NPM1

nucleophosmin 1
OMIM: 164040, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green NPM1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • radial ray defects
    • short stature
    • nail dsytrophy
    • bone marrow failure

    Green NPM1 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • radial ray defects
    • short stature
    • nail dsytrophy
    • bone marrow failure

    Green NPM1 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
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • radial ray defects
    • short stature
    • nail dsytrophy
    • bone marrow failure

    Green NPM1 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Amber NPM1 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Dyskeratosis congenita, MONDO:0015780, NPM1-related