1. Genes and Genomic Entities
  2. MECOM

MECOM

MDS1 and EVI1 complex locus
OMIM: 165215, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green MECOM in Limb disorders


Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
    Green MECOM in Inherited bleeding disorders

    Level 3: Haemostasis disorders
    Level 2: Haematological and immunological disorders
    Version 1.178

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • BRIDGE Study Tier 1 Gene
    Phenotypes
    • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
    Amber MECOM in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 4.202
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
    • Hypocellular bone marrow
    • congenital thrombocytopenia
    • B-cell lymphopenia
    • hypogammaglobulinemia
    • radioulnar synostosis
    • digit abnormalities
    • clubfoot
    • cardiac defects
    • facial dysmorphism
    Tags
    • Q4_23_promote_green
    Green MECOM in Bleeding and platelet disorders


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    		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
    • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
    Green MECOM in Cytopenia - NOT Fanconi anaemia


    Version 3.33
    Latest signed off version: v3.0 (22 Mar 2023)

    		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, OMIM:616738
    Green MECOM in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
    Green MECOM in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
    Green MECOM in Severe Paediatric Disorders


    Version 1.184

    		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