MKL1

megakaryoblastic leukemia (translocation) 1
OMIM: 606078, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green MKL1 in COVID-19 research Level 2: Viral research Version 1.147	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 9.9 Latest signed off version: v9.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber IUIS Classification December 2019 IUIS Classification February 2018 Phenotypes ?Immunodeficiency 66 , OMIM:618847 immunodeficiency 66, MONDO:0030013 neutropenia, MONDO:0001475 Tags new-gene-name Q2_26_promote_green
Amber MKL1 in Bleeding and platelet disorders Level 2: Haematology Version 4.14 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Tags new-gene-name Q2_26_promote_green
Red MKL1 in Autoinflammatory disorders Level 2: Immunology Version 3.7 Latest signed off version: v3.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Immunodeficiency 66 , OMIM:618847 immunodeficiency 66, MONDO:0030013 neutropenia, MONDO:0001475 Tags new-gene-name