Bilateral congenital or childhood onset cataracts
Gene: LCAT

LCAT (lecithin-cholesterol acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000213398
EnsemblGeneIds (GRCh37): ENSG00000213398
OMIM: 606967, Gene2Phenotype
LCAT is in 8 panels

2 reviews

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Comment on list classification: Upgraded based on curator review and expert advice.
Created: 19 Feb 2019, 10:51 a.m.

Created: 19 Feb 2019, 10:51 a.m.

Panel version: 1.26

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.
Created: 20 Mar 2017, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fish-eye disease 136120; Norum disease 245900

Created: 20 Mar 2017, 12:30 p.m.

Panel version: 1.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review

Phenotypes

Fish-eye disease 136120
Norum disease 245900

OMIM

606967

Clinvar variants

Variants in LCAT

Penetrance

Complete

Panels with this gene

History Filter Activity

19 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Gene: lcat has been classified as Green List (High Evidence).

20 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

LCAT was created by sleigh

20 Mar 2017, Gel status: 0

Added New Source