Activity
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| Disorders of immune dysregulation v0.186 | NBEAL2 |
Peter McNaughton gene: NBEAL2 was added gene: NBEAL2 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: NBEAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBEAL2 were set to PMID: 37349339 Phenotypes for gene: NBEAL2 were set to Immune dysregulation Review for gene: NBEAL2 was set to GREEN Added comment: Patients with NBEAL2 deficiency present with ALPS-like disease with autoimmune manifestations including Evans syndrome, chill blain lupus, autoimmune thyroiditis, and/or antiplatelet autoantibodies. Functional data demonstrating that NBEAL2 affects CTLA4 expression regulation. Sources: Literature |
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| Disorders of immune dysregulation v0.89 | CTLA4 | Zornitza Stark Marked gene: CTLA4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.89 | CTLA4 | Zornitza Stark Gene: ctla4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.89 | CTLA4 | Zornitza Stark Phenotypes for gene: CTLA4 were changed from to Autoimmune lymphoproliferative syndrome, type V, MIM# 616100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.88 | CTLA4 | Zornitza Stark Publications for gene: CTLA4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.87 | CTLA4 | Zornitza Stark Mode of inheritance for gene: CTLA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.86 | CTLA4 | Zornitza Stark reviewed gene: CTLA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25213377, 25329329, 30377434; Phenotypes: Autoimmune lymphoproliferative syndrome, type V, MIM# 616100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.0 | CTLA4 |
Zornitza Stark gene: CTLA4 was added gene: CTLA4 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CTLA4 was set to Unknown |
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