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

Antoniadi, Thalia; Buxton, Chris; Dennis, Gemma; Forrester, Natalie; Smith, Debbie; Lunt, Peter; Burton-Jones, Sarah

doi:10.1186/s12881-015-0224-8

Table 1 Genes included in IPN NGS panel, with associated phenotype and inheritance pattern

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

GENE	OMIM	Locus	CMT1	CMT2	HMN	HS(A)N	OMIM	Inheritance
AARS	601065	16q22		CMT 2N			613287	AD
ARHGEF10	608136	8p23	Slowed NCV; hypomyelination				608236	AD
ATL1	606439	14q11-q21				HSN 1D	613708	AD
ATP7A	300011	Xq12-q13			dSMAX3		300489	XL
BAG3	603883	10q26.11	Myopathy; myofibrillar, BAG-3 related				612954	AD
BSCL2	606158	11q12.3			HMN 5		600794	AD
CCT5	610150	5p15.2				HSN with spastic paraplegia	256840	AR
CTDP1	604927	18q23	CCFDN: Congenital cataracts, facial dysmorphism, neuropathy				604168	AR
DCTN1	601143	2p13.1			HMN 7B		607641	AD
DNM2	602378	19p13.2		CMT DI B			606482	AD
DNM2	602378	19p13.2		CMT 2 M			606482	AD
DYNC1H1	600112	14q32.31		CMT 2O	SMA-LED		614228/158600	AD
EGR2	129010	10q21.1-q22.1	CMT 1D				607678	AD
			CMT 4E CHN				605253	AD
			DSS				145900	AR
FAM134B	613114	5p15.1				HSAN 2B	613115	AR
FGD4	611104	12p11.21	CMT 4H				609311	AR
FIG4	609390	6q21	CMT 4J				611228	AR
GAN	605379	16q23.2	Giant Axonal Neuropathy 1				256850	AR
GARS	600287	21q22.11		CMT 2D	HMN 5		601472/600794	AD
GDAP1	606598	8q21	CMTA RI				608340	AR
			CMT 4A				214400	AR
				CMT 2H			607706	AR
				CMT 2K			607831	AD
GJB1	304040	Xq13.1	CMT X1				302800	XL
HOXD10	142984	2q31.1	HMSN with Congenital vertical talus				192950	AD
HSPB1	602195	7q11		CMT 2F	HMN 2B		606595/608634	AD
HSPB3	604624	5q11.2			HMN 2C		613376	AD
HSPB8	608014	12q24		CMT 2L	HMN 2A		608673/158590	AD
IGHMBP2	600502	11q13.3			HMN 6		604320	AR
IKBKAP	603722	9q31.3				HSAN 3	223900	AR
KARS	601421	16q23.1	CMT RI B				613641	AR
KIF1B	605995	1p36.22		CMT 2A1			118210	AD
LITAF	603795	16p13.3-p12	CMT 1C				601098	AD
LMNA	150330	1q22		CMT 2B1			605588	AR
LRSAM1	610933	9q33.3		CMT 2P			614436	AD/AR
MED25	610197	19q33.13		CMT 2B2			605589	AR
MFN2	608507	1p35-36		CMT 2A2			609260	AD
MFN2	608507	1p35-36		HMSN6			601152	AD
MPZ	159440	1q22	CMT 1B				118220	AD
			CHN				605253
			CMT DI D				607791
				CMT 2I			607677
				CMT 2J			607736
MTMR2	603557	11q21	CMT 4B1				601382	AR
NDRG1	605262	8q24.22	CMT 4D				601455	AR
NEFL	162280	8p21	CMT 1F	CMT 2E			607734/607684	AD
NGFB	162030	1q13.2				HSAN 5, absence of pain	608654	AR
NTRK1	191315	1q23.1				HSAN 4; anhidrosis, insensitivity to pain	256800	AR
PLEKHG5	611101	1p36.31	CMT RIC		dSMA 4		615376/611067	AR
PMP22	601097	17p11.2	CMT 1A				118220	AD
			HNPP				162500	AD
			CMT 1E				118300	AD
			DSS				145900	AR
PRPS1	311850	Xq22.3	CMT X5				311070	XL D/R
PRX	605725	19q13.1-q13.2	CMT 4F/DSS				145900	AR
RAB7A	602298	3q21.3		CMT 2B		HSN	600882	AD
REEP1	609139	2p11.2			HMN5B		614751	AD
SBF2	607697	11p15.4	CMT 4B2				604563	AR
SCN9A	603415	2q24.3	Absence of pain				243000	AR
SCN9A	603415	2q24.3	Small fibre neuropathy				133020	AD
SEPT9	604061	17q25.2-q25.3	Hereditary neuralgic amyotrophy, HNS, HNA & dysmorphic features				162100	AD
SH3TC2	608206	5q32	CMT 4C				601596	AR
SLC12A6	604878	15q14	PN with agenesis of the corpus callosum				218000	AR
SOX10	602229	22q13.1	PCWH syndrome				609136	AD
SPTLC1	605712	9q22.1-q22.3				HSAN 1	162400	AD
SPTLC2	605713	14q24.3				HSAN 1C	613640	AD
TDP1	607198	14q32.11	Spinocerebellar ataxia, with axonal neuropathy				607250	AR
TRPV4	605427	12q24.1		CMT 2C			606071	AD
WNK1	605232	12p13.33				HSAN 2A	201300	AR
YARS	603623	1p13.1	CMT DI C				608323	AD

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ISSN: 1471-2350

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