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  3. IFNAR2
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Defects of intrinsic and innate immunity

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 3 panels

2 reviews

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Five children from Greenland, Canada, and Alaska presenting with viral diseases, including life-threatening COVID-19 or influenza, in addition to meningoencephalitis and/or hemophagocytic lymphohistiocytosis following live-attenuated viral vaccination
Created: 11 Jul 2022, 4:12 a.m. | Last Modified: 11 Jul 2022, 4:12 a.m.
Panel Version: 0.83

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe viral disease

Publications

Created: 11 Jul 2022, 4:12 a.m.
Last Modified: 11 Jul 2022, 4:12 a.m.
Panel version: Imported from Susceptibility to Viral Infections panel version 0.83

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported.
Sources: Expert list
Created: 5 Apr 2020, 7:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 45, MIM# 616669

Publications

Created: 5 Apr 2020, 7:51 a.m.

Panel version: Imported from Susceptibility to Viral Infections panel version 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • immunodeficiency 45 MONDO:0014727
OMIM
602376
Clinvar variants
Variants in IFNAR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ifnar2 has been classified as Green List (High Evidence).

16 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IFNAR2 was added gene: IFNAR2 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: IFNAR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFNAR2 were set to 35442417; 26424569 Phenotypes for gene: IFNAR2 were set to immunodeficiency 45 MONDO:0014727