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  2. Defects of intrinsic and innate immunity
  3. IL23R
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Defects of intrinsic and innate immunity

Gene: IL23R

Green List (high evidence)
IL23R (interleukin 23 receptor)
EnsemblGeneIds (GRCh38): ENSG00000162594
EnsemblGeneIds (GRCh37): ENSG00000162594
OMIM: 607562, Gene2Phenotype
IL23R is in 2 panels

2 reviews

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

48yo male with disseminated NTM homozygous (p.R381X) with supportive functional data.
Created: 21 Jul 2022, 1:45 a.m. | Last Modified: 21 Jul 2022, 1:45 a.m.
Panel Version: 0.114

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to mycobacterial disease

Publications

Created: 21 Jul 2022, 1:45 a.m.
Last Modified: 21 Jul 2022, 1:45 a.m.
Panel version: 0.114

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Sources: Expert list
Created: 5 Apr 2020, 7:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to mycobacteria and Salmonella

Publications

Created: 5 Apr 2020, 7:07 a.m.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency disease, MONDO:0021094
  • Susceptibility to mycobacteria and Salmonella
OMIM
607562
Clinvar variants
Variants in IL23R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IL23R were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency disease, MONDO:0021094; Susceptibility to mycobacteria and Salmonella

21 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IL23R were set to 30578351

21 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il23r has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il23r has been classified as Red List (Low Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IL23R was added gene: IL23R was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: IL23R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL23R were set to 30578351 Phenotypes for gene: IL23R were set to Susceptibility to mycobacteria and Salmonella Review for gene: IL23R was set to RED