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  2. Defects of intrinsic and innate immunity
  3. IRF1
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Defects of intrinsic and innate immunity

Gene: IRF1

Green List (high evidence)
IRF1 (interferon regulatory factor 1)
EnsemblGeneIds (GRCh38): ENSG00000125347
EnsemblGeneIds (GRCh37): ENSG00000125347
OMIM: 147575, Gene2Phenotype
IRF1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

2 unrelated individuals with homozygous LoF variants and extensive functional data.
Created: 15 Oct 2023, 7:24 a.m. | Last Modified: 15 Oct 2023, 7:24 a.m.
Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668

Created: 15 Oct 2023, 7:24 a.m.
Last Modified: 15 Oct 2023, 7:24 a.m.
Panel version: Imported from Mendelian susceptibility to Immune Disorders panel version 0.41

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Two unrelated children with recurrent early-onset life-threatening mycobacterial diseases due to multiple mycobacteria (BCG, M. avium) with supporting functional data.
Sources: Literature
Created: 11 Oct 2023, 10:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to mycobacterial disease

Publications

Created: 11 Oct 2023, 10:48 p.m.

Panel version: Imported from Mendelian susceptibility to Immune Disorders panel version 0.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668
OMIM
147575
Clinvar variants
Variants in IRF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: irf1 has been classified as Green List (High Evidence).

10 Nov 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: IRF1 were changed from to Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668

10 Nov 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: IRF1 were set to

10 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: irf1 has been classified as Green List (High Evidence).

10 Nov 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: IRF1 was added gene: IRF1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: IRF1 was set to BIALLELIC, autosomal or pseudoautosomal