Ehlers Danlos syndrome with a likely monogenic cause
Gene: ADAMTS2Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type VIIC, 225410;Ehlers-Danlos Syndrome, Dermatosparaxis Type;Dermatosparaxis EDS;dEDS;EDSVIIC;EDS7CCreated: 18 Mar 2021, 1:15 p.m. | Last Modified: 18 Mar 2021, 1:15 p.m.
Panel Version: 2.5
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: greenCreated: 3 Apr 2019, 3:41 p.m.
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, 26765342Created: 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=ADAMTS2Created: 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 EDSCreated: 30 Mar 2017, 11:20 a.m.
Phenotypes for gene: ADAMTS2 were changed from Ehlers Danlos syndrome, type VIIC, 225410; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Dermatosparaxis EDS; dEDS; EDSVIIC; EDS7C to Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
Source NHS GMS was added to ADAMTS2. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for ADAMTS2 were set to 28306229; 28306225;1303238;1642226;1403389;15389701; 26765342
Publications for ADAMTS2 were set to 28306229;28306225
Phenotypes for ADAMTS2 were set to Ehlers Danlos syndrome, type VIIC, 225410; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Dermatosparaxis EDS; dEDS;EDSVIIC; EDS7C
Phenotypes for ADAMTS2 were set to Ehlers Danlos syndrome, type VIIC, 225410; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Dermatosparaxis EDS; dEDS
Phenotypes for ADAMTS2 were set to Ehlers Danlos syndrome, type VIIC, 225410; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Dermatosparaxis EDS; dEDS
Publications for ADAMTS2 were set to 28306229
Phenotypes for ADAMTS2 were set to Ehlers Danlos syndrome, type VIIC, 225410 ; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Dermatosparaxis EDS (dEDS)
ADAMTS2 was created by ellenmcdonagh
ADAMTS2 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert Review Green