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| COVID-19 research v0.180 | SLC7A7 | Sophie Hambleton reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10080182, 28057010, 21308987; Phenotypes: lysinuric protein intolerance, failure to thrive, hyperammonaemia, encephalopathy, developmental disability, nephropathy, lupus nephritis, haemophagocytic lymphophistiocytosis, pancreatitis, pulmonary alveolar proteinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.40 | SLC7A7 |
Ellen McDonagh Source Expert Review Green was added to SLC7A7. Added phenotypes Lysinuric protein intolerance, 222700; Severe bacterial infections; Lysinuric protein intolerance SLC7A7 deficiency; Predominantly Antibody Deficiencies for gene: SLC7A7 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| COVID-19 research v0.36 | SLC7A7 |
Ellen McDonagh gene: SLC7A7 was added gene: SLC7A7 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A7 were set to 28057010; 32086639; 32048120 Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700; Severe bacterial infections; Lysinuric protein intolerance SLC7A7 deficiency; Predominantly Antibody Deficiencies |
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| COVID-19 research v0.36 | TTC7A |
Ellen McDonagh gene: TTC7A was added gene: TTC7A was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC7A were set to 24292712; 23830146; 23423984; 24417819 Phenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, 243150; Immunodeficiencies with multiple intestinal atresias; Combined immunodeficiency; Combined immunodeficiency-enteropathy spectrum; Bacterial (sepsis), fungal, viral infections, multiple intestinal atresias, often with intrauterine polyhydramnios and early demise, some with SCID phenotype; Combined immunodeficiencies with associated or syndromic features; Multiple intestinal atresia and severe combined immunodeficiency |
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| COVID-19 research v0.36 | C7 |
Ellen McDonagh gene: C7 was added gene: C7 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C7 were set to 16771861; 15554930; 9844043; 7762578 Phenotypes for gene: C7 were set to Disseminated neisserial infections; Complement component 7 deficiency; Complement Deficiencies; C7 deficiency, 610102; Susceptibility to invasive bacterial infection, especially meningococcal |
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| COVID-19 research v0.34 | TMEM173 |
Ellen McDonagh commented on gene: TMEM173: Additional evidence added to the publication list, provided by Abdelazeem Elhabyan. Comments from Abdelazeem Elhabyan: GenBank - https://www.ncbi.nlm.nih.gov/gene?term=(human%5BOrganism%5D)%20AND%20TMEM173%5BGene%20Name%5D) This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. Hypothesis: This gene is involved in interferon 1 pathway which is directly related to viral innate immune response. Upregulation may be associated with a protective effect or autoinflammatory response with aggravating effect. This is to be determined by clinical trials. Highest organ of expression is the lung in genbank (Pneumonia caused by corona) RPKM ,\mean is 37 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069765/ Extracellular vesicles released by virally infected cells(HSV) that carry STING can induce protective effect against viral replication in neighbouring non infected cells https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146713/ Virulent Poxviruses Inhibit DNA Sensing by Preventing STING Activation https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923072/ The gene is involved in acute pancreatitis in mice https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112120/ |
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