Genetic forms of hereditary spastic paraplegia

Designation	Locus	Gene	Predominant phenotype	Inheritance	OMIM number
SPG1	Xq28	L1CAM	Complicated	X-linked	303350
SPG2	Xq22.2	PLP1	Complicated	X-linked	312920
SPG3A	14q22.1	ATL1	Pure	AD	182600
SPG4	2p22.3	SPAST	Pure	AD	182601
SPG5A	8q12.3	CYP7B1	Pure	AR	270800
SPG6	15q11.2	NIPA1	Pure	AD	600363
SPG7	16q24	SPG7	Pure or complicated	AR and AD	607259
SPG8	8q24.13	KIAA0196	Pure	AD	603563
SPG9A	10q24.1	ALDH18A1	Complicated	AD	601162
SPG9B	10q24.1	ALDH18A1	Complicated	AR	616586
SPG10	12q13.3	KIF5A	Pure	AD	604187
SPG11	15q21.1	SPG11	Complicated	AR	604360
SPG12	19q13.32	RTN2	Pure	AD	604805
SPG13	2q33.1	HSPD1	Pure	AD	605280
SPG14	3q27-q28	SPG14	Complicated	AR	605229
SPG15	14q24.1	ZFYVE26	Complicated	AR	270700
SPG16	Xq11.2	SPG16	Complicated	X-linked	300266
SPG17	11q12.3	BSCL2	Complicated	AD	270685
SPG18	8p1123	ERLIN2	Complicated	AR	611225
SPG19	9q	–	Pure	AD	607152
SPG20	13q13.3	SPG20	Complicated	AR	275900
SPG21	15q22.31	ACP33	Complicated	AR	248900
SPG23	1q32.1	DSTYK	Complicated	AR	270750
SPG24	13q14	SPG24	Pure	AR	607584
SPG25	6q23-q24.1	SPG25	Complicated	AR	608220
SPG26	12p11.1-q14	B4GALNT1	Complicated	AR	609195
SPG27	10q22.1-q24.1	–	Complicated	AR	609041
SPG28	14q22.1	DDHD1	Pure	AR	609340
SPG29	1p31.1-p21.1	–	Complicated	AD	609727
SPG30	2q37.3	KIF1A	Pure	AR	610357
SPG31	2p11	REEP1	Pure	AD	609139
SPG32	14q12-q21	–	Complicated	AR	611252
SPG33	10q24.2	ZFYVE27	Pure	AD	610244
SPG34	Xq24-q25	–	Pure	X-linked	300750
SPG35	16q23.1	FA2H	Complicated	AR	612319
SPG36	12q23-q24	–	Complicated	AD	613096
SPG37	8p21.1-q13.3	SPG37	Pure	AD	611945
SPG38	4p16-p15	SPG38	Complicated	AD	612335
SPG39	19p13.2	PNPLA6	Complicated	AR	612020
SPG41	11p14.1-p11.2	SPG41	Pure	AD	613364
SPG42	3q25.31	SLC33A1	Pure	AD	612539
SPG43	19q12	C19ORF12	Complicated	AR	615043
SPG44	1q42.13	GJC2	Complicated	AR	613206
SPG45	10q24.3-q25.1	NT5C2	Complicated	AR	613162
SPG46	9p13.3	GBA2	Complicated	AR	614409
SPG47	1p13.2	AP4B1	Complicated	AR	614066
SPG48	7p22.1	AP5Z1	Pure	AR	613647
SPG49	14q32.31	TECPR2	Complicated	AR	615031
SPG50	7q22.1	AP4M1	Complicated	AR	612936
SPG51	15q21.2	AP4E1	Complicated	AR	613744
SPG52	14q12	AP4S1	Complicated	AR	614067
SPG53	8p22	VPS37A	Complicated	AR	614898
SPG54	8p11.23	DDHD2	Complicated	AR	615033
SPG55	12q24.31	C12ORF65	Complicated	AR	615035
SPG56	4q25	CYP2U1	Complicated	AR	615030
SPG57	3q12.2	TFG	Complicated	AR	615658
SPG58	17p13.2	KIF1C	Complicated	AR and AD	–
SPG61	16p12.3	ARL6IP1	Complicated	AR	615685
SPG62	10q24.3	ERLIN1	Complicated	AR	615681
SPG63	1p13.3	AMPD2	Complicated	AR	615686
SPG64	10q24.1	ENTPD1	Complicated	AR	615683
SPG72	5q31.2	REEP2	Pure	AR/AD	615625
SPG73	19q13.33	CPT1C	Pure	AD	616282
SPG74	1q42.1	IBA57	Complicated	AR	616451
SPG75	19q13.1	MAG	Complicated	AR	616680
SPG76	11q13.1	CAPN1	Complicated	AR	616907
SPG77	6p25.1	FARS2	Pure	AR	617046
SPG78	1p36.1	ATP13A2	Complicated	AR	617225
SPG79	4p13	UCHL1	Complicated	AR	615491
SPG80	9p13.3	UBAP1	Pure	AD	618418
SPG81	2p23.3	SELENOI	Complicated	AR	618768
SPG82	17q25.3	PCYT2	Complicated	AR	618770
SPG83	1p34.1	HPDL	Pure	AR	618994
SPG84	22q11.21	PI4KA	Complicated	AR	619621
SPG85	8p11.21	RNF170	Complicated	AR	619686
SPG86	6p21.33	ABHD16A	Complicated	AR	619735
SPG87	14q24.3	TMEM63C	Pure or complicated	AR	619966

Data from Online Mendelian Inheritance in Man.

Graphic 95449 Version 8.0

خرید پکیج

Genetic forms of hereditary spastic paraplegia