Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: TNFAIP3

Green List (high evidence)

TNFAIP3 (TNF alpha induced protein 3)
EnsemblGeneIds (GRCh38): ENSG00000118503
EnsemblGeneIds (GRCh37): ENSG00000118503
OMIM: 191163, Gene2Phenotype
TNFAIP3 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.

Also reports of association with IBD in at least 4 individuals.
Created: 25 Nov 2021, 1:37 a.m. | Last Modified: 25 Nov 2021, 1:37 a.m.
Panel Version: 0.9862

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744; Inflammatory bowel disease

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744
  • Inflammatory bowel disease
OMIM
191163
Clinvar variants
Variants in TNFAIP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfaip3 has been classified as Green List (High Evidence).

25 Nov 2021, Gel status: 3

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; Inflammatory bowel disease

25 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNFAIP3 were set to

25 Nov 2021, Gel status: 3

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

17 Nov 2019, Gel status: 3

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TNFAIP3 was set to Unknown