COVID-19 research

Gene: IFIH1

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

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

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

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

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.