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| 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 |
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| 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 |
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