Structural eye disease
Gene: LRAT

LRAT (lecithin retinol acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000121207
EnsemblGeneIds (GRCh37): ENSG00000121207
OMIM: 604863, Gene2Phenotype
LRAT is in 11 panels

2 reviews

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

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 14; 613341

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

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 14, 613341

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Leber congenital amaurosis 14, 613341
Eye Disorders

OMIM

604863

Clinvar variants

Variants in LRAT

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LRAT. Mode of inheritance for gene LRAT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leber congenital amaurosis 14, 613341 for gene: LRAT

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: LRAT was added gene: LRAT was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: LRAT was set to Phenotypes for gene: LRAT were set to Eye Disorders

Structural eye disease Gene: LRAT