Table 1. Target genes included in the panel.

Gene	Locus	Ref sequence	MIM	Exons	Gene	Locus	Ref sequence	MIM	Exons
AARS	16q22	NM_001605.2	601065	21	KIF1B	1p36.2	NM_015074.3	605995	47
ATL1	14q22.1	NM_015915.4	606439	14	KIF5A	12q13.13	NM_004984.2	602821	29
ATL3	11q13.1	NM_015459.4	609369	13	LITAF	16p13.13	NM_004862.3	603795	4
BSCL2	11q13	NM_032667.6	606158	11	LRSAM1	9q33.3	NM_138361.5	610933	25
DCTN1	2p13	NM_004082.4	601143	32	MARS	12q13.3	NM_004990.3	156560	21
DHTKD1	10p14	NM_018706.6	614984	17	MFN2	1p36.22	NM_014874.3	608507	19
DNM2	19p13.2	NM_001005361.2	602378	21	MPZ	1q23.3	NM_000530.7	159440	6
DNMT1	19p13.2	NM_001130823.2	126375	41	NAGLU	17q21	NM_000263.3	609701	6
DYNC1H1	14q32	NM_001376.4	600112	78	NEFL	8p21	NM_006158.4	162280	4
EGR2	10q21.1	NM_000399.3	129010	2	PDK3	Xp22.11	NM_001142386.2	300906	12
GARS	7p15	NM_002047.3	600287	17	PMP22	17p12	NM_000304.3	601097	5
GDAP1	8q21.11	NM_018972.2	606598	6	RAB7	3q21.3	NM_004637.5	602298	6
GJB1	Xq13.1	NM_001097642.2	304040	2	SCN11A	3p22.2	NM_001287223.1	604385	26
GNB4	3q26.33	NM_021629.3	610863	10	SEPT9	17q25	NM_001113493.1	604061	11
HARS	5q31.3	NM_001289094.1	142810	13	SLC5A7	2q12	NM_001305005.2	608761	9
HOXD10	2q31.1	NM_002148.3	142984	2	SOX10	22q13.1	NM_006941.3	602229	4
HSPB1	7q11.23	NM_001540.3	602195	3	SPTLC1	9q22.2	NM_001281303.1	605712	15
HSPB3	5q11.2	NM_006308.2	604624	1	SPTLC2	14q24.3	NM_004863.3	605713	12
HSPB8	12q24.23	NM_014365.2	608014	3	TFG	3q12.2	NM_001195478.1	602498	8
IFRD1	7q31.1	NM_001550.3	603502	12	TRPV4	12q24.1	NM_021625.4	605427	16
INF2	14q32.33	NM_001031714.3	610982	22	VCP	9p13.3	NM_007126.3	601023	17
KARS	16q23.1	NM_001130089.1	601421	15	YARS	1p35.1	NM_003680.3	608323	13

Abbreviations: MIM = Mendelian Inheritance in Man.