Table 2.

Genes associated to one of the most specific phenotypic features in COG‐CDG, episodic fever (HP:0001954)

Gene	Gene name	Disease name	OMIMa	Protein function	Autophagy associatedb	Protein effect on autophagy
ELP1	Elongator complex protein 1	Neuropathy, hereditary sensory and autonomic, type III	#223900	Inflammation induction	No
PSMB8	Proteasome subunit beta 8	Autoinflammation, lipodystrophy and dermatosis syndrome	#256040		No
STXBP2	Syntaxin binding protein 2	Familial hemophagocytic lymphohistiocytosis V	#613101		No
MVK	Mevalonate kinase	Mevalonic aciduria	#610377	Inflammation control	Yes15	Impaired RhoA transloc.
MEFV	MEFV, pyrin innate immunity regulator	Familial Mediterranean fever	#249100		Yes15, 16	No NLRP3 degradation
NLRP3	NLR family pyrin domain containing 3	Familial cold autoinflammatory syndrome I	#120100		No
NLRP12	NLR family pyrin domain containing 12	Familial cold autoinflammatory syndrome II	#611762		No
CRLF1	Cytokine receptor like factor 1	Cold‐induced sweating syndrome I	#272430	Cytokine response	No
LIFR	LIF receptor alpha	Stuve‐Wiedemann syndrome	#601559		No
SLC29A3	Solute carrier family 29 member 3	Histiocytosis‐lymphadenopathy plus syndrome	#602782		No
TNFAIP3	TNF alpha induced protein 3	Familial autoinflammatory syndrome, Behcet‐like	#616744		Yes17	mTORC1 inactivation
TNFRSF1A	TNF receptor superfamily member 1A	Familial periodic fever, autosomal dominant	#142680		Yes17	No NF‐κB pathway act.
GALC	Galactosylceramidase	Krabbe disease	#245200	Second messenger	Yes18, 19	LC3‐II overexpression
NGF	Nerve growth factor	Neuropathy, hereditary sensory and autonomic, type V	#608654	Neuronal cell growth	Yes20	PI3K signalling
NTRK1	Neurotrophic receptor tyrosine kinase 1	Congenital insensitivity to pain, with anhidrosis	#256800		Yes21	PI3K signalling
PTS	6‐Pyruvoyltetrahydropterin synthase	BH4‐deficient hyperphenyl. type A	#261640	Tetrahydrobiopterin synthesis	Yes22	mTORC1 inactivation
GCH1	GTP cyclohydrolase 1	BH4‐deficient hyperphenyl. type B	#233910		Yes23	mTORC1 inactivation
QDPR	Quinoid dihydropteridine reductase	BH4‐deficient hyperphenyl. type C	#261630		Yes23	mTORC1 inactivation
ORAI1	ORAI calcium release‐activated calcium modulator 1	Immunodeficiency 9	#612782	Calcium signalling	Yes24	mTORC1 inactivation
STIM1	Stromal interaction molecule 1	Immunodeficiency 10	#612783		Yes24	mTORC1 inactivation
LPIN2	Lipin 2	Majeed syndrome	#609628	Adipose tissue metabolism	No
CYP11B2	Cytochrome P450 family 11 subfamily b member 2	Corticosterone methyloxidase type I deficiency	#203400	Aldosterone synthesis	No

^aOMIM, online inheritance in man phenotype number.

^bRef. 12.