PanelApp (test)
  1. Genes and Genomic Entities
  2. MYSM1

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 1.93

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 1.1902

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 1.66

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 0.25

    		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 1.114

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