Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: IL23R

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 3 May 2024, 8:36 p.m. | Last Modified: 3 May 2024, 8:36 p.m.

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.

Created: 4 Jan 2024, 10:26 a.m. | Last Modified: 4 Jan 2024, 10:26 a.m.

Panel Version: 4.137

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
inherited susceptibility to mycobacterial diseases, MONDO:0019146; chronic mucocutaneous candidiasis, MONDO:0015279

Publications

• 36763636

Green List (high evidence)

Novel study 36763636 reported 6 cases from 4 families with biallelic variants in IL23R and functional studies.

Created: 13 Mar 2023, 6:54 a.m. | Last Modified: 13 Mar 2023, 6:54 a.m.

Panel Version: 3.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mendelian susceptibility to mycobacterial disease (MSMD); chronic mucocutaneous candidiasis (CMC)

Publications

• 36763636

Comment on list classification: Gene given Red gene status based on expert review. This gene is also found in the IUIS 2019 paper (PMID: 31953710)

Created: 22 Apr 2020, 12:27 p.m. | Last Modified: 22 Apr 2020, 12:27 p.m.

Panel Version: 2.115

Red List (low evidence)

Single family reported.
Sources: Expert list

Created: 16 Apr 2020, 11:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to mycobacteria and Salmonella

Publications

• 30578351