Thoracic aortic aneurysm or 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

2 reviews

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Literature
Phenotypes
  • Marfan syndrome
OMIM
602091
Clinvar variants
Variants in LTBP2
Penetrance
Complete
Publications
  • 22539340
  • doi:10.​1007/​s12265-016-9673-5
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to LTBP2. Mode of inheritance for gene LTBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LTBP2 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Literature

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LTBP2 was created by ellenmcdonagh