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  3. ADAMTS2
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Thoracic aortic aneurysm or 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

3 reviews

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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.90

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.
Created: 19 Feb 2016, 10:52 a.m.

Panel version: 0.22

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

Created: 11 Feb 2016, 12:52 p.m.

Panel version: 0.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • Expert list
Phenotypes
  • 225410 Ehlers-Danlos syndrome, type VIIC
OMIM
604539
Clinvar variants
Variants in ADAMTS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Oct 2019, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: ADAMTS2 were changed from to 225410 Ehlers-Danlos syndrome, type VIIC

2 Oct 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ADAMTS2 were set to

2 Oct 2019, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: ADAMTS2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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 ADAMTS2. Mode of inheritance for gene ADAMTS2 was changed from to BIALLELIC, autosomal or pseudoautosomal

3 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ADAMTS2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list