Cytopenias and congenital anaemias
Gene: ADAMTS13EnsemblGeneIds (GRCh38): ENSG00000160323
EnsemblGeneIds (GRCh37): ENSG00000160323
OMIM: 604134, Gene2Phenotype
ADAMTS13 is in 8 panels
1 review
Rebecca Foulger (Genomics England curator)
The classic pentad of familial thrombotic thrombocytopenic purpura (TTP) includes hemolytic anemia with fragmentation of erythrocytes and thrombocytopenia (amongst other symptoms). Thromobocytopaenia is currently out the scope for this panel unless criteria is widened to platelet disorders. Discussed with Helen Brittain who agrees that hemolytic anemia should be included since pancyto or bi-cytopaenia are included in the inclusion criteria, and this counts as bi- in view of red cells and platelets being involved.Created: 9 Mar 2017, 11:52 a.m.
Comment when marking as ready: Rated green after clinican discussion. Hemolytic anemia phenotype is relevant to the panel. Sufficient cases to support causation.Created: 9 Mar 2017, 11:37 a.m.
Comment on list classification: Updated rating from Red to Green: Although thrombocytopenia is out of scope for this panel, after feedback from Arianna, I included ADAMTS13 on this panel because of the hemolytic anemia phenotype seen with TTP disorder (bi-cytopenia =loss of red blood cells and platelets). >3 cases supporting association between ADAMTS13 and TTP (MIM:274150).Created: 8 Mar 2017, 10:07 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
- OMIM
- 604134
- Clinvar variants
- Variants in ADAMTS13
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ADAMTS13 were changed from Familial Thrombotic Thrombocytopenia Purpura; Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for ADAMTS13 were set to 11586351
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for ADAMTS13 were set to Familial Thrombotic Thrombocytopenia Purpura; Thrombotic thrombocytopenic purpura, familial, 274150
Added New Source
Louise Daugherty (Genomics England Curator)ADAMTS13 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Created
Louise Daugherty (Genomics England Curator)ADAMTS13 was created by LouiseD