Autoinflammatory Disorders
Gene: TNFAIP3EnsemblGeneIds (GRCh38): ENSG00000118503
EnsemblGeneIds (GRCh37): ENSG00000118503
OMIM: 191163, Gene2Phenotype
TNFAIP3 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Familial Behcet-like autoinflammatory syndrome is an autosomal dominant disorder characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional more variable features include skin rash, uveitis, and polyarthritis. Symptoms become apparent in the first or second decades.
At least 6 unrelated families reported.Created: 25 Nov 2021, 1:33 a.m. | Last Modified: 25 Nov 2021, 1:33 a.m.
Panel Version: 0.121
Phenotypes
Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744
- OMIM
- 191163
- Clinvar variants
- Variants in TNFAIP3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tnfaip3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TNFAIP3 were changed from to Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TNFAIP3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TNFAIP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TNFAIP3 was added gene: TNFAIP3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TNFAIP3 was set to Unknown