Defects of intrinsic and innate immunity
Gene: IRF3EnsemblGeneIds (GRCh38): ENSG00000126456
EnsemblGeneIds (GRCh37): ENSG00000126456
OMIM: 603734, Gene2Phenotype
IRF3 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two affected individuals reported, reduced penetrance, mouse model.
Sources: Expert listCreated: 9 Jan 2020, 10:55 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Expert Review Amber
- Expert list
- Phenotypes
-
- encephalitis, acute, infection-induced, susceptibility to MONDO:0800174
- OMIM
- 603734
- Clinvar variants
- Variants in IRF3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: irf3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: IRF3 was added gene: IRF3 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: IRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRF3 were set to 26216125; 20660188; 26513235 Phenotypes for gene: IRF3 were set to encephalitis, acute, infection-induced, susceptibility to MONDO:0800174