Defects of intrinsic and innate immunity
Gene: IFNGEnsemblGeneIds (GRCh38): ENSG00000111537
EnsemblGeneIds (GRCh37): ENSG00000111537
OMIM: 147570, Gene2Phenotype
IFNG is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Now 2 unrelated homozygous cases reported with some supporting functional assays.
Sources: Expert listCreated: 16 Dec 2024, 6:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
inherited susceptibility to mycobacterial diseases MONDO:0019146
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- inherited susceptibility to mycobacterial diseases MONDO:0019146
- OMIM
- 147570
- Clinvar variants
- Variants in IFNG
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ifng has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ifng 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: IFNG was added gene: IFNG was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: IFNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFNG were set to 32163377; 38363432 Phenotypes for gene: IFNG were set to inherited susceptibility to mycobacterial diseases MONDO:0019146 Review for gene: IFNG was set to AMBER