Glaucoma (developmental)
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
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)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Night blindness, congenital stationary (complete), 1F, autosomal recessive; 615058
Ivone Leong (Genomics England Curator)
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 diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 615004
- Clinvar variants
- Variants in LRIT3
- Penetrance
- Complete
- Panels with this gene
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)LRIT3 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory