Defects of intrinsic and innate immunity

Gene: IFIH1

Green List (high evidence)

IFIH1 (interferon induced with helicase C domain 1)
EnsemblGeneIds (GRCh38): ENSG00000115267
EnsemblGeneIds (GRCh37): ENSG00000115267
OMIM: 606951, Gene2Phenotype
IFIH1 is in 17 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Biallelic loss of function variants cause a predisposition to severe viral infections. IUIS IEI committee classify the condition as a defect in intrinsic and innate immunity.
Sources: Expert list
Created: 21 Nov 2024, 9:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 95 MIM#619773

Publications

Sarah Pantaleo (Victorian Clinical Genetics Services)

Green List (high evidence)

Rare, likely loss-of-functions IFIH1 variants identified in eight patients with Very Early Onset Inflammatory Bowel Disease (VEOIBD) with VEOIBD from a combined cohort of 42 children. One homozygous truncating variant in a neonate from a consanguineous family, seven carriers of LoF variants (three of whom also have a second hypomorphic missense variant). Luciferase reporter assays employed to assess MDA5 activity (encoded by IFIH1). In three cases, the functional studies demonstrated that the second missense variant either did not affect protein function or was in cis with the LoF variant.
Created: 6 Sep 2021, 5:55 a.m. | Last Modified: 6 Sep 2021, 5:55 a.m.
Panel Version: 0.77

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Inflammatory Bowel Disease

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated individuals with mono allelic LoF variants reported from a cohort of children admitted to ICU with severe respiratory infections (PMID:28716935). Another individual with bi-allelic variants and recurrent and prolonged infections also reported (PMID: 29018476)
Sources: Expert list
Created: 5 Apr 2020, 8 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Severe viral respiratory infections; Rhinovirus and other RNA viruses

Publications

History Filter Activity

21 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ifih1 has been classified as Green List (High Evidence).

21 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ifih1 has been classified as Green List (High Evidence).

21 Nov 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: IFIH1 was added gene: IFIH1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: IFIH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFIH1 were set to 28606988; 29018476; 28716935; 34185153 Phenotypes for gene: IFIH1 were set to Immunodeficiency 95 MIM#619773 Review for gene: IFIH1 was set to GREEN