COVID-19 research

Gene: IRF7

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe influenza

Publications

• 25814066

I don't know

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IRF7 .PanelApp HGNC gene symbol check: IRF7 . IUIS Disease: IRF7 deficiency . IUIS Inheritance: AR .T cells: Normal or decreased CD4 numbers, T cell dysregulation, .B cells: N/A, .IUIS Other affected cells: Leukocytes, plasmacytoid dendritic cells, Non-hematopoietic cells. IUIS Associated features: Severe influenza disease . IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Predisposition to Severe Viral Infection

Created: 2 Jul 2018, 10:35 a.m.

Comment on list classification: Keep Amber until more info on gene and disease association, Interferon regulation shown in one family (two affecteds), request evidences from GRID and Victorian Clinical Genetics Services

Created: 21 Jun 2018, 9:58 p.m.

Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Amber- only one family, two cases

Created: 21 Jun 2018, 9:31 p.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: IRF7, GRID_Gene_Symbol: IRF7, GRID_Transcript_ENS_Community submitted: ENST00000397566, GRID_Transcript_RefSeq: NM_001572.3, GRID_Transcript_ENS_used_on_Production: ENST00000397566

Created: 17 Apr 2018, 12:12 p.m.

Mode of inheritance
Unknown

Phenotypes
Severe influenza

Publications

• 26621750