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  3. ADAMTS13
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Stroke

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 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Strokes reported in at least 7 cases with the condition.
Sources: Literature
Created: 30 Apr 2020, 9:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombotic thrombocytopenic purpura, hereditary MIM#274150

Publications

Created: 30 Apr 2020, 9:20 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thrombotic thrombocytopenic purpura, hereditary MIM#274150
Tags
treatable
OMIM
604134
Clinvar variants
Variants in ADAMTS13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ADAMTS13.

30 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ADAMTS13 was added gene: ADAMTS13 was added to Stroke. Sources: Literature Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS13 were set to 32103696; 31585956; 30930238; 28591212 Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, hereditary MIM#274150 Review for gene: ADAMTS13 was set to GREEN