This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
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
Tracy Lester (Genetics laboratory, Oxford UK)
Acromelic dysplasias gp of SD. Two unrelated cases with Weill-Marchesani reported with mutations. Also mutated in primary congenital glaucoma - 613086 and microspherophakia and/or megalocornea - 251750.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Weill-Marchesani
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Weill-Marchesani
- OMIM
- 602091
- Clinvar variants
- Variants in LTBP2
- Penetrance
- None
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Thoracic aortic aneurysm or dissection
- Intellectual disability
- Corneal abnormalities
- Glaucoma (developmental)
- Structural eye disease
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
- Thoracic aortic aneurysm or dissection (GMS)
- Corneal dystrophy
History Filter Activity
6 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: LTBP2 was added gene: LTBP2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP2 were set to Weill-Marchesani