Structural eye disease
Gene: LTBP2EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 12 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB Glaucoma gene, but at least three individual cases have been associated with megalocorneaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glaucoma 3, primary congenital, D 613086; Primary Congenital Glaucoma
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Glaucoma gene, but at least three individual cases have been associated with megalocorneaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glaucoma 3, primary congenital, D 613086; Primary Congenital Glaucoma
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Glaucoma 3, primary congenital, D 613086
- Primary Congenital Glaucoma
- OMIM
- 602091
- Clinvar variants
- Variants in LTBP2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Corneal dystrophy
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Corneal abnormalities
- Glaucoma (developmental)
- Skeletal dysplasia
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to LTBP2. Added phenotypes Glaucoma 3, primary congenital, D 613086; Primary Congenital Glaucoma for gene: LTBP2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: LTBP2 was added gene: LTBP2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTBP2 were set to 19656777; 19361779; 21081970; 20179738 Phenotypes for gene: LTBP2 were set to Glaucoma 3, primary congenital, D 613086; Primary Congenital Glaucoma