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| COVID-19 research v0.302 | MBL2 | Eleanor Williams commented on gene: MBL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.302 | TMPRSS11A |
Eleanor Williams gene: TMPRSS11A was added gene: TMPRSS11A was added to COVID-19 research. Sources: Literature Mode of inheritance for gene: TMPRSS11A was set to Unknown Publications for gene: TMPRSS11A were set to https://doi.org/10.1101/2020.05.13.093690 Review for gene: TMPRSS11A was set to RED Added comment: Preprint: Klaassen et al https://doi.org/10.1101/2020.05.13.093690 - performed analysis of variants in FURIN, PLG, PRSS1, TMPRSS11a, MBL2 and OAS1 genes in 143 unrelated individuals from Serbian population and identified 22 variants with potential functional effect. Then used in-silico prediction and comparative population analysis and found 2 rare variants p.Lys48Arg and p.Arg328Gln. For both of these variants, PolyPhen-2, SIFT and MutPred2 algorithms predict benign/tolerated effect but the protein structure of TMPRSS11a is not well known. Sources: Literature |
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| COVID-19 research v0.301 | PRSS1 |
Eleanor Williams gene: PRSS1 was added gene: PRSS1 was added to COVID-19 research. Sources: Literature Mode of inheritance for gene: PRSS1 was set to Unknown Publications for gene: PRSS1 were set to https://doi.org/10.1101/2020.05.13.093690 Added comment: Preprint: Klaassen et al https://doi.org/10.1101/2020.05.13.093690 - performed analysis of variants in FURIN, PLG, PRSS1, TMPRSS11a, MBL2 and OAS1 genes in 143 unrelated individuals from Serbian population and identified 22 variants with potential functional effect. Then used in-silico prediction and comparative population analysis and found two rare variants in the PRSS1 gene, c.592-8C>T and p.Asn54Lys. Variant c.592-8C>T was previously detected in patients with cystic fibrosis presenting with chronic pancreatitis and p.Asn54Lys is predicted to be possibly damaging. Sources: Literature |
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| COVID-19 research v0.300 | PLG |
Eleanor Williams gene: PLG was added gene: PLG was added to COVID-19 research. Sources: Literature Mode of inheritance for gene: PLG was set to Unknown Publications for gene: PLG were set to https://doi.org/10.1101/2020.05.13.093690 Review for gene: PLG was set to RED Added comment: Preprint: Klaassen et al https://doi.org/10.1101/2020.05.13.093690 - performed analysis of variants in FURIN, PLG, PRSS1, TMPRSS11a, MBL2 and OAS1 genes in 143 unrelated individuals from Serbian population and identified 22 variants with potential functional effect. Then used in-silico prediction and comparative population analysis and found 6 rare variants in PLG. p.Arg261His and p.Ala494Val are predicted to be probably damaging/deleterious. Sources: Literature |
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| COVID-19 research v0.299 | FURIN |
Eleanor Williams commented on gene: FURIN: Preprint: Klaassen et al https://doi.org/10.1101/2020.05.13.093690 - performed analysis of variants in FURIN, PLG, PRSS1, TMPRSS11a, MBL2 and OAS1 genes in 143 unrelated individuals from Serbian population and identified 22 variants with potential functional effect. Then used in-silico prediction and comparative population analysis and found two rare variants in FURIN p.Thr33Ala and p.Gly146Ser. p.Gly146Ser. is predicted to be deleterious and may change its ability to cleave furin-like sites in the S protein of the SARS-CoV-2. |
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| COVID-19 research v0.36 | MBL2 |
Ellen McDonagh Mode of inheritance for gene MBL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Mannose-binding lectin deficiency (MBL); Chronic infections, due to MBL deficiency; Mannose-Binding Protein Deficiency, 614372 for gene: MBL2 Publications for gene MBL2 were updated from 16170752; 19405982; 25818534; 16185324; 15838797 to 16185324; 28347655; 10888598; 19405982; 1458688; 16170752; 15838797; 7707811; 25818534 |
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| COVID-19 research v0.14 | MBL2 | Ellen McDonagh commented on gene: MBL2: PMID: 25818534 reports that the CCL2 G-2518A and MBL codon 54 variants have a significantly cumulative effect on increased risk of SARS-CoV infection. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.14 | MBL2 | Ellen McDonagh Phenotypes for gene: MBL2 were changed from Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection to Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection; susceptibility to SARS-CoV | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.12 | MBL2 | Ellen McDonagh commented on gene: MBL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.12 | MBL2 |
Ellen McDonagh gene: MBL2 was added gene: MBL2 was added to Monogenic viral susceptibility. Sources: Literature Mode of inheritance for gene: MBL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MBL2 were set to 16170752; 19405982; 25818534; 16185324; 15838797 Phenotypes for gene: MBL2 were set to Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection |
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