Retinal disorders
Gene: LRIT3

LRIT3 (leucine rich repeat, Ig-like and transmembrane domains 3)
EnsemblGeneIds (GRCh38): ENSG00000183423
EnsemblGeneIds (GRCh37): ENSG00000183423
OMIM: 615004, Gene2Phenotype
LRIT3 is in 5 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)

Comment on list classification: Promoted to green due to expert review, and 2 families plus an animal model that recapitulates the human phenotype.
Created: 7 Jun 2016, 12:05 p.m.

Comment on list classification: This is a probable DD gene for autosomal recessive complete congenital stationary night blindness, and was rated green by an expert reviewer.
Created: 2 Jun 2016, 8:41 a.m.

This gene was removed from the Manchester Genetic Retinal Degeneration Conditions panel due to technical/alignment issues.
Created: 2 Jun 2016, 8:04 a.m.

Rated green by Andrew Webster (Moorfields Eye Hospital) on the Rod Dysfunction Syndrome panel "reported in two families by cited paper (four alleles, including three nulls). But no reports since, as far as I can tell. Mouse model is consistent with human phenotype."Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal, Phenotypes: complete congenital stationary night blindness, Publications: 23246293. Oct. 19, 2015, 11:48 a.m. Review made: Panel Version: 0

Created: 26 Apr 2016, 12:28 p.m.

Created: 26 Apr 2016, 12:27 p.m.

Panel version: 0.161

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Congenital Stationary Night Blindness
Congenital Stationary Night Blindness, Recessive
Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058

OMIM

615004

Clinvar variants

Variants in LRIT3

Penetrance

Complete

Publications

PMID: 23246293

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 LRIT3. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Jun 2016, Gel status: 4