Activity
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17 actions
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| Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 | TNFRSF9 | Arina Puzriakova Phenotypes for gene: TNFRSF9 were changed from CD137 deficiency (41BB); EBV lymphoproliferation, B-cell lymphoma to Immunodeficiency 109 with lymphoproliferation, OMIM:620282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.49 | TNFRSF9 | Arina Puzriakova Tag gene-checked was removed from gene: TNFRSF9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 | TNFRSF9 | Catherine Snow Tag gene-checked tag was added to gene: TNFRSF9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | TNFRSF9 | Arina Puzriakova Tag for-review was removed from gene: TNFRSF9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | TNFRSF9 | Arina Puzriakova commented on gene: TNFRSF9: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 | TNFRSF9 |
Arina Puzriakova Source Expert Review Green was added to TNFRSF9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.361 | TNFRSF9 | Arina Puzriakova Classified gene: TNFRSF9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.361 | TNFRSF9 | 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 v2.361 | TNFRSF9 | Arina Puzriakova Gene: tnfrsf9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.360 | TNFRSF9 | Arina Puzriakova Tag for-review tag was added to gene: TNFRSF9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.75 | TNFRSF9 | Ivone Leong Classified gene: TNFRSF9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.75 | TNFRSF9 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review and evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.75 | TNFRSF9 | Ivone Leong Gene: tnfrsf9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 | TNFRSF9 | Zornitza Stark reviewed gene: TNFRSF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30872117, 31501153; Phenotypes: EBV lymphoproliferation, B-cell lymphoma, Chronic active EBV infection; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 | TNFRSF9 | Louise Daugherty reviewed gene: TNFRSF9: Rating: AMBER; Mode of pathogenicity: ; Publications: 31537641, 30872117, 31501153; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 | TNFRSF9 | Louise Daugherty Publications for gene TNFRSF9 were updated from 32048120; 32086639 to 30872117; 32086639; 31537641; 31501153; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.13 | TNFRSF9 |
Louise Daugherty gene: TNFRSF9 was added gene: TNFRSF9 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF9 were set to 32048120; 32086639 Phenotypes for gene: TNFRSF9 were set to CD137 deficiency (41BB); EBV lymphoproliferation, B-cell lymphoma |
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