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  3. IFNAR1
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Defects of intrinsic and innate immunity

Gene: IFNAR1

Green List (high evidence)
IFNAR1 (interferon alpha and beta receptor subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000142166
EnsemblGeneIds (GRCh37): ENSG00000142166
OMIM: 107450, Gene2Phenotype
IFNAR1 is in 3 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Severe disease caused by Yellow Fever vaccine and Measles vaccine, severe COVID-19.
Sources: Expert list
Created: 16 Dec 2024, 5:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
immunodeficiency 106, susceptibility to viral infections MONDO:0030970

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Dec 2024, 5:51 a.m.

Panel version: 1.1

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Seven children from five unrelated kindreds
Created: 11 Jul 2022, 4:10 a.m. | Last Modified: 11 Jul 2022, 4:10 a.m.
Panel Version: 0.83

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe Viral disease

Publications

Created: 11 Jul 2022, 4:10 a.m.
Last Modified: 11 Jul 2022, 4:10 a.m.
Panel version: Imported from Susceptibility to Viral Infections panel version 0.83

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated individuals reported with bi-allelic LoF variants, some functional data.
Sources: Expert list
Created: 5 Apr 2020, 7:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe disease caused by Yellow Fever vaccine and Measles vaccine

Publications

Created: 5 Apr 2020, 7:45 a.m.

Panel version: Imported from Susceptibility to Viral Infections panel version 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • immunodeficiency 106, susceptibility to viral infections MONDO:0030970
OMIM
107450
Clinvar variants
Variants in IFNAR1
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: ifnar1 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: IFNAR1 was added gene: IFNAR1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFNAR1 were set to 35442418; 31270247 Phenotypes for gene: IFNAR1 were set to immunodeficiency 106, susceptibility to viral infections MONDO:0030970 Review for gene: IFNAR1 was set to GREEN gene: IFNAR1 was marked as current diagnostic