Thoracic aortic aneurysm and dissection

Gene: LTBP2

Red List (low evidence)

LTBP2 (latent transforming growth factor beta binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 12 panels

4 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35

James Eden (Manchester)

Red List (low evidence)

Insufficient association with aortopathy.
Created: 2 Oct 2019, 4:13 p.m. | Last Modified: 2 Oct 2019, 4:13 p.m.
Panel Version: 0.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Weill-Marchesani syndrome 3, recessive 614819; Glaucoma 3, primary congenital, D 613086; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 251750

Publications

Rebecca Whittington (South West GLH)

Red List (low evidence)

614819 Weill-Marchesani syndrome 3 - short stature, myopia and aortic/pulmonary valve stenosis; Most HGMD variants associate with glaucoma
Created: 25 Mar 2019, 4:30 p.m.
Haji-Seyed-Javadi et al 2012 Hum Mutat 33:1182 PMID:22539340 identified homozygous c.3529G>A (p.Val1177Met) in a patient with Weill-Marchesani syndrome and c.1642C >T (p.Arg548*) in a patient with Marfan syndrome. They comment that p.Arg548* may be contributing to MFS-related phenotypes but is not responsible for the MFS in that patient (abstract only). Two other variants associated with MFS on HGMD but these are in unavailable conference abstract. Don't think sufficient evidence for this gene.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

On the Inherited Cardiac Condition Genes panel for Marfan syndrome reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3.
Created: 19 Feb 2016, 2:41 p.m.

History Filter Activity

18 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: LTBP2 was added gene: LTBP2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP2 were set to Marfan syndrome