1. Genes and Genomic Entities
  2. ADAMTS13

ADAMTS13

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

7 panels

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


Level 2: Renal
Version 3.8
Latest signed off version: v3.6 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
    Green ADAMTS13 in Inherited bleeding disorders

    Level 3: Haemostasis disorders
    Level 2: Haematological and immunological disorders
    Version 1.182

    		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 1.123

    		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


    Level 2: Dermatology
    Version 2.5
    Latest signed off version: v2.0 (30 Apr 2025)

    		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


    Level 2: Haematology
    Version 2.10
    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
    Green ADAMTS13 in Bleeding and platelet disorders


    Level 2: Haematology
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • 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
    Amber ADAMTS13 in Cytopenia - NOT Fanconi anaemia


    Level 2: Haematology
    Version 4.32
    Latest signed off version: v4.0 (30 Apr 2025)

    		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