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  3. CCR2
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Phagocyte Defects

Gene: CCR2

Green List (high evidence)
CCR2 (C-C motif chemokine receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000121807
EnsemblGeneIds (GRCh37): ENSG00000121807
OMIM: 601267, Gene2Phenotype
CCR2 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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
Created: 9 Nov 2024, 11:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic lung disease MIM#219600

Publications

Created: 9 Nov 2024, 11:39 p.m.

Panel version: 1.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic lung disease MIM#219600
OMIM
601267
Clinvar variants
Variants in CCR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ccr2 has been classified as Green List (High Evidence).

9 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ccr2 has been classified as Green List (High Evidence).

9 Nov 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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