ADAMTS13

ADAM metallopeptidase with thrombospondin type 1 motif 13
OMIM: 604134, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Amber ADAMTS13 in Atypical haemolytic uraemic syndrome

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
    Tags
    • for-review
    • to_be_confirmed_NHSE
    Green ADAMTS13 in Inherited bleeding disorders

    Level 3: Haemostasis disorders
    Level 2: Haematological and immunological disorders
    Version 1.177

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Research
    Phenotypes
    • Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
    Green ADAMTS13 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.118

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
    Green ADAMTS13 in Vascular skin disorders


    Version 1.63
    Latest signed off version: v1.3 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
    Green ADAMTS13 in Thrombophilia with a likely monogenic cause


    Version 2.5
    Latest signed off version: v2.2 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
    Amber ADAMTS13 in Bleeding and platelet disorders


    Version 3.9
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
    Tags
    • Q4_23_NHS_review
    • Q4_23_promote_green
    Amber ADAMTS13 in Cytopenia - NOT Fanconi anaemia


    Version 3.32
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert review Amber
    • NHS GMS
    • North West GLH
    • London South GLH
    • Yorkshire and North East GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
    Green ADAMTS13 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150