Ehlers Danlos syndromes

Gene: ADAMTS2

Green List (high evidence)

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

6 reviews

Ivone Leong (Genomics England Curator)

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

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

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.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

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.

Details

Mode of Inheritance
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
OMIM
604539
Clinvar variants
Variants in ADAMTS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ADAMTS2. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

13 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ADAMTS2 were set to 28306229; 28306225;1303238;1642226;1403389;15389701; 26765342

13 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ADAMTS2 were set to 28306229;28306225

13 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ADAMTS2 were set to Ehlers Danlos syndrome, type VIIC, 225410; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Dermatosparaxis EDS; dEDS;EDSVIIC; EDS7C

10 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ADAMTS2 were set to Ehlers Danlos syndrome, type VIIC, 225410; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Dermatosparaxis EDS; dEDS

7 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

29 Mar 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ADAMTS2 were set to 28306229

29 Mar 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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)

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ADAMTS2 was created by ellenmcdonagh

24 Jan 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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