Viral resistance
Gene: CCR5EnsemblGeneIds (GRCh38): ENSG00000160791
EnsemblGeneIds (GRCh37): ENSG00000160791
OMIM: 601373, Gene2Phenotype
CCR5 is in 2 panels
1 review
Ivone Leong (Genomics England Curator)
Comment on list classification: CCR5 is the primary HIV co-receptor (PMID: 29932942). PMID: 8751444, 8756719 and 8791590 found that individuals with homozygous 32 bp del in CCR5 (caused frameshift and premature termination) were protected from HIV-1 infection. This variant has AF of ~1% in Caucasian populations but absent in western and central Africa and Japan. Those with a heterozygous variant have a moderate but consistent decrease in the rate of disease progression. PMID: 19213682 describes a case ("Berline patient") where an HIV-1 infected patient received a hematopoietic stem cell transplantation where the donor was homozygous for CCR5 32del. The patient has remained HIV free for >10 years.
It has also been suggested that CCR5 32del confers resistance to hepatitis C virus (HVC) infections; however, more data is still needed for this (PMID: 29415549).
Therefore, there is sufficient evidence for this gene to be rated Green on this panel.Created: 28 Apr 2020, 2:58 p.m. | Last Modified: 28 Apr 2020, 2:58 p.m.
Panel Version: 0.22
Comment on mode of inheritance: In reference to HIV resistance, Biallelic mutations confer stronger resistance against infection than Monoallelic mutations.Created: 28 Apr 2020, 2:36 p.m. | Last Modified: 28 Apr 2020, 2:36 p.m.
Panel Version: 0.19
This gene has been added from https://www.covidhge.com/ and will require further curation, therefore it is currently rated as Amber.
Sources: Literature, Expert listCreated: 20 Apr 2020, 12:11 p.m.
Mode of inheritance
Unknown
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Literature
- Phenotypes
-
- {Hepatitis C virus, resistance to}, 609532
- {HIV infection, susceptibility/resistance to}
- OMIM
- 601373
- Clinvar variants
- Variants in CCR5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ccr5 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CCR5 were set to
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: CCR5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CCR5 were changed from to {Hepatitis C virus, resistance to}, 609532; {HIV infection, susceptibility/resistance to}
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ccr5 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: CCR5 was added gene: CCR5 was added to Viral resistance. Sources: Literature,Expert list Mode of inheritance for gene: CCR5 was set to Unknown Review for gene: CCR5 was set to AMBER