Activity
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14 actions
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.37 | GTF3A | Achchuthan Shanmugasundram Classified gene: GTF3A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.37 | GTF3A | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is one family reported with immunodeficiency and biallelic GTF3A variants, and functional evidenced available in support of the association. Hence, this gene can be rated amber with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.37 | GTF3A | Achchuthan Shanmugasundram Gene: gtf3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.36 | GTF3A | Achchuthan Shanmugasundram Phenotypes for gene: GTF3A were changed from CVID with HSV encephalitis to common variable immunodeficiency, MONDO:001551 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.35 | GTF3A | Achchuthan Shanmugasundram Publications for gene: GTF3A were set to PMID: 36399538 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.34 | GTF3A | Achchuthan Shanmugasundram reviewed gene: GTF3A: Rating: AMBER; Mode of pathogenicity: None; Publications: 36399538; Phenotypes: common variable immunodeficiency, MONDO:0015517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.34 | GTF3AP5 | Achchuthan Shanmugasundram Classified gene: GTF3AP5 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.34 | GTF3AP5 | Achchuthan Shanmugasundram Added comment: Comment on list classification: PMID:36399538 reports the association of GTF3A to immunodeficiency rather than GTF3AP5. Hence, the reviewer removed their review. This gene is therefore rated grey on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.34 | GTF3AP5 | Achchuthan Shanmugasundram Gene: gtf3ap5 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.33 | GTF3AP5 | Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: GTF3AP5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.33 | GTF3AP5 | Achchuthan Shanmugasundram Classified gene: GTF3AP5 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.33 | GTF3AP5 | Achchuthan Shanmugasundram Gene: gtf3ap5 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 | GTF3A |
Dmitrijs Rots gene: GTF3A was added gene: GTF3A was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: GTF3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF3A were set to PMID: 36399538 Phenotypes for gene: GTF3A were set to CVID with HSV encephalitis Review for gene: GTF3A was set to AMBER Added comment: PMID: 36399538 describe a case with CVID and HSV encephalitis with functional work. More cases are presented at ESID 2024 (unpublished yet). Sources: Literature |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 | GTF3AP5 |
Dmitrijs Rots gene: GTF3AP5 was added gene: GTF3AP5 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: GTF3AP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF3AP5 were set to PMID: 36399538 Phenotypes for gene: GTF3AP5 were set to PID Review for gene: GTF3AP5 was set to AMBER Added comment: PMID: 36399538 describe a case with CVID and HSV encephalitis with functional work. More cases are presented at ESID 2024 (unpublished yet). Sources: Literature |
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