Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

Table 3 Diagnostic yield for each phenotypic group, mode of inheritance and gene

Phenotype	Inheritance	Gene	Patients
CMT1	AD	MPZ	5
		NEFL	3
		LITAF	3
		GDAP1	3
		MFN2	2
		*AARS*	1
		PMP22	1
	X-L	GJB1	3
	X-L	*ATP7A*	1
	AR	*SH3TC2*	10
		IGHMBP2 ^a	4
		*SBF2*	2
		*FIG4*	2
		*FGD4*	1
Tested	101	Diagnosed	41
CMT2	AD	MFN2	8
		BSCL2	5
		DYNC1H1 ^b	4
		GDAP1	3
		HSPB1	3
		PMP22	3
		*SPTLC2*	2
		NEFL	2
		SCN9A ^a	2
		*GARS*	2
		RAB7A	2
		TRPV4	1
		*SH3TC2*	1
		*DNM2*	1
		MPZ	1
	X-L	GJB1	6
	AR	IGHMBP2 ^a	4
		GDAP1	2
		*FIG4*	1
		*SLC12A6*	1
Tested	152	Diagnosed	54
HMN	AD	DYNC1H1 ^b	5
		*GARS*	4
		HSPB1	3
		*REEP1*	2
		MFN2	2
		SPTLC1	1
		*DNM2*	1
		PMP22	1
		*DCTN1*	1
		NEFL	1
		LMNA ^a	1
	AR	IGHMBP2 ^a	2
tested	91	Diagnosed	24
HSN	AD	*SPTLC2*	1
		*AARS*	1
		PMP22	1
		RAB7A	1
	AR	*MED25*	1
Tested	25	Diagnosed	5
Mixed	AD	*AARS*	5
	AD	MPZ	1
	X-L	GJB1	2
Tested	22	Diagnosed	8
Complex	AD	DYNC1H1 ^b	1
		*SEPT9*	1
		*SH3TC2*	1
	AR	SCN9A ^a	1
	AR	*GAN*	1
Tested	57	Diagnosed	5
Overall total	448	Diagnosed	137

Highlighted bold: gene not previously available for routine diagnostic testing in UK
^aGene not previously requested for IPN
^bOnly part of the gene was previously available for testing

ISSN: 1471-2350