Atypical haemolytic uraemic syndrome
Gene: ADAMTS13EnsemblGeneIds (GRCh38): ENSG00000160323
EnsemblGeneIds (GRCh37): ENSG00000160323
OMIM: 604134, Gene2Phenotype
ADAMTS13 is in 8 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.
The following is the comment from GMS reviewers:
The testing for associated defects are performed biochemically. The trigger for sequencing of this specific gene is based on clinical MDT and not appropriate as standard practice.
Created: 4 Dec 2024, 10:34 p.m. | Last Modified: 6 Dec 2024, 10:51 a.m.
Panel Version: 3.6
Eleanor Williams (Genomics England Curator)
Associated with Thrombotic thrombocytopenic purpura, hereditary #274150 (AR) in OMIM.
After consultation with the Genomics England clinical team it was decided to add this gene as Amber and discuss with the GMS group at the next update. ADAMTS13 may be responsible for a mimic of aHUS, that might be difficult to distinguish clinically. Therefore it is possible that inclusion in a differential diagnosis capacity is relevant.Created: 21 Mar 2020, 6:12 p.m. | Last Modified: 21 Mar 2020, 6:12 p.m.
Panel Version: 2.5
Consulting with the Genomics England clinical team as to whether to add this gene to the panel.Created: 29 Jan 2020, 2:32 p.m. | Last Modified: 21 Mar 2020, 5:49 p.m.
Panel Version: 2.5
Zornitza Stark (Australian Genomics)
It is difficult to know whether to include this gene on an aHUS panel; there is considerable overlap in the clinical features between TTP and HUS, and we have included it in ours.
Sources: Expert listCreated: 9 Jan 2020, 4:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thrombotic thrombocytopenic purpura, familial, MIM# 274150
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
- OMIM
- 604134
- Clinvar variants
- Variants in ADAMTS13
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag to_be_confirmed_NHSE was removed from gene: ADAMTS13.
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag for-review was removed from gene: ADAMTS13.
Added Tag
Eleanor Williams (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: ADAMTS13.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, MIM# 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Added Tag
Eleanor Williams (Genomics England Curator)Tag for-review tag was added to gene: ADAMTS13.
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: ADAMTS13 were set to
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: adamts13 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: ADAMTS13 was added gene: ADAMTS13 was added to Atypical haemolytic uraemic syndrome. Sources: Expert list Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM# 274150 Review for gene: ADAMTS13 was set to AMBER