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| Disorders of immune dysregulation v1.12 | PTPN2 | Zornitza Stark Marked gene: PTPN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.12 | PTPN2 | Zornitza Stark Gene: ptpn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.12 | PTPN2 | Zornitza Stark Phenotypes for gene: PTPN2 were changed from Evans syndrome; SLE to Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.11 | PTPN2 | Zornitza Stark Classified gene: PTPN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.11 | PTPN2 | Zornitza Stark Gene: ptpn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.10 | PTPN2 | Zornitza Stark reviewed gene: PTPN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.10 | PTPN2 |
Peter McNaughton gene: PTPN2 was added gene: PTPN2 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN2 were set to PMID: 39028869 Phenotypes for gene: PTPN2 were set to Evans syndrome; SLE Penetrance for gene: PTPN2 were set to Incomplete Review for gene: PTPN2 was set to GREEN Added comment: Six patients from six unrelated families variably associated with the development of SLE in one family and Evans syndrome in five families. Previously reported cases presented with common variable immunodeficiency and two others with inflammatory bowel disease. The molecular and functional analyses of PTPN2 variants demonstrated that defects in negative regulation of downstream cytokines promote autoimmune manifestations. Sources: Literature |
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