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| Disorders of immune dysregulation v1.38 | Krithika Murali Copied gene TRAF3IP2 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.38 | TRAF3IP2 |
Krithika Murali gene: TRAF3IP2 was added gene: TRAF3IP2 was added to Disorders of immune dysregulation. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRAF3IP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAF3IP2 were set to 24120361; 31292894; 20660351; 34289170; 33825088; 33359359; 32350852; 31292894; 30237576; 28640246 Phenotypes for gene: TRAF3IP2 were set to Candidiasis, familial, 8, MIM# 615527 |
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| Disorders of immune dysregulation v1.38 | Krithika Murali Copied gene TRAF3IP2 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.38 | TRAF3IP2 |
Krithika Murali gene: TRAF3IP2 was added gene: TRAF3IP2 was added to Disorders of immune dysregulation. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRAF3IP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAF3IP2 were set to 24120361; 31292894; 20660351; 34289170; 33825088; 33359359; 32350852; 31292894; 30237576; 28640246 Phenotypes for gene: TRAF3IP2 were set to Candidiasis, familial, 8, MIM# 615527 |
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| Disorders of immune dysregulation v1.6 | TRAF3 | Zornitza Stark Phenotypes for gene: TRAF3 were changed from Autoinflammatory syndrome, TRAF3-related, MONDO:0019751; hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome to Immunodeficiency 132B, MIM# 621096 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.5 | TRAF3 | Zornitza Stark edited their review of gene: TRAF3: Changed phenotypes: Immunodeficiency 132B, MIM# 621096 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.157 | TRAF3 | Zornitza Stark Marked gene: TRAF3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.157 | TRAF3 | Zornitza Stark Gene: traf3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.157 | TRAF3 | Zornitza Stark Phenotypes for gene: TRAF3 were changed from hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome to Autoinflammatory syndrome, TRAF3-related, MONDO:0019751; hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.156 | TRAF3 | Zornitza Stark Classified gene: TRAF3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.156 | TRAF3 | Zornitza Stark Gene: traf3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.155 | TRAF3 | Zornitza Stark reviewed gene: TRAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, TRAF3-related, MONDO:0019751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.155 | TRAF3 |
Peter McNaughton gene: TRAF3 was added gene: TRAF3 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: TRAF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRAF3 were set to PMID: 35960817 Phenotypes for gene: TRAF3 were set to hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome Review for gene: TRAF3 was set to GREEN Added comment: Nine individuals from five unrelated families with childhood-onset immune diseases and recurrent infections. All patients had suffered recurrent ear and sinopulmonary infections, including pneumonias from encapsulated bacteria Streptococcus pneumoniae and Haemophilus influenza, resulting in early-onset bronchiectasis in several individuals Sources: Literature |
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