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Mendeliome

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 36736301: Two unrelated children with recurrent early-onset life-threatening mycobacterial diseases due to multiple mycobacteria (BCG, M. avium). Homozygous LoF vairiants with extensive supporting functional data.
Created: 15 Oct 2023, 7:28 a.m. | Last Modified: 15 Oct 2023, 7:28 a.m.
Panel Version: 1.1296
No evidence for association with Mendelian disease.
Created: 16 Mar 2022, 9:05 a.m. | Last Modified: 16 Mar 2022, 9:05 a.m.
Panel Version: 0.11460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

13 Jan 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IRF1 were changed from Inherited susceptibility to mycobacterial disease, MONDO:0019146, IRF1-related to Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668

15 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IRF1 were changed from to Inherited susceptibility to mycobacterial disease, MONDO:0019146, IRF1-related

15 Oct 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IRF1 were set to

15 Oct 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

15 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: irf1 has been classified as Red List (Low Evidence).

16 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: irf1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IRF1 was added gene: IRF1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IRF1 was set to Unknown