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COVID-19 research

Gene: IFNAR2

Green List (high evidence)

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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