Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IFNAR2
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
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
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
Comment on mode of inheritance: Added MOI suggested by external reviewCreated: 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 InfectionCreated: 6 Jul 2018, 12:28 p.m.
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
Tag Q3_22_rating was removed from gene: IFNAR2.
Source Expert Review Green was added to IFNAR2. Source NHS GMS was added to IFNAR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ifnar2 has been classified as Amber List (Moderate Evidence).
Publications for gene: IFNAR2 were set to 32048120; 26424569; 32086639
Tag Q3_22_rating tag was added to gene: IFNAR2.
Phenotypes for gene: IFNAR2 were changed from Defects in Intrinsic and Innate Immunity; Severe viral infections (disseminated vaccine-strain measles, HHV6); ?Immunodeficiency 45, 616669 to Immunodeficiency 45, OMIM:616669
Source IUIS Classification December 2019 was added to IFNAR2. Added phenotypes Severe viral infections (disseminated vaccine-strain measles, HHV6) for gene: IFNAR2 Publications for gene IFNAR2 were updated from 26424569 to 32048120; 26424569; 32086639
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: ifnar2 has been classified as Red List (Low Evidence).
Phenotypes for gene: IFNAR2 were set to ?Immunodeficiency 45, 616669; Severe viral infections (disseminated vaccine-strain measles, HHV6); Defects in Intrinsic and Innate Immunity
Publications for gene: IFNAR2 were set to 26424569
Mode of inheritance for gene: IFNAR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene IFNAR2 were set to Severe viral infections (disseminated vaccine-strain measles, HHV6), Defects in Intrinsic and Innate Immunity
IFNAR2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
IFNAR2 was created by Louise Daugherty