PanelApp (staging)
  1. Genes and Genomic Entities
  2. MECOM

MECOM

MDS1 and EVI1 complex locus
OMIM: 165215, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MECOM in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.52

1 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 1.112

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  3 reviews 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 1.2302

    		1 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 1.15

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 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 0.302

    		2 reviews 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 1.313

    		1 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 0.33

    		3 reviews 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

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