| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Phagocyte Defects v1.39 | MKL1 | Zornitza Stark edited their review of gene: MKL1: Added comment: Third individual reported with compound het LoF variants and some supportive functional data. Neutrophils from the affected individual showed impaired F-actin polymerization, decreased migration ability, reduced ROS production, increased apoptosis, diminished NETs formation, and decreased MPO levels. Transcriptome profiling revealed neutrophil-specific downregulation of cytoskeletal genes with concomitant upregulation of antimicrobial peptide/inflammatory pathways, while PBMCs presented upregulated adhesion/migration-related genes.; Changed rating: GREEN; Changed publications: 32128589, 26224645, 40808667 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.35 | MPO | Bryony Thompson Marked gene: MPO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.35 | MPO | Bryony Thompson Gene: mpo has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.35 | MPO | Bryony Thompson Classified gene: MPO as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.35 | MPO | Bryony Thompson Gene: mpo has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.34 | MPO |
Bryony Thompson gene: MPO was added gene: MPO was added to Phagocyte Defects. Sources: Other Mode of inheritance for gene: MPO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPO were set to 7904599; 39087142; 29262241 Phenotypes for gene: MPO were set to myeloperoxidase deficiency MONDO:0009694 Review for gene: MPO was set to AMBER Added comment: Most common inherited phagocyte defect leading to impaired microbial killing. The majority of cases are clinically asymptomatic except if diabetic. Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.30 | CCR2 |
Bryony Thompson gene: CCR2 was added gene: CCR2 was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: CCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCR2 were set to 38157855 Phenotypes for gene: CCR2 were set to Polycystic lung disease MIM#219600 Review for gene: CCR2 was set to GREEN Added comment: CCR2 deficiency was found to cause pulmonary alveolar proteinosis (PAP), polycystic lung disease, and recurrent infections caused by impaired CCL2-dependent monocyte migration to the lungs and infected tissues. 9 children from 5 independent kindreds with biallelic variants, homozygous in 6 cases & compound heterozygous in 3 were identified. Classified as a congenital defect of phagocyte number or function (subcategory defects of motility) by the IUIS IEI committee. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||