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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | DBR1 | Arina Puzriakova Tag for-review was removed from gene: DBR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | DBR1 | Arina Puzriakova commented on gene: DBR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 | DBR1 |
Arina Puzriakova Source Expert Review Green was added to DBR1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.349 | DBR1 | Arina Puzriakova Classified gene: DBR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.349 | DBR1 | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.349 | DBR1 | Arina Puzriakova Gene: dbr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.348 | DBR1 | Arina Puzriakova Tag for-review tag was added to gene: DBR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.132 | DBR1 | Catherine Snow Classified gene: DBR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.132 | DBR1 | Catherine Snow Added comment: Comment on list classification: DBR1 identified by expert review. DBR1 variants identified in unrelated patients from different ethnicities, each had brainstem infection due to herpes simplex virus 1 (HSV1), influenza virus, or norovirus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.132 | DBR1 | Catherine Snow Gene: dbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 | DBR1 | Zornitza Stark reviewed gene: DBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29474921; Phenotypes: Viral infections of the brainstem; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 | DBR1 |
Louise Daugherty gene: DBR1 was added gene: DBR1 was added to Primary immunodeficiency. 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; Defects in intrinsic and innate immunity; HSE of the brainstem. Other viral infections of the brainstem |
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