Structural eye disease
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

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
Night blindness, congenital stationary (complete), 1F, autosomal recessive; 615058

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
Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058

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

Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
Eye Disorders

OMIM

615004

Clinvar variants

Variants in LRIT3

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 LRIT3. Mode of inheritance for gene LRIT3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 for gene: LRIT3

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: LRIT3 was added gene: LRIT3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: LRIT3 was set to Phenotypes for gene: LRIT3 were set to Eye Disorders

Structural eye disease Gene: LRIT3