Periodic fever syndromesGene: TNFAIP3
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Autoinflammatory syndrome, familial, Behcet-like; (AISBL) (616744)
Phenotypes for gene: TNFAIP3 were changed from Autoinflammatory syndrome, familial, Behcet-like; (AISBL) (616744) to Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for TNFAIP3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TNFAIP3 was created by osiggs
TNFAIP3 was added to Periodic fever syndromespanel. Sources: Literature