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Structural eye disease

Gene: LCAT

Red List (low evidence)

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

RH
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fish-eye disease; Norum disease; 136120; 245900

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). RH
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fish-eye disease; Norum disease; 136120; 245900

History Filter Activity

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: LCAT was added gene: LCAT was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LCAT were set to Norum disease, 245900; Fish-eye disease, 136120