MYSM1

Myb like, SWIRM and MPN domains 1
OMIM: 612176, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MYSM1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bone marrow failure syndrome 4, MIM#618116
    Tags
    • treatable

    Green MYSM1 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bone marrow failure syndrome 4, MIM#618116
    Tags
    • treatable

    Green MYSM1 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.115

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bone marrow failure syndrome 4, MIM#618116
    Tags
    • treatable

    Green MYSM1 in IBMDx study


    Version 0.35

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bone marrow failure syndrome 4, MIM#618116

    Green MYSM1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Bone marrow failure syndrome 4, MIM# 618116
    Tags
    • treatable
    • haematological