| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Autoimmune Lymphoproliferative Syndrome v0.22 | CTLA4 | Ain Roesley Marked gene: CTLA4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.22 | CTLA4 | Ain Roesley Gene: ctla4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.22 | CTLA4 | Ain Roesley Classified gene: CTLA4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.22 | CTLA4 | Ain Roesley Gene: ctla4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.21 | CTLA4 |
Ain Roesley gene: CTLA4 was added gene: CTLA4 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTLA4 were set to 39060684; 38302222 Phenotypes for gene: CTLA4 were set to Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100; autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493 Review for gene: CTLA4 was set to GREEN gene: CTLA4 was marked as current diagnostic Added comment: PMID: 39060684; 3x individuals. 1x missense, 1x splice 1x PTC PMID:38302222; 9x in Center for Chronic Immunodeficiency in Freiburg, Germany database Sources: Literature |
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