Bilateral congenital or childhood onset cataracts
Gene: LTBP2
LTBP2 (latent transforming growth factor beta binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 12 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Associated with Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, cataracts not a usual feature as far as I am awareCreated: 25 May 2016, 8:10 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted to red list due to expert review.Created: 31 May 2016, 10:05 a.m.
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for microspherophakia and primary congenital glaucoma Type 3D (don't seem to include cataract as a phenotype).Created: 29 Apr 2016, 12:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- OMIM
- 602091
- Clinvar variants
- Variants in LTBP2
- Penetrance
- Complete
- Panels with this gene
-
- Corneal dystrophy
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Corneal abnormalities
- Glaucoma (developmental)
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
History Filter Activity
2 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
2 Jun 2016, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for LTBP2 was changed to BIALLELIC, autosomal or pseudoautosomal
31 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
13 May 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()LTBP2 was added to Cataractspanel. Sources: UKGTN