Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Glaucoma (developmental)

Gene: LRAT

Red List (low evidence)

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

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

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

LRAT was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory