Exons | ||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Disease | Gene | Reference sequence/LRG | Sequence variants | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 |
FMF | MEFV | NM_000243.2/LRG_190 | Screening* | X | X | X | X | |||||||
Category† | p.E148Q, p.E167D, p.T267I, p.R202Q | p.P369S, p.R408Q | p.F479L | p.I591T | p.M680I, p.M694V, p.M694I, p.V726A, p.A744S, p.R761H, p.I692del, p.K695R | |||||||||
MKD | MVK | NM_000431.2/LRG_156 | Screening* | X | X | X | X | X | X | X | X | X | X | |
Category† | p.H20P | p.S52N | p.I268T, p.S272F | p.V377I | ||||||||||
TRAPS | TNFRSF1A | NM_001065.3/LRG_193 | Screening* | X | X | X | ||||||||
Category† | p.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) | |||||||||||
CAPS | NLRP3 | NM_001243133.1 or NM_004895.4 /LRG_197 | Screening* | X | ||||||||||
Category† | p.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: http://fmf.igh.cnrs.fr/ISSAID/infevers/.
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.