Ehlers Danlos syndrome with a likely monogenic cause

Gene: ADAMTS2

Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type VIIC, 225410;Ehlers-Danlos Syndrome, Dermatosparaxis Type;Dermatosparaxis EDS;dEDS;EDSVIIC;EDS7C

Created: 18 Mar 2021, 1:15 p.m. | Last Modified: 18 Mar 2021, 1:15 p.m.

Panel Version: 2.5

Green List (high evidence)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ADAMTS2; Suggested initial gene rating: green

Created: 3 Apr 2019, 3:41 p.m.

Green List (high evidence)

Green List (high evidence)

Comment on publications: From PMID: 28306225: To date 15 patients with eEDS from 14 independent families have been reported with variants in ADAMTS2: for example PMID: 1303238,1642226,1403389,15389701, 26765342

Created: 13 Apr 2017, 3:25 p.m.

This gene is listed in the Ehlers Danlos Syndrome Variant Database https://eds.gene.le.ac.uk/home.php?select_db=ADAMTS2

Created: 13 Apr 2017, 3:19 p.m.

Comment on publications: Added publications for evidence of gene-phenotype relationship to reflect current classification of EDS and The Ehlers–Danlos Syndromes, rare types. Malfait et al., 2017 (PMID:28306229), Brady et al., 2017 (PMID:28306225).

Created: 13 Apr 2017, 3:17 p.m.

In relation to the EDS pathogenetic scheme, ADAMTS2 belongs to 'Disorders of structure and function of myomatrix, the interface between muscle and ECM'. The scheme regroups EDS subtypes for which the proteins, coded by the causative genes, function within the same pathway, and which are likely to have shared pathogenic mechanisms, based on current knowledge.

Created: 13 Apr 2017, 3:16 p.m.

This is a rare recessive form of EDS

Created: 30 Mar 2017, 11:20 a.m.