MECOM

MDS1 and EVI1 complex locus
OMIM: 165215, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

No list MECOM in Limb disorders


Version 2.42
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Other
    Phenotypes
    • Radioulnar synostosis
    • Brachymesophalangia

    Green MECOM in Inherited bleeding disorders

    Level 3: Haemostasis disorders
    Level 2: Haematological and immunological disorders
    Version 1.159

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • BRIDGE Study Tier 1 Gene
    Phenotypes
    • transcription factor and gives the same pathology (thrombocytopenia with bone defects) as HOXA11
    • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

    Green MECOM in Bleeding and platelet disorders


    Version 1.26
    Latest signed off version: v1.2 (3 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

    Green MECOM in Cytopenia - NOT Fanconi anaemia


    Version 1.37
    Latest signed off version: v1.29 (15 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert review Green
    • Wessex and West Midlands GLH
    • Expert Review Green
    • North West GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London South GLH
    Phenotypes
    • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738
    • 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

    Amber MECOM in Fetal anomalies


    Version 1.674
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

    Amber MECOM in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

    Green MECOM in Severe Paediatric Disorders


    Version 1.78

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738