MECOM

MDS1 and EVI1 complex locus
OMIM: 165215, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MECOM in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738

Green MECOM in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738
  • Bone marrow failure without radioulnar synostosis (RUS)

Green MECOM in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738

Green MECOM in Radial Ray Abnormalities


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738
    • Radioulnar synostosis without hematological aberration, no OMIM #

    Green MECOM in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Expert Review
    • Victorian Clinical Genetics Services
    Phenotypes
    • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738
    • Radioulnar synostosis without hematological aberration, no OMIM #

    Green MECOM in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MIM#616738

    Green MECOM in IBMDx study


    Version 0.25

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738
    • Bone marrow failure without radioulnar synostosis (RUS)

    Green MECOM in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738