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Newborns main panel

Gene: TNFAIP3

Amber List (moderate evidence)
TNFAIP3 (TNF alpha induced protein 3)
EnsemblGeneIds (GRCh38): ENSG00000118503
EnsemblGeneIds (GRCh37): ENSG00000118503
OMIM: 191163, Gene2Phenotype
TNFAIP3 is in 5 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 31587140 - 26 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Familial Behcet-like autoinflammatory syndrome-1
OMIM
191163
Clinvar variants
Variants in TNFAIP3
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to TNFAIP3. Added phenotypes Familial Behcet-like autoinflammatory syndrome-1 for gene: TNFAIP3 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to TNFAIP3. Added phenotypes Familial Behcet-like autoinflammatory syndrome-1 for gene: TNFAIP3 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to TNFAIP3. Added phenotypes Familial Behcet-like autoinflammatory syndrome-1 for gene: TNFAIP3 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to TNFAIP3. Added phenotypes Familial Behcet-like autoinflammatory syndrome-1 for gene: TNFAIP3 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Familial Behcet-like autoinflammatory syndrome-1 for gene: TNFAIP3

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: TNFAIP3 was added gene: TNFAIP3 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown