Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: IFNAR2

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 2 Feb 2023, 11:32 a.m. | Last Modified: 2 Feb 2023, 11:32 a.m.

Panel Version: 3.4

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel review.

Created: 6 Sep 2022, 2:12 p.m. | Last Modified: 6 Sep 2022, 2:12 p.m.

Panel Version: 2.577

Associated with a relevant phenotype in OMIM (MIM# 616669) but not yet in G2P. At least five unrelated individuals have been reported with severe adverse reaction to live-attenuated viral vaccines due to biallelic variants in this gene, supported by functional data (PMID: 26424569; 33193576; 33544838; 35442417). Multiple studies also published linking IFNAR2 variants with severe COVID-19 infection (PMID: 33337932; 34273592; 35967349)

Created: 6 Sep 2022, 2:11 p.m. | Last Modified: 6 Sep 2022, 2:11 p.m.

Panel Version: 2.575

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 45, OMIM:616669

Publications

• 26424569
• 33193576
• 33544838
• 35442417
• 35944424

I don't know

In review 35986347 report on study + family with severe COVID and biallelic IFNAR2 variant.

Created: 30 Aug 2022, 6:52 p.m. | Last Modified: 30 Aug 2022, 6:53 p.m.

Panel Version: 2.574

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 35986347

Comment on mode of inheritance: Added MOI suggested by external review

Created: 6 Jul 2018, 12:46 p.m.

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IFNAR2 .PanelApp HGNC gene symbol check: IFNAR2 . IUIS Disease: IFNAR2 deficiency . IUIS Inheritance: AR .T cells: Nl number, low cytokine production, poor antigen proliferation, .B cells: N/A, .IUIS Other affected cells: Broadly expressed. IUIS Associated features: Severe viral infections (disseminated vaccine-strain measles, HHV6). IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Predisposition to Severe Viral Infection

Created: 6 Jul 2018, 12:28 p.m.

Red List (low evidence)

1 kindred, proband and sibling shared homozygous variant but severe viral disease did not occur in the latter (possibly because of active management)

Created: 29 Jun 2018, 9:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
susceptibility to severe viral disease

Publications

• 26424569