Disorders of immune dysregulation
Gene: TRAF3EnsemblGeneIds (GRCh38): ENSG00000131323
EnsemblGeneIds (GRCh37): ENSG00000131323
OMIM: 601896, Gene2Phenotype
TRAF3 is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammatory syndrome, TRAF3-related, MONDO:0019751
Peter McNaughton (Queensland Children's Hospital)
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: LiteratureCreated: 4 Oct 2022, 5:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome
Publications
- PMID: 35960817
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Autoinflammatory syndrome, TRAF3-related, MONDO:0019751
- hypergammaglobulinemia
- lymphadenopathy
- splenomegaly, Sjögren’s syndrome
- OMIM
- 601896
- Clinvar variants
- Variants in TRAF3
- Penetrance
- None
- Publications
-
- PMID: 35960817
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: traf3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: traf3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)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