Periodic fever syndromes

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

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Changed rating from Grey to Amber. Gene added and rated green by Owen Siggs. Sufficient (>3) cases of TNFAIP3 variants causing MIM:616744 from PMID:26642243 (Zhou et al., 2016) but only 2 of the patients (both from the same family) are reported with periodic fever. No associated disease currently recorded in DD-G2P.
Created: 15 Aug 2017, 12:56 p.m.
PMID:26642243 (Zhou et al., 2016) reported 14 patients from 6 unrelated families with an autosomal dominant autoinflammatory disorder (MIM:616744). They identified 6 different heterozygous truncating mutations in the TNFAIP3 gene. 2 patients (both from family 2) had periodic fevers (see Supplementary table 2 in PMID:26642243).
Created: 15 Aug 2017, 12:55 p.m.
Comment on mode of inheritance: Monoallelic MOI supported by OMIM.
Created: 15 Aug 2017, 12:40 p.m.

Owen Siggs (Flinders University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Autoinflammatory syndrome, familial, Behcet-like; (AISBL) (616744)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Autoinflammatory syndrome, familial, Behcet-like
  • (AISBL) (616744)
OMIM
191163
Clinvar variants
Variants in TNFAIP3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

15 Aug 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for TNFAIP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 May 2017, Gel status: 0

Created

Owen Siggs (Flinders University)

TNFAIP3 was created by osiggs

16 May 2017, Gel status: 0

Added New Source

Owen Siggs (Flinders University)

TNFAIP3 was added to Periodic fever syndromespanel. Sources: Literature