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Autoinflammatory disorders

Gene: MKL1

Red List (low evidence)
MKL1 (megakaryoblastic leukemia (translocation) 1)
EnsemblGeneIds (GRCh38): ENSG00000196588
EnsemblGeneIds (GRCh37): ENSG00000196588
OMIM: 606078, Gene2Phenotype
MKL1 is in 4 panels

1 review

Ida Ertmanska (Genomics England Curator)

Red List (low evidence)

New HGNC approved gene symbol for MKL1 is MRTFA; new-gene-name tag was added.
Created: 12 May 2026, 2:33 p.m. | Last Modified: 12 May 2026, 2:34 p.m.
Panel Version: 3.3
Comment on list classification: As only one case with biallelic MKL1 variants presented with broad autoinflammation symptoms, this gene can only be rated Red with current evidence.
Created: 12 May 2026, 2:32 p.m. | Last Modified: 12 May 2026, 2:32 p.m.
Panel Version: 3.3
PMID: 40808667 Li et al., 2025
Report of a 3yo girl from China, non-consanguineous parents. Patient presented with early-onset bacterial infections, erythematous rashes, and bloody stools, accompanied by neutropenia and thrombocytopenia. Inflammatory bowel disease was suspected. WES detected comp het variants p.Q377X & p.C684X in MKL1 (MRTFA). Multiple neutrophil defects demonstrated in patient cells, including increased apoptosis and decreased migration ability.

PMID: 32128589 Sprenkeler et al. 2020
2 sibs with severe early-onset immunodeficiency, lymphopenia and thrombocytopenia. WES revealed homozygous MKL1 variant NM_020831.4:c.1356dup (p.(Val453Argfs*16). 1st sib died from infection in the first weeks of life; younger sister had milder phenotype as she underwent hematopoietic stem cell transplantation at 9 weeks.

PMID: 27479822 Johnson et al., 2016
Patient F37.I reported to harbour variant c.1723G>A, p.Val575Met in MKL1 (classed as VUS). The patient has a mild reduction in platelet count (130×109/L). Not sure on zygosity of this patient.

PMID: 26224645 Record et al., 2015
Female patient with immunodeficiency with recurring severe bacterial infections and mild thrombocytopenia. Parents are second cousins. She was homozygous for p.K723X variant in MKL1. MKL1-deficient neutrophils displayed reduced phagocytosis and almost complete abrogation of migration in vitro

MRTFA is putatively associated with AR ?Immunodeficiency 66, OMIM:618847 in OMIM (accessed 12th May 2026).
Sources: Literature
Created: 12 May 2026, 2:29 p.m. | Last Modified: 12 May 2026, 2:32 p.m.
Panel Version: 3.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Immunodeficiency 66 , OMIM:618847; immunodeficiency 66, MONDO:0030013; neutropenia, MONDO:0001475

Publications

Created: 12 May 2026, 2:29 p.m.
Last Modified: 12 May 2026, 2:34 p.m.
Panel version: 3.3

Details

Mode of Inheritance
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
OMIM
606078
Clinvar variants
Variants in MKL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2026, Gel status: 1

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: mkl1 has been classified as Red List (Low Evidence).

12 May 2026, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: MKL1 was added gene: MKL1 was added to Autoinflammatory disorders. Sources: Literature new-gene-name tags were added to gene: MKL1. Mode of inheritance for gene: MKL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKL1 were set to 26224645; 27479822; 32128589; 40808667 Phenotypes for gene: MKL1 were set to ?Immunodeficiency 66 , OMIM:618847; immunodeficiency 66, MONDO:0030013; neutropenia, MONDO:0001475 Review for gene: MKL1 was set to RED