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| Disorders of immune dysregulation v0.188 | NBEAL2 | Zornitza Stark Marked gene: NBEAL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.188 | NBEAL2 | Zornitza Stark Gene: nbeal2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.188 | NBEAL2 | Zornitza Stark Phenotypes for gene: NBEAL2 were changed from Immune dysregulation to Gray platelet syndrome, MIM# 139090; Immune dysregulation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.187 | NBEAL2 | Zornitza Stark Classified gene: NBEAL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.187 | NBEAL2 | Zornitza Stark Gene: nbeal2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.186 | NBEAL2 | Zornitza Stark reviewed gene: NBEAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gray platelet syndrome, MIM# 139090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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