Thoracic aortic aneurysm and dissection

Gene: ADAMTS2

Red List (low evidence)

ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2)
EnsemblGeneIds (GRCh38): ENSG00000087116
EnsemblGeneIds (GRCh37): ENSG00000087116
OMIM: 604539, Gene2Phenotype
ADAMTS2 is in 5 panels

5 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)

Not significantly associated with aortopathy.
Created: 2 Oct 2019, 3:28 p.m. | Last Modified: 2 Oct 2019, 3:28 p.m.
Panel Version: 0.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, dermatosparaxis typen 225410

Publications

Rebecca Whittington (South West GLH)

Red List (low evidence)

225410 dermatospraxis type Ehlers-Danlos syndrome. OMIM phenotype is skin fragility and bruising without any cardiovascular phenotype. No aortopathy associations on OMIM
Created: 25 Mar 2019, 4:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Not on the Inherited Cardiac Condition Genes panel for Familial aortic anuerysm 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.
Created: 19 Feb 2016, 10:52 a.m.

Matina Prapa (Genomics England Curator)

Red List (low evidence)

No known link to thoracic aortic aneurysm formation.
Created: 11 Feb 2016, 12:52 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
#225410- Ehlers-Danlos syndrome, type VIIC

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
  • South West GLH
OMIM
604539
Clinvar variants
Variants in ADAMTS2
Penetrance
None
Panels with this gene

History Filter Activity

18 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: ADAMTS2 was added gene: ADAMTS2 was added to GMS FTAAD placeholder panel. Sources: South West GLH,Expert Review Red Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal