MYSM1

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green MYSM1 in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • Bone marrow failure
  • immunodeficiency
  • Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay.
  • mid-face hypoplasia
  • MYSM1 deficiency
  • neurodevelopmental delay
  • Combined immunodeficiencies with associated or syndromic features
Green MYSM1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • ESID Registry 20171117
Phenotypes
  • MYSM1 deficiency
  • Bone marrow failure
  • neurodevelopmental delay
  • mid-face hypoplasia
  • immunodeficiency
  • Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay.
  • Combined immunodeficiencies with associated or syndromic features
Green MYSM1 in Cytopenia - NOT Fanconi anaemia


Version 3.21
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Bone marrow failure syndrome 4, 618116
Red MYSM1 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • MYSM1-related congenital bone marrow failure, OMIM:618116
    Green MYSM1 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bone marrow failure syndrome 4, 618116