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Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 IRF1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: IRF1.
Tag Q3_25_NHS_review was removed from gene: IRF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 IRF1 Ida Ertmanska reviewed gene: IRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 IRF1 Ida Ertmanska Source NHS GMS was added to IRF1.
Source Expert Review Green was added to IRF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.32 IRF1 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: IRF1.
Tag Q3_25_NHS_review tag was added to gene: IRF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.32 IRF1 Achchuthan Shanmugasundram Classified gene: IRF1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.32 IRF1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are two unrelated cases and functional evidence in support of the association of biallelic IRF1 variants to immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.32 IRF1 Achchuthan Shanmugasundram Gene: irf1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.31 IRF1 Achchuthan Shanmugasundram Phenotypes for gene: IRF1 were changed from Immunodeficiency 117, mycobacteriosis, autosomal recessive to Immunodeficiency 117, mycobacteriosis, autosomal recessive, OMIM:620668
Primary immunodeficiency or monogenic inflammatory bowel disease v8.30 IRF1 Achchuthan Shanmugasundram Publications for gene: IRF1 were set to PMID: 36736301
Primary immunodeficiency or monogenic inflammatory bowel disease v8.29 IRF1 Achchuthan Shanmugasundram reviewed gene: IRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36736301; Phenotypes: Immunodeficiency 117, mycobacteriosis, autosomal recessive, OMIM:620668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v8.19 IRF1 Hannah Knight gene: IRF1 was added
gene: IRF1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: IRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRF1 were set to PMID: 36736301
Phenotypes for gene: IRF1 were set to Immunodeficiency 117, mycobacteriosis, autosomal recessive
Review for gene: IRF1 was set to GREEN
Added comment: 2 unrelated children, each born of consanguineous parents of Latin American and Turkish descent, respectively, who presented in early childhood with recurrent and severe mycobacterial disease, including BCG infections and infections with M. avium complex. Two different homozygous nonsense variants in IRF1 (p.R129X and p.Q35X).
Also supportive functional data
Sources: Literature