Table 2. Genotype–phenotype correlation.

Gene	Protein	Protein domain(s)	Function (s)	Disorder(s)
Cx32/GJB1	Connexin 32	Connexin	Gap-junction formation	CMTX
DNM2	Dynamin 2	GTPase	Cellular fusion–fission	DI-CMT
EGR2	Early growth response protein 2	C2H2-type zinc finger	Transcription factor, cell proliferation	CMT1, CHN, DSN
FGD4	FRABIN	RhoGEF	Rho GDP/GTP exchange factor, actin cytoskeleton	CMT, DSN
FIG4	FIG4	PtdIns(3,5)P2 5-phosphatase	Late endosome–lysosome	CMT, DSN
GARS	Glycyl-tRNA synthetase	WHEP-TRS, core catalytic domain, anticodon-binding domain	Aminoacyl-tRNA synthesis	CMT2, dSMA V
GDAP1	Ganglioside-induced differentiation protein 1	Glutathione S-transferase	Mitochondrial fission	CMT2, CMT4A
HSPB1/HSP27	Heat-shock protein B1	α-Crystallin	ATP-independent chaperone, prevents aggregation, role in refolding	CMT2F Distal motor neuropathy
HSPB8/HSP22	Heat-shock protein B8	α-Crystallin	Protein kinase/chaperone	Distal motor neuropathy, CMT1
SH3TC2	SH3TC2	Src homology 3 domains, tetratricopeptide repeat domain	Adapter/docking protein	CMT4C
LMNA	Lamin A	Intermediate filament, type-V ATPase	Nuclear envelope structure	CMT2
MFN2	Mitofusin		Mitochondrial fusion	CMT2
MPZ	Myelin protein zero	Immunoglobulin V-type, immunoglobulin C-type	Myelin structural protein, homophilic adhesion	CMT1, DSN, CMT2, CHN, RLS
MTMR2	Myotubularin-related protein 2	GRAM, protein tyrosine phosphatase (catalytic), domain in glycosyltransferase, myotubularin and membrane-associated protein	Protein tyrosine phosphatase, dual specificity phosphatase (PI3 phosphatase)	CMT4B, CHN
NDRG1	NDRG1 protein	α/β Hydrolase fold	Growth arrest/cell differentiation	HMSN-L
NEFL	Neurofilament triplet L protein	Neurofilament, intermediate filament, myosin, hemagglutinin	Neurofilament organization and regulation	CMT2, CMT1, DSN
PMP22	Peripheral myelin protein 22	PMP-22/EMP/MP20/Claudin	Myelin structure/growth arrest	CMT1, HNPP, DSN, CHN, RLS
PRX	Periaxin	PSD-95, Dlg, ZO-1/2 (PDZ)	Cytoskeletal, extracellular signaling	DSN, CMT4F
RAB7	Ras-related protein Rab-7	GTPase	Vesicle transport	CMT2
SBF2/MTMR13	SET binding factor 2	GRAM, SID, PH	Signaling	CMT4B2
SIMPLE/LITAF	SIMPLE	RING-finger motif	Transcription factor, ubiquitin ligase?	CMT1, CMT2
TDP1	Tyrosyl-DNA phosphodiesterase 1	α-Amylase	DNA replication, hydrolysis of DNA–protein bond	CMT2
YARS	Tyrosyl-tRNA synthetase	Tyrosinyl-tRNA synthetase (TyrRS) catalytic core and tRNA-binding domains	Protein synthesis	DI-CMT