Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: IL23R

Green List (high evidence)

IL23R (interleukin 23 receptor)
EnsemblGeneIds (GRCh38): ENSG00000162594
EnsemblGeneIds (GRCh37): ENSG00000162594
OMIM: 607562, Gene2Phenotype
IL23R is in 4 panels

2 reviews

Sophie Hambleton (Newcastle University)

Incomplete penetrance of MSMD
Created: 1 May 2020, 10:36 a.m. | Last Modified: 1 May 2020, 10:36 a.m.
Panel Version: 0.171

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: categorised under the Mendelian susceptibility to mycobacterial disease section. Inheritance: AR. Affects L + NK cells, which affects IFN-gamma secretion. Associated features are Susceptibility to mycobacteria and Salmonella.
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Defects in intrinsic and innate immunity; Mendelian susceptibility to mycobacterial disease; IL-23R deficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Green
Phenotypes
  • Defects in intrinsic and innate immunity
  • Mendelian susceptibility to mycobacterial disease
  • IL-23R deficiency
OMIM
607562
Clinvar variants
Variants in IL23R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: IL23R was added gene: IL23R was added to Viral susceptibility. Sources: Expert Review Green,IUIS Classification December 2019 Mode of inheritance for gene: IL23R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL23R were set to 32086639; 32048120 Phenotypes for gene: IL23R were set to Defects in intrinsic and innate immunity; Mendelian susceptibility to mycobacterial disease; IL-23R deficiency