Activity
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9 actions
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| 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 | GTF3AP5 | Dmitrijs Rots Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 | GTF3AP5 | Dmitrijs Rots Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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