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| Autoinflammatory disorders v3.3 | MKL1 | Ida Ertmanska changed review comment from: New HGNC approved gene symbol for MKL1 is MRTFA; to: New HGNC approved gene symbol for MKL1 is MRTFA; new-gene-name tag was added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.3 | MKL1 | Ida Ertmanska commented on gene: MKL1: New HGNC approved gene symbol for MKL1 is MRTFA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.3 | MKL1 | Ida Ertmanska Classified gene: MKL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.3 | MKL1 | Ida Ertmanska Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.3 | MKL1 | Ida Ertmanska Gene: mkl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.2 | MKL1 |
Ida Ertmanska changed review comment from: 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. 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; to: 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 |
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| Autoinflammatory disorders v3.2 | MKL1 |
Ida Ertmanska 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 Added comment: 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. 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 |
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