ADAMTS2

ADAM metallopeptidase with thrombospondin type 1 motif 2
OMIM: 604539, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red ADAMTS2 in Pneumothorax - familial


Level 2: Respiratory
Version 3.6
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • NHS GMS
Red ADAMTS2 in Rare genetic inflammatory skin disorders


Level 2: Dermatology
Version 4.16
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
Red ADAMTS2 in Thoracic aortic aneurysm or dissection (GMS)


Level 2: Cardiology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
  • South West GLH
Red ADAMTS2 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.129

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
  • Expert list
Phenotypes
  • 225410 Ehlers-Danlos syndrome, type VIIC
Green ADAMTS2 in Ehlers Danlos syndrome with a likely monogenic cause


Level 2: Musculoskeletal
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410