Table 1

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

				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.