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  3. TNFAIP3
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Inflammatory bowel disease

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

Lavvina Thiyagarajan (Sydney Children's Hospital Network)

Green List (high evidence)

4 unrelated individuals with inflammatory bowel disease and variants TNFAIP3 - haploinsufficiency suggested as disease mechanism.
Sources: Literature
Created: 24 Nov 2021, 12:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Inflammatory bowel disease; Crohn's disease; Autoinflammatory syndrome, familial, Behcet-like

Publications

Created: 24 Nov 2021, 12:03 p.m.

Panel version: 0.61

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Inflammatory bowel disease
  • Crohn's disease
  • Autoinflammatory syndrome, familial, Behcet-like
OMIM
191163
Clinvar variants
Variants in TNFAIP3
Penetrance
unknown
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 publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNFAIP3 were set to 34030699, 33446651, 32521965, 31299923

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).

24 Nov 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Lavvina Thiyagarajan (Sydney Children's Hospital Network)

gene: TNFAIP3 was added gene: TNFAIP3 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNFAIP3 were set to 34030699, 33446651, 32521965, 31299923 Phenotypes for gene: TNFAIP3 were set to Inflammatory bowel disease; Crohn's disease; Autoinflammatory syndrome, familial, Behcet-like Penetrance for gene: TNFAIP3 were set to unknown Review for gene: TNFAIP3 was set to GREEN