MKL1

megakaryoblastic leukemia (translocation) 1
OMIM: 606078, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green MKL1 in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Susceptibility to severe bacterial infection
  • Mild thrombocytopenia
  • Congenital defects of phagocyte number or function
Amber MKL1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Susceptibility to severe bacterial infection
  • Mild thrombocytopenia
  • Congenital defects of phagocyte number or function
Tags
  • new-gene-name
Amber MKL1 in Bleeding and platelet disorders


Level 2: Haematology
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
  • new-gene-name