Table 1

Recommendations for the screening and interpretation of sequence variants for the genetic diagnosis of HRFs

DiseaseGeneReference sequence/LRGSequence variants1234567891011
Categoryp.E148Q, p.E167D, p.T267I, p.R202Qp.P369S, p.R408Qp.F479Lp.I591Tp.M680I, p.M694V, p.M694I, p.V726A, p.A744S, p.R761H, p.I692del, p.K695R
Categoryp.H20Pp.S52Np.I268T, p.S272Fp.V377I
Categoryp.C59R (C30R), p.C62Y (C33Y)p.D71del (D42del), p.T79M (T50M), p.C81Y (C52Y), p.C84Y (C55Y), p.C102W (C73W), p.P75L (P46L)p.R121Q (R92Q)
CAPSNLRP3NM_001243133.1 or NM_004895.4 /LRG_197Screening*X
Categoryp.R260W, p.D303N, p.L305P, p.E311K, p.T348M, p.L353P, p.A439V, p.V198M, pQ703K
  • A complete list of HRF gene variants is available in Infevers, the registry of autoinflammatory mutations:

  • The latest reference sequence should be used. LRG, locus reference genomic sequences.

  • * In bold: minimum set of exons recommended to screen; in grey, other exons most commonly screened for routine diagnosis of HRFs.

  • In bold and normal letters: minimum set of clearly pathogenic sequence variants recommended to screen; in bold and italics: example of rare clearly pathogenic sequence variants suggested to be screened; in normal letters: sequence variants of uncertain significance; in italics and greyed examples of common single-nucleotide polymorphisms not to be reported; in parentheses: common names of TNFRSF1A mutations.

  • CAPS, cryopyrin-associated periodic syndrome; FMF, familial Mediterranean fever; HRFs, hereditary recurrent fevers; MKD, mevalonate kinase deficiency;

  • TRAPS, tumour necrosis factor receptor-associated periodic syndrome.