1. Genes and Genomic Entities
  2. MECOM

MECOM

MDS1 and EVI1 complex locus
OMIM: 165215, Gene2Phenotype

7 panels

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


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

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 1.182

    		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
    Green MECOM in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 8.78
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • 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
    Green MECOM in Bleeding and platelet disorders


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

    		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


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

    		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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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