Glaucoma (developmental)
Gene: LTBP2EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 12 panels
4 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
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Feedback from Arianna Tucci: yes green sounds sensible.Created: 26 Apr 2017, 9:02 a.m.
Comment on list classification: Seems to be multiple reports (>3 families) for primary congenital glaucoma. Confirmed DD gene for PRIMARY CONGENITAL GLAUCOMA TYPE 3D.Created: 12 Apr 2017, 3:24 p.m.
Chris Campbell (NHS)
Secondary to megalocorneaCreated: 17 Mar 2017, 3:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- 2579
- 2360
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
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Primary Congenital Glaucoma
- Glaucoma 3, primary congenital, D 613086
- OMIM
- 602091
- Clinvar variants
- Variants in LTBP2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Corneal dystrophy
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Fetal anomalies
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Corneal abnormalities
- Glaucoma (developmental)
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
History Filter Activity
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LTBP2 were set to Primary Congenital Glaucoma; Glaucoma 3, primary congenital, D 613086
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LTBP2 were set to 19361779;21081970;20179738;19656777
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LTBP2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LTBP2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)LTBP2 was added to Glaucoma (developmental)panel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)LTBP2 was added to Glaucoma (developmental)panel. Sources: Illumina TruGenome Clinical Sequencing Services