCh37): ENSG00000213398
OMIM: 606967, Gene2Phenotype
LCAT is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000213398
EnsemblGeneIds (GRCh37): ENSG00000213398
OMIM: 606967, Gene2Phenotype
LCAT is in 9 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Some phenotypic overlap.Created: 8 Jul 2020, 7:36 a.m. | Last Modified: 8 Jul 2020, 7:36 a.m.
Panel Version: 0.208
Dean Phelan (Victorian Clinical Genetics Services)
OMIM:
Norum disease (AR) - Corneal lipid deposits, Corneal opacities
Fish-eye disease (AR) - Corneal opacities
Discussion with ZS - Corneal opacities not the same as cataracts and often misdiagnosed. Therefore leave as Red at this stage.
Sources: LiteratureCreated: 8 Jul 2020, 7:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- OMIM
- 606967
- Clinvar variants
- Variants in LCAT
- Penetrance
- None
- Panels with this gene
History Filter Activity
8 Jul 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lcat has been classified as Amber List (Moderate Evidence).
8 Jul 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lcat has been classified as Red List (Low Evidence).
8 Jul 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lcat has been classified as Red List (Low Evidence).
8 Jul 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance
Dean Phelan (Victorian Clinical Genetics Services)gene: LCAT was added gene: LCAT was added to Cataract. Sources: Literature Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: LCAT was set to RED