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  3. ADAMTS2
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Rare genetic inflammatory skin disorders

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

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.
Created: 17 Apr 2024, 9:59 a.m. | Last Modified: 17 Apr 2024, 9:59 a.m.
Panel Version: 3.19
Created: 17 Apr 2024, 9:59 a.m.
Last Modified: 17 Apr 2024, 9:59 a.m.
Panel version: 3.19

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

EDS is not associated with inflammatory skin disorders.
Created: 29 Mar 2024, 7:56 a.m. | Last Modified: 29 Mar 2024, 7:56 a.m.
Panel Version: 3.5
Created: 29 Mar 2024, 7:56 a.m.
Last Modified: 29 Mar 2024, 7:56 a.m.
Panel version: 3.5

Catherine Snow (Genomics England)

I don't know

This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:ADAMTS2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14
Created: 9 Sep 2019, 3:38 p.m.
Last Modified: 9 Sep 2019, 3:38 p.m.
Panel version: 0.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
OMIM
604539
Clinvar variants
Variants in ADAMTS2
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: adamts2 has been classified as Red List (Low Evidence).

24 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: ADAMTS2 was added gene: ADAMTS2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal