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| 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 v0.40 | POLE2 |
Ellen McDonagh Source Expert Review Green was added to POLE2. Added phenotypes Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism); Combined immunodeficiencies with associated or syndromic features; Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism for gene: POLE2 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| COVID-19 research v0.40 | POLE |
Ellen McDonagh Source Expert Review Green was added to POLE. Added phenotypes Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature; Combined immunodeficiencies with associated or syndromic features; FILS syndrome 615139; Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome) for gene: POLE Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| COVID-19 research v0.36 | POLE2 |
Ellen McDonagh gene: POLE2 was added gene: POLE2 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: POLE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE2 were set to 32086639; 32048120 Phenotypes for gene: POLE2 were set to Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism); Combined immunodeficiencies with associated or syndromic features; Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism |
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| COVID-19 research v0.36 | POLE |
Ellen McDonagh gene: POLE was added gene: POLE was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 23230001 Phenotypes for gene: POLE were set to Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature; Combined immunodeficiencies with associated or syndromic features; FILS syndrome 615139; Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome) |
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