Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v8.47 IFNAR1 Achchuthan Shanmugasundram Classified gene: IFNAR1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.47 IFNAR1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is sufficient evidence available for the association of biallelic IFNAR1 variants with immunodeficiency, this gene can be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.47 IFNAR1 Achchuthan Shanmugasundram Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.46 IFNAR1 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: IFNAR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.46 IFNAR1 Achchuthan Shanmugasundram Phenotypes for gene: IFNAR1 were changed from IFNAR1 associated adverse reactions to certain live attenuated viral vaccines to Immunodeficiency 106, susceptibility to viral infections, OMIM:619935; immunodeficiency 106, susceptibility to viral infections, MONDO:0030970
Primary immunodeficiency or monogenic inflammatory bowel disease v8.45 IFNAR1 Achchuthan Shanmugasundram Publications for gene: IFNAR1 were set to 31270247; 26676772; 20020050
Primary immunodeficiency or monogenic inflammatory bowel disease v8.44 IFNAR1 Achchuthan Shanmugasundram reviewed gene: IFNAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31270247, 33252644, 32960813, 35442418, 35091979; Phenotypes: Immunodeficiency 106, susceptibility to viral infections, OMIM:619935, immunodeficiency 106, susceptibility to viral infections, MONDO:0030970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.90 PARP1 Sarah Leigh gene: PARP1 was added
gene: PARP1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: PARP1 was set to Unknown
Publications for gene: PARP1 were set to 31915279
Review for gene: PARP1 was set to RED
Added comment: PARP1 Enhances Influenza A Virus Propagation by Facilitating Degradation of Host Type I Interferon Receptor. Therefore, activiation of PARP1 could promote Influenza infection, by interfering with the IFNAR1.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.42 IFNAR1 Sarah Leigh Classified gene: IFNAR1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.42 IFNAR1 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. However, the publications listed below give evidence that the three LOF variants in two unrelated cases are associated with an adverse reaction to attenuated virus vaccines, which are rescued by wt IFNAR1 protein in vitro.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.42 IFNAR1 Sarah Leigh Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.41 IFNAR1 Sarah Leigh Added comment: Comment on publications: PMID 31270247: reports two cases of healthy children with adverse reactions to live attuated virus vaccines. Each had biallelic loss-of-function IFNAR1 variations and the effects of these was demonstrated by the patient-derived fibroblasts being susceptible to viruses. This effect was recused by the WT IFNAR1.
PMID 26676772: reports the tageted degradation of IFNAR1 protein by
Influenza A virus (IAV), allowing the virus to escape the powerful innate immune system. Thus the loss of function of IFNAR1 would increase the susceptability to viral infection.
PMID 20020050: reports the tageted degradation of IFNAR1 protein by Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV). Confocal microscopic analysis showed increased translocation of IFNAR1 into the lysosomal compartment and flow cytometry showed reduced levels of IFNAR1 in 3a-expressing cells.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.41 IFNAR1 Sarah Leigh Publications for gene: IFNAR1 were set to 31270247; 26676772; 20020050
Primary immunodeficiency or monogenic inflammatory bowel disease v2.40 IFNAR1 Sarah Leigh gene: IFNAR1 was added
gene: IFNAR1 was added to Primary immunodeficiency. Sources: Expert Review,Literature
Mode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR1 were set to 31270247; 26676772; 20020050
Phenotypes for gene: IFNAR1 were set to IFNAR1 associated adverse reactions to certain live attenuated viral vaccines
Review for gene: IFNAR1 was set to AMBER
Added comment: Hypothesis from Abdelazeem Elhabyan (Tanta University Hospitals): this gene is involved in the interferon-mediated immune response to viruses of those is SARS Coronavirus (2003) which down-regulates the IFNAR1 receptors through its 3a protein. Additionally, Influenzavirus A suppress immune response by downregulation of this gene. It has been also linked to adverse reactions to measles and yellow fever vaccines in healthy individuals.
Sources: Expert Review, Literature