Vascular skin disorders

Gene: ADAMTS13

Green List (high evidence)

ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13)
EnsemblGeneIds (GRCh38): ENSG00000160323
EnsemblGeneIds (GRCh37): ENSG00000160323
OMIM: 604134, Gene2Phenotype
ADAMTS13 is in 8 panels

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

I don't think this fits well with the scope of this panel. The disorder is characterised by prominent haematological abnormalities (haemolysis and thrombocytopaenia) and is episodic.
Created: 2 Jul 2020, 12:08 a.m. | Last Modified: 2 Jul 2020, 12:08 a.m.
Panel Version: 1.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombotic thrombocytopenic purpura, hereditary 274150

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Publications

Catherine Snow (Genomics England)

I don't know

Comment on list classification: Comment on list classification: Discussion with clinical team phenotype relevant for this panel, ADAMTS13 can be classified as Green.
Created: 2 Dec 2019, 11:58 a.m. | Last Modified: 2 Dec 2019, 11:58 a.m.
Panel Version: 0.18
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:ADAMTS13; 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: 0.13

History Filter Activity

2 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: adamts13 has been classified as Green List (High Evidence).

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: ADAMTS13 was added gene: ADAMTS13 was added to Vascular skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal