Vascular skin disorders
Gene: ADAMTS13Comment on list classification: Inclusion of ADAMTS13 was reassessed in light of the Red review by Zornitza Stark (Australian Genomics).
ADAMTS13 deficiency causes thrombotic thrombocytopenic purpura which is predominantly characterised by haematological abnormalities. These defects can results in secondary dermatological features such as purpura and petechiae, indicating that this panel may be applicable in some cases and represents a differential diagnosis.
Additionally, previous discussions with the clinical specialist team indicated that this gene should be on the panel and therefore maintaining the current Green rating.Created: 11 Mar 2024, 2:15 p.m. | Last Modified: 11 Mar 2024, 2:19 p.m.
Panel Version: 1.55
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
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
Gene: adamts13 has been classified as Green List (High Evidence).
Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Publications for gene: ADAMTS13 were set to
Gene: adamts13 has been classified as Green List (High Evidence).
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