1. Panels
  2. Retinal disorders
  3. LRAT
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinal disorders

Gene: LRAT

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

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:04 a.m.
Rated red by Andrew Webster (Moorfields Eye Hospital) on the Rod Dysfunction Syndrome gene panel "This gene is a rare cause of a progressive rod-cone dystrophy of early onset. It does not cause a 'rod dysfunction syndrome' as defined in the disease eligibility statement.
Oct. 19, 2015, 10:23 a.m." Review made: Panel Version: 0
Created: 26 Apr 2016, 12:09 p.m.
Created: 26 Apr 2016, 12:09 p.m.

Panel version: 0.161

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 14
  • Retinal dystrophy, early - onset severe
  • Retinitis pigmentosa, juvenile
  • Leber Congenital Amaurosis
  • Retinal dystrophy, early-onset severe, 613341
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Eye Disorders
OMIM
604863
Clinvar variants
Variants in LRAT
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LRAT. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

LRAT was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LRAT was created by ellenmcdonagh