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Primary immunodeficiency or monogenic inflammatory bowel disease v9.4 MKL1 Ida Ertmanska changed review comment from: 3rd case:
PMID: 40808667 Li et al., 2025
Report of a 3yo girl from China, non-consanguineous parents. Patient presented with early-onset bacterial infections, rashes, and bloody stools, accompanied by neutropenia and thrombocytopenia. WES detected comp het variants p.Q377X & p.C684X in MKL1 (MRTFA).

MRTFA is putatively associated with AR ?Immunodeficiency 66, OMIM:618847 in OMIM (accessed 12th May 2026).; to: 3rd case:
PMID: 40808667 Li et al., 2025
Report of a 3yo girl from China, non-consanguineous parents. Patient presented with early-onset bacterial infections, rashes, and bloody stools, accompanied by neutropenia and thrombocytopenia. 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.

MRTFA is putatively associated with AR ?Immunodeficiency 66, OMIM:618847 in OMIM (accessed 12th May 2026).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.4 MKL1 Ida Ertmanska changed review comment from: Comment on list classification: There are now 3 unrelated individuals with biallelic MKL1 variants and immunodeficiency due to neutrophil motility defects. Hence, this gene should be promoted to Green at the next update.; to: Comment on list classification: There are now 3 unrelated individuals with biallelic MKL1 variants and immunodeficiency due to neutrophil defects. Hence, this gene should be promoted to Green at the next update.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.4 MKL1 Ida Ertmanska changed review comment from: Comment on list classification: There are now 3 unrelated individuals with biallelic MKL1 variants and immunodeficiency due to neutropenia and neutrophil motility defects. Hence, this gene should be promoted to Green at the next update.; to: Comment on list classification: There are now 3 unrelated individuals with biallelic MKL1 variants and immunodeficiency due to neutrophil motility defects. Hence, this gene should be promoted to Green at the next update.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.4 MKL1 Ida Ertmanska Phenotypes for gene: MKL1 were changed from ?Immunodeficiency 66 , OMIM:618847; neutropenia, MONDO:0001475 to ?Immunodeficiency 66 , OMIM:618847; immunodeficiency 66, MONDO:0030013; neutropenia, MONDO:0001475
Primary immunodeficiency or monogenic inflammatory bowel disease v9.3 MKL1 Ida Ertmanska Phenotypes for gene: MKL1 were changed from Susceptibility to severe bacterial infection; Mild thrombocytopenia; Congenital defects of phagocyte number or function to ?Immunodeficiency 66 , OMIM:618847; neutropenia, MONDO:0001475
Primary immunodeficiency or monogenic inflammatory bowel disease v9.2 MKL1 Ida Ertmanska Classified gene: MKL1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v9.2 MKL1 Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated individuals with biallelic MKL1 variants and immunodeficiency due to neutropenia and neutrophil motility defects. Hence, this gene should be promoted to Green at the next update.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.2 MKL1 Ida Ertmanska Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.1 MKL1 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: MKL1.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.1 MKL1 Ida Ertmanska changed review comment from: 3rd case:
PMID: 40808667 Li et al., 2025
Patient presented with early-onset infections, rashes, and bloody stools, accompanied by neutropenia and thrombocytopenia. WES detected comp het variants p.Q377X & p.C684X in MKL1 (MRTFA).

MRTFA is putatively associated with AR ?Immunodeficiency 66, OMIM:618847 in OMIM (accessed 12th May 2026).; to: 3rd case:
PMID: 40808667 Li et al., 2025
Report of a 3yo girl from China, non-consanguineous parents. Patient presented with early-onset bacterial infections, rashes, and bloody stools, accompanied by neutropenia and thrombocytopenia. WES detected comp het variants p.Q377X & p.C684X in MKL1 (MRTFA).

MRTFA is putatively associated with AR ?Immunodeficiency 66, OMIM:618847 in OMIM (accessed 12th May 2026).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.1 MKL1 Ida Ertmanska reviewed gene: MKL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40808667; Phenotypes: ?Immunodeficiency 66 , OMIM:618847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.101 MKL1 Ivone Leong Classified gene: MKL1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.101 MKL1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and additional of second case.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.101 MKL1 Ivone Leong Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.100 MKL1 Ivone Leong Publications for gene: MKL1 were set to 32048120; 26224645; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 MKL1 Zornitza Stark reviewed gene: MKL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32128589, 26224645; Phenotypes: Neutropaenia with combined immune deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 MKL1 Louise Daugherty Source IUIS Classification December 2019 was added to MKL1.
Added phenotypes Mild thrombocytopenia; Congenital defects of phagocyte number or function for gene: MKL1
Publications for gene MKL1 were updated from 26224645 to 32048120; 26224645; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Louise Daugherty marked gene: MKL1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Louise Daugherty edited their review of gene: MKL1
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Sophie Hambleton reviewed gene: MKL1
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Louise Daugherty commented on gene: MKL1
Primary immunodeficiency or monogenic inflammatory bowel disease MKL1 Louise Daugherty Added gene to panel