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| COVID-19 research v0.163 | DBR1 | Sophie Hambleton reviewed gene: DBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29474921; Phenotypes: Susceptibility to viral encephalitis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.75 | DBR1 |
Abdelazeem Elhabyan changed review comment from: I found that it has been promoted from the Australling susceptibility to viral infections on this link https://panelapp.agha.umccr.org/panels/237/gene/DBR1/ This is based on this notion : Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants. When I reviewed the paper, I found a notion of influenza viral encephalitis among other viruses(eg HSV-1) and a suggestion that this predisposition to the disease is due to involvement of DBR1 in intrinsic resistance of brainstem cells to those viruses via the enzyme encoded by DBR1.; to: I found that it has been promoted from the Australling susceptibility to viral infections on this link https://panelapp.agha.umccr.org/panels/237/gene/DBR1/ This is based on this notion in this paper : https://pubmed.ncbi.nlm.nih.gov/29474921/ Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants. When I reviewed the paper, I found a notion of influenza viral encephalitis among other viruses(eg HSV-1) and a suggestion that this predisposition to the disease is due to the involvement of DBR1 in intrinsic resistance of brainstem cells to those viruses via the enzyme encoded by DBR1. |
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| COVID-19 research v0.75 | DBR1 |
Abdelazeem Elhabyan commented on gene: DBR1: I found that it has been promoted from the Australling susceptibility to viral infections on this link https://panelapp.agha.umccr.org/panels/237/gene/DBR1/ This is based on this notion : Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants. When I reviewed the paper, I found a notion of influenza viral encephalitis among other viruses(eg HSV-1) and a suggestion that this predisposition to the disease is due to involvement of DBR1 in intrinsic resistance of brainstem cells to those viruses via the enzyme encoded by DBR1. |
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| COVID-19 research v0.62 | DBR1 | Louise Daugherty Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.62 | DBR1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.60 | DBR1 | Louise Daugherty changed review comment from: PanelApp curators : you might need to re-review all the Green genes on this panel that were previously rated as Red on the PID panel, there may have been an error with the automatic upload changing Red Genes to Expert Review Green (https://panelapp.genomicsengland.co.uk/panels/398/gene/DBR1/), other examples are POLE2, BRCA1, BRCA2, ERCC4 etc unless there is evidence missed from the upload?; to: PanelApp curators : you might need to re-review all the Green genes on this panel that were previously rated as Red on the PID panel, there may have been an error with the automatic upload changing Red Genes to Expert Review Green (https://panelapp.genomicsengland.co.uk/panels/398/gene/DBR1/), other examples are IFNAR2, POLE2, BRCA1, BRCA2, ERCC4 etc unless there is evidence missed from the upload? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.60 | DBR1 | Louise Daugherty changed review comment from: PanelApp curators : you might need to all the Green genes on this panel that were previously rated as Red on the PID panel, there may have been an error with the automatic upload changing Red Genes to Expert Review Green (https://panelapp.genomicsengland.co.uk/panels/398/gene/DBR1/), other examples are POLE2, BRCA1, BRCA2, ERCC4 etc unless there is evidence missed from the upload?; to: PanelApp curators : you might need to re-review all the Green genes on this panel that were previously rated as Red on the PID panel, there may have been an error with the automatic upload changing Red Genes to Expert Review Green (https://panelapp.genomicsengland.co.uk/panels/398/gene/DBR1/), other examples are POLE2, BRCA1, BRCA2, ERCC4 etc unless there is evidence missed from the upload? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.60 | DBR1 | Louise Daugherty changed review comment from: PanelApp curators : you might need to all the Green genes on this panel that were previously rated as Red on the PID panel, there may have been an error with the automatic upload changing Red Genes to Expert Review Green (https://panelapp.genomicsengland.co.uk/panels/398/gene/DBR1/), other examples are POLE2, BRCA1, BRCA2, ERCC4 etc unless there as evidence missed from the upload?; to: PanelApp curators : you might need to all the Green genes on this panel that were previously rated as Red on the PID panel, there may have been an error with the automatic upload changing Red Genes to Expert Review Green (https://panelapp.genomicsengland.co.uk/panels/398/gene/DBR1/), other examples are POLE2, BRCA1, BRCA2, ERCC4 etc unless there is evidence missed from the upload? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.60 | DBR1 | Louise Daugherty reviewed gene: DBR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.59 | DBR1 | Abdelazeem Elhabyan reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.40 | DBR1 |
Ellen McDonagh Source Expert Review Green was added to DBR1. Added phenotypes DBR1 deficiency; HSE of the brainstem. Other viral infections of the brainstem; Defects in intrinsic and innate immunity for gene: DBR1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| COVID-19 research v0.36 | DBR1 |
Ellen McDonagh gene: DBR1 was added gene: DBR1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBR1 were set to 32086639; 32048120 Phenotypes for gene: DBR1 were set to DBR1 deficiency; HSE of the brainstem. Other viral infections of the brainstem; Defects in intrinsic and innate immunity |
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