Corneal abnormalities
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
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group, and should be promoted to green.Created: 22 Feb 2017, 10:34 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 251750
- OMIM
- 602091
- Clinvar variants
- Variants in LTBP2
- Penetrance
- Complete
- Panels with this gene
-
- Corneal dystrophy
- Thoracic aortic aneurysm or dissection (GMS)
- Thoracic aortic aneurysm or dissection
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
- DDG2P
- Structural eye disease
- Corneal abnormalities
- Glaucoma (developmental)
- Fetal anomalies
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
History Filter Activity
9 Mar 2017, Gel status: 4
panel promoted to version 1
Chris Campbell (GEL)09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
22 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 Feb 2017, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LTBP2 were set to Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 251750
22 Feb 2017, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for LTBP2 was changed to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()LTBP2 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen