Genes in panel
STRs in panel
Prev Next

COVID-19 research

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 15 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Biallelic variants associated with susceptibility to RNA viruses.
Created: 31 Mar 2020, 1:27 p.m. | Last Modified: 31 Mar 2020, 1:27 p.m.
Panel Version: 0.31

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Note that an allelic autosomal recessive LOF disorder has been described as causing susceptibility to RNA viruses (PMID 28606988)
Created: 29 Jun 2018, 2:18 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Created: 4 Jul 2018, 11:01 a.m.
Comment on mode of pathogenicity: Allelic autosomal dominant GOF disorder has been described as causing Aicardi-Goutieres syndrome 7. Allelic autosomal recessive LOF disorder has been described as causing susceptibility to RNA viruses
Created: 4 Jul 2018, 10:59 a.m.
Comment on mode of inheritance: changed form AD to both monoallelic and biallelic
Created: 4 Jul 2018, 10:55 a.m.
Comment on phenotypes: added specific MOI to the two observed immunological phenotypes associated to this gene
Created: 4 Jul 2018, 10:52 a.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IFIH1 .PanelApp HGNC gene symbol check: IFIH1 . IUIS Disease: MDA5 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Somatic and hematopoietic. IUIS Associated features: Rhinovirus and other RNA viruses. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Predisposition to Severe Viral Infection. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IFIH1 (GOF) .PanelApp HGNC gene symbol check: IFIH1 . IUIS Disease: Aicardi-Goutieres syndrome 7 (AGS7) . IUIS Inheritance: AD .T cells: Nl number, nl/low function, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Classical AGS, SLE, SP, SMS. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Type 1 Interferonopathies.
Created: 2 Jul 2018, 10:53 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IFIH1, GRID_Gene_Symbol: IFIH1, GRID_Transcript_ENS_Community submitted: ENST00000263642, GRID_Transcript_RefSeq: NM_022168.3, GRID_Transcript_ENS_used_on_Production: ENST00000263642
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Rhinovirus and other RNA viruses (AR)
  • Classical AGS, SLE, SP, SMS
  • Autoinflammatory Disorders
  • Aicardi-Goutieres syndrome 7 (AD)
  • susceptibility to RNA viruses
  • Recurrent and prolonged infections
  • Defects in Intrinsic and Innate Immunity
OMIM
606951
Clinvar variants
Variants in IFIH1
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Set mode of inheritance, Set mode of pathogenicity, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene IFIH1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mode of pathogenicity for gene IFIH1 was changed from None to Other - please provide details in the comments Added phenotypes Rhinovirus and other RNA viruses (AR); Classical AGS, SLE, SP, SMS; Autoinflammatory Disorders; Defects in Intrinsic and Innate Immunity; Aicardi-Goutieres syndrome 7 (AD); susceptibility to RNA viruses for gene: IFIH1 Publications for gene IFIH1 were updated from 29018476; 28606988 to 29018476; 28606988; 28716935

31 Mar 2020, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: IFIH1 were set to 29018476

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

6 Nov 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Nov 2017, Gel status: 0

Added New Source

Ellie McDonagh (Genomics England)

IFIH1 was added to Monogenic viral susceptibility panel. Sources: Literature

6 Nov 2017, Gel status: 0

Created

Ellie McDonagh (Genomics England)

IFIH1 was created by Ellie McDonagh