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Primary immunodeficiency

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

4 reviews

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
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Aicardi-Goutieres syndrome 7 (AD)
  • Classical AGS, SLE, SP, SMS
  • Autoinflammatory Disorders
  • Rhinovirus and other RNA viruses (AR)
  • susceptibility to RNA viruses
  • 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

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to IFIH1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to IFIH1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to IFIH1.

12 Jul 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

4 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

4 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

4 Jul 2018, Gel status: 2

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for gene: IFIH1 was changed to Other - please provide details in the comments

4 Jul 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: IFIH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Jul 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 (AD); Classical AGS, SLE, SP, SMS; Autoinflammatory Disorders; Rhinovirus and other RNA viruses (AR); susceptibility to RNA viruses; Defects in Intrinsic and Innate Immunity

4 Jul 2018, Gel status: 2

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for gene: IFIH1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

4 Jul 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: IFIH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Jul 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7; Rhinovirus and other RNA viruses; Defects in Intrinsic and Innate Immunity; Classical AGS, SLE, SP, SMS; Autoinflammatory Disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to IFIH1. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to IFIH1. Panel: Primary immunodeficiency disorders

21 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IFIH1 were set to 29018476; 28716935; 28606988

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to IFIH1. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene IFIH1 were set to Aicardi-Goutieres syndrome 7

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IFIH1 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

IFIH1 was created by Louise Daugherty