COVID-19 research
Gene: IFNAR2

IFNAR2 (interferon alpha and beta receptor subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000159110
EnsemblGeneIds (GRCh37): ENSG00000159110
OMIM: 602376, Gene2Phenotype
IFNAR2 is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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.

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

Panel version: Imported from Primary immunodeficiency panel version 0.1567

Sophie Hambleton (Newcastle University)

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

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

Panel version: Imported from Primary immunodeficiency panel version 0.1371

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
IUIS Classification December 2019
IUIS Classification February 2018
IUIS Classification December 2019
IUIS Classification February 2018

Phenotypes

?Immunodeficiency 45, 616669
Severe viral infections (disseminated vaccine-strain measles, HHV6)
Defects in Intrinsic and Innate Immunity

OMIM

602376

Clinvar variants

Variants in IFNAR2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to IFNAR2. Added phenotypes ?Immunodeficiency 45, 616669; Severe viral infections (disseminated vaccine-strain measles, HHV6); Defects in Intrinsic and Innate Immunity for gene: IFNAR2 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: IFNAR2 was added gene: IFNAR2 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: IFNAR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFNAR2 were set to 32086639; 32048120; 26424569 Phenotypes for gene: IFNAR2 were set to ?Immunodeficiency 45, 616669; Severe viral infections (disseminated vaccine-strain measles, HHV6); Defects in Intrinsic and Innate Immunity

COVID-19 research Gene: IFNAR2