Activity
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13 actions
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| Autoinflammatory disorders v2.34 | TBK1 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: TBK1. Tag Q2_25_ NHS_review was removed from gene: TBK1. |
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| Autoinflammatory disorders v2.34 | TBK1 | Achchuthan Shanmugasundram commented on gene: TBK1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.33 | TBK1 |
Achchuthan Shanmugasundram Source NHS GMS was added to TBK1. Source Expert Review Green was added to TBK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Autoinflammatory disorders v2.24 | TBK1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (three unrelated families and functional evidence) for the association of biallelic TBK1 variants with autoinflammatory disorder. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Dorota Rowczenio, there is sufficient evidence available (three unrelated families and functional evidence) for the association of biallelic TBK1 variants with autoinflammatory disorder. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.24 | TBK1 |
Achchuthan Shanmugasundram changed review comment from: PMID:34363755 reported the identification of homozygous loss-of-function variants in TBK1 gene in four patients from three unrelated families. All of them presented with chronic and systemic autoinflammation, but not severe viral infections. Supporting functional evidence is also available. This gene has already been associated with relevant phenotypes in OMIM (MIM #620880).; to: PMID:34363755 reported the identification of three different homozygous loss-of-function variants in TBK1 gene in four patients from three unrelated families. All of them presented with chronic and systemic autoinflammation, but not severe viral infections. Supporting functional evidence is also available. This gene has already been associated with relevant phenotypes in OMIM (MIM #620880). |
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| Autoinflammatory disorders v2.24 | TBK1 | Achchuthan Shanmugasundram Classified gene: TBK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.24 | TBK1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families and functional evidence) for the association of biallelic TBK1 variants with autoinflammatory disorder. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.24 | TBK1 | Achchuthan Shanmugasundram Gene: tbk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.23 | TBK1 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: TBK1. Tag Q2_25_ NHS_review tag was added to gene: TBK1. |
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| Autoinflammatory disorders v2.23 | TBK1 | Achchuthan Shanmugasundram Phenotypes for gene: TBK1 were changed from chronic and systemic autoinflammation driven by TNF-induced cell death to Autoinflammation with arthritis and vasculitis, OMIM:620880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.22 | TBK1 | Achchuthan Shanmugasundram Publications for gene: TBK1 were set to PMID: 34363755; PMID: 34210994; PMID: 28148298; PMID: 34363755 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.21 | TBK1 | Achchuthan Shanmugasundram reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34363755; Phenotypes: Autoinflammation with arthritis and vasculitis, OMIM:620880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.5 | TBK1 |
Dorota Rowczenio gene: TBK1 was added gene: TBK1 was added to Autoinflammatory disorders. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: TBK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBK1 were set to PMID: 34363755; PMID: 34210994; PMID: 28148298; PMID: 34363755 Phenotypes for gene: TBK1 were set to chronic and systemic autoinflammation driven by TNF-induced cell death Review for gene: TBK1 was set to GREEN Added comment: Sources: Expert list, Expert Review, Literature |
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