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  3. IL4R
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Viral resistance

Gene: IL4R

Red List (low evidence)
IL4R (interleukin 4 receptor)
EnsemblGeneIds (GRCh38): ENSG00000077238
EnsemblGeneIds (GRCh37): ENSG00000077238
OMIM: 147781, Gene2Phenotype
IL4R is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on publications: PMID: 16189667 showed that individuals with homozygous V50 variant is associated with slow progression of HIV to AIDS.
Created: 4 May 2020, 1:04 p.m. | Last Modified: 4 May 2020, 1:04 p.m.
Panel Version: 0.30
Created: 4 May 2020, 1:04 p.m.
Last Modified: 4 May 2020, 1:04 p.m.
Panel version: 0.30

Sarah Leigh (Genomics England Curator)

Homozygous rs1805010 p.Ile75Val (referred to as I50V using obsolete numbering), is associated with slow progression to AIDS after HIV infection (PMID 16189667)
Created: 4 May 2020, 3:56 p.m. | Last Modified: 4 May 2020, 3:56 p.m.
Panel Version: 0.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO

Publications

Created: 30 Apr 2020, 4:51 p.m.
Last Modified: 30 Apr 2020, 4:51 p.m.
Panel version: 0.34

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • OMIM
Phenotypes
  • {AIDS, slow progression to} 609423
OMIM
147781
Clinvar variants
Variants in IL4R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 May 2020, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: IL4R was changed from to BIALLELIC, autosomal or pseudoautosomal

4 May 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: IL4R were set to 16189667

28 Apr 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: IL4R was added gene: IL4R was added to Viral resistance. Sources: OMIM Mode of inheritance for gene: IL4R was set to Publications for gene: IL4R were set to 16189667 Phenotypes for gene: IL4R were set to {AIDS, slow progression to} 609423