Activity
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5 actions
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| Phagocyte Defects v1.31 | CCR2 | Bryony Thompson Marked gene: CCR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.31 | CCR2 | Bryony Thompson Gene: ccr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.31 | CCR2 | Bryony Thompson Classified gene: CCR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.31 | CCR2 | Bryony Thompson Gene: ccr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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