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

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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 Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Weill-Marchesani

Publications

22539340

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LTBP2; Initial rating suggestion: amber
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Details

Sources

NHS GMS

Phenotypes

Weill-Marchesani

OMIM

602091

Clinvar variants

Variants in LTBP2

Penetrance

None

Publications

22539340

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 1

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Weill-Marchesani for gene: LTBP2 Publications for gene LTBP2 were changed from to 22539340

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: LTBP2 was added gene: LTBP2 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: LTBP2 was set to

Skeletal dysplasia Gene: LTBP2