Table 2.
| Type | Inh. | Gene | Chromosome |
|---|---|---|---|
| Alzheimer disease (AD) | |||
| AD1 | AD | APP | 21q21.3 |
| AD2 | ? | APOE | 19q 13.32 |
| AD3 | AD | PSEN1 | 14q24.2 |
| AD4 | AD | PSEN2 | 1q4213 |
| AD5 | ? | ? | 12p11-q13 |
| AD6 | ? | ? | 10q 24 |
| AD 7 | ? | ? | 10p13 |
| AD8 | ? | ? | 20p |
| AD9 | ? | ? | 19p13.2 |
| AD10 | ? | ? | 7q36 |
| AD11 | ? | ? | 9p21.3 |
| AD12 | ? | ? | 8p12-q22 |
| AD13 | ? | ? | 1q21 |
| AD14 | ? | ? | 1q25 |
| AD15 | ? | ? | 3q22-q24 |
| AD16 | XL | ? | Xq 21.3 |
| Amyotrophic lateral sclerosis ( ALS) | |||
| ALS1 | AD | SOD1 | 21q 22.11 |
| ALS2 (J) | AR | ALS2 | 2q33.1 |
| ALS3 | AD | ? | 18q 21 |
| ALS4 (J) | AD | SETX | 9q34.13 |
| ALS5 | AR | ? | 15q15-q21 |
| ALS6 | AR | FUS | 16p11.2 |
| ALS7 | AD | ? | 20p13 |
| ALS8 | AD | VAPB | 20q 13.32 |
| ALS9 | AD | ANG | 14q11.2 |
| ALS10 | AD | TARDBP | 1p36.22 |
| ALS11 | AD | FIG4 | 6q21 |
| ALS12 | AD/AR | OPTN | 10p13 |
| ALS13 | AD | ATXN2 | 12q 24.12 |
| ? | AR | SPG11 | 15q21.1 |
| ? | AD | VCP | 9p13.3 |
| Charcot-Marie-Tooth disease ( CMT) | |||
| CMT1A | AD | PM P22 | 17p12 |
| CMT1B | AD | MPZ | 1q23.3 |
| CMT1C | AD | LITAF | 16p13.13 |
| CMT1D | AD | EGR2 | 10q 21.3 |
| CMT1F | AD | NEFL | 8p21.2 |
| CMT2A1 | AD | KIF1B | 1p36.22 |
| CM T2A2 | AD | MFN2 | 1p36.22 |
| CM T2B | AD | RAB7A | 3q21.3 |
| CMT2B1 | AR | LMNA | 1q22 |
| CM T2B2 | AR | MED25 | 19q 13.33 |
| CM T2C | AD | TR PV4 | 12q 24.11 |
| CM T2D | AD | GARS | 7p14.3 |
| CM T2E | AD | NEFL | 8p21.2 |
| CM T2F | AD/AR | HSPB1 | 7q11.23 |
| CM T2G | AD | ? | 12q12-q13.3 |
| CM T2H | AR | ? | 8q21 3 |
| CM T2I | AD | MPZ | 1q23.3 |
| CM T2J | AD | MPZ | 1q23.3 |
| CM T2K | AD | GDAP1 | 8q21.11 |
| CM T2L | AD | HSPB8 | 12q 24.23 |
| CM T2M | AD | DN M2 | 19p13.2 |
| CM T2N | AD | AARS | 16q 22.1 |
| CM T4A | AR | GDAP1 | 8q21.11 |
| CMT4B1 | AR | MTMR2 | 11q 21 |
| CM T4B2 | AR | SBF2 | 11p15.4 |
| CM T4C | AR | SH 3TC2 | 5q32 |
| CM T4D | AR | NDRG1 | 8q24.22 |
| CM T4E | AD/AR | EGR2 | 10q 21.3 |
| CM T4F | AR | PR X | 19q 13.2 |
| CM T4G | AR | ? | 10q 23.2 |
| CM T4H | AR | FGD4 | 12p1121 |
| CM T4J | AR | F G4 | 6q21 |
| CM TDIA | AD | ? | 10q24.1-q25.1 |
| CM TDIB | AD | DN M2 | 19p13.2 |
| CM TDIC | AD | YARS | 1p35.1 |
| CM TX1 | XL | GJB1 | Xq 13 1 |
| Huntington disease (HD) | |||
| HD | AD | HTT | 4p16 3 |
| Hereditary spastic paraplegia ( HSP) | |||
| SPG1 | XL | L1CAM | Xq 28 |
| SPG2 | XL | PLP1 | Xq 22 |
| SPG3A | AD | ATL1 | 14q 22 1 |
| SPG4 | AD | SPAST | 2p22 3 |
| SPG5A | AR | CYP7B1 | 8q12 3 |
| SPG6 | AD | NIPA1 | 15q112 |
| SPG7 | AR | SPG7 | 16q 24 3 |
| SPG8 | AD | KIAA0196 | 8q24.13 |
| SPG9 | AD | ? | 10q 23.3-q24.1 |
| SPG10 | AD | KIF5A | 12q 13.3 |
| SPG11 | AR | SPG11 | 15q21.1 |
| SPG12 | AD | ? | 19q13.11-q 13.13 |
| SPG13 | AD | HSPD1 | 2q33.1 |
| SPG14 | AR | ? | 3q27-q28 |
| SPG15 | AR | ZFYVE26 | 14q 24.1 |
| SPG16 | XL | ? | Xq11.2 |
| SPG17 | AD | BSCL2 | 11q 12.3 |
| SPG18 | AR | ? | 8p12-p11.21 |
| SPG19 | AD | ? | 9q33-q34 |
| SPG20 | AR | SPG20 | 13q 13.3 |
| SPG21 | AR | SPG21 | 15q 22.31 |
| SPG22 | XL | SLC16A2 | Xq 13.2 |
| SPG23 | AR | ? | 1q24- q32 |
| SPG24 | AR | ? | 13q 14.3 |
| SPG25 | AR | ? | 6q23.3-q24.1 |
| SPG26 | AR | ? | 12p11.1-q15 |
| SPG27 | AR | ? | 10q 22 1-q24 1 |
| SPG28 | AR | ? | 14q 21.3-q22.3 |
| SPG29 | AD | ? | 1p31.1-p21.1 |
| SPG30 | AR | ? | 2q37 3 |
| SPG31 | AD | REEP1 | 2p11.2 |
| SPG32 | AR | ? | 14q12-q21 |
| SPG33 | AD | ZFYVE27 | 10q 24.2 |
| SPG34 | XL | ? | Xq24-q25 |
| SPG35 | AR | ? | 16q 21-q 23.1 |
| SPG36 | AD | ? | 12q 23-q 24 |
| SPG37 | AD | ? | 8p21.1-q13.3 |
| SPG38 | AD | ? | 4p16-p15 |
| SPG39 | AR | PN PLA6 | 19p13 2 |
| SPG40 | AD | ATL1 | 14q 22.1 |
| SPG41 | AD | ? | 11p14.1-p11.2 |
| SPG42 | AD | SLC33A1 | 3q25.31 |
| SPG44 | AR | GJC2 | 1q42 13 |
| SPG45 | AR | ? | 10q24.3-q25.1 |
| ? | AR | AIMP1 | 4q24 |
| Optic atrophy( OA) | |||
| OPA1 | AD | OPA1 | 3q29 |
| OPA2 | XL | ? | Xp11.4-p11.21 |
| OPA3 | AD | OPA3 | 19q 13 32 |
| OPA4 | AD | ? | 18q12.2-q123 |
| OPA5 | ADAR | ? | 22q12.1-q13.1 |
| OPA6 | AR | ? | 8q21 13-q22 1 |
| OPA7 | AR | TM EM126 | A 11q 14.1 |
| LHON | M | ND genes | mtDNA |
| Parkinson disease ( PD)) | |||
| PARK1/4 | AD | SN CA | 4q22.1 |
| PARK2 | AR | PARK2 | 6q26 |
| PARK3 | AD | ? | 2p13 |
| PARK5 | AD | UCHL1 | 4p13 |
| PARK6 | AR | PIN K1 | 1p36 12 |
| PARK7 | AR | PARK7/Park | in 1p36 23 |
| PARK8 | AD | LRRK2 | 12q 12 |
| PARK9 | AR | ATP13A2 | 1p36 13 |
| PARK10 | ? | ? | 1p32 |
| PARK11 | AD | GIGYF2 | 2q37 1 |
| PARK12 | ? | ? | Xq21-q25 |
| PARK13 | ? | HTRA2 | 2p13 1 |
| PARK14 | ? | PLA2G6 | 22q 13 1 |
| PARK15 | AR | FBXO7 | 22q 12 3 |
| PARK16 | ? | ? | 1q32 |
| ? | AR | SPG11 | 15q21.1 |
| ? | AR | NDUFV2 | 18p11 22 |
| Spinocerebellar ataxia ( SCA) | |||
| SCA1 | AD | ATXN1 | 6p22.3 |
| SCA2 | AD | ATXN2 | 12q 24.12 |
| SCA3 | AD | ATXN3 | 14q 32.12 |
| SCA4 | AD | PLEKHG4 | 16q 22.1 |
| SCA5 | AD | SPTBN2 | 11q 13.2 |
| SCA6 | AD | CACNA1A | 19p13.2 |
| SCA7 | AD | ATXN7 | 3p14.1 |
| SCA8 | AD | ATXN8 | 13q 21.33 |
| SCA8 | AD | ATXN 8OS | 13q 21.33 |
| SCA9 | AD | ? | ? |
| SCA10 | AD | ATXN10 | 22q 13.31 |
| SCA11 | AD | TTBK2 | 15q15.2 |
| SCA12 | AD | PPP2R2B | 5q32 |
| SCA13 | AD | KCNC3 | 19q 13.33 |
| SCA14 | AD | PR KCG | 19q 13.42 |
| SCA15 | AD | ITPR1 | 3p26.1 |
| SCA16 | AD | CN TN4 | 3p26.2 |
| SCA17 | AD | TBP | 6q27 |
| SCA18 | AD | ? | 7q22-q23 |
| SCA19 | AD | ? | 1p21-q21 |
| SCA20 | AD | ? | 11p13-q 11 |
| SCA21 | AD | ? | 7p21.3-p15.1 |
| SCA22 | AD | ? | 1p21-q23 |
| SCA23 | AD | ? | 20p13-p12.3 |
| SCA24 | AR | ? | 1p36 |
| SCA25 | AD | ? | 2p21-p13 |
| SCA26 | AD | ? | 19p13.3 |
| SCA27 | AD | FGF14 | 13q 33.1 |
| SCA28 | AR | AFG3L2 | 18p11.21 |
| SCA29 | AD | ? | 3p26 |
| SCA30 | AD | ? | 4q34.3-q35.1 |
| SCA31 | AD | BEAN -TK2 | 16q 21 |
| SCAN1 | AR | TDP1 | 14q 32.1 |
| SCAR1 | AR | SETX | 9q34.13 |
| SCAR2 | AR | ? | 9q34-qter |
| SCAR3 | AR | ? | 6p23-p21 |
| SCAR4 | AR | ? | 1p36 |
| SCAR5 | AR | ? | 15q25.3 |
| SCAR6 | AR | ? | 20q 11-q 13 |
| SCAR7 | AR | ? | 11p15 |
| SCAR8 | AR | SYNE1 | 6q25.2 |
| SCAR9 | AR | ADCK3 | 1q42 13 |
| SCAX1 | XL | ? | Xp11 21-q21 3 |
| DR PLA | AD | ATN1 | 12p13 31 |
| FR DA1 | AR | FXN | 9q21 11 |
| FR DA2 | AR | ? | 9p23-p11 |
| IOSCA | AR | C10orl2 | 10q 24 31 |
| MIRAS | AR | POLG | 15q26.1 |
| ? | AR | AN O10 | 3p22 1 |
| ? | AD | SCN8A | 12q 13.3 |
Disease classification as listed in OMIM. Inh., Inheritance. AD, autosomal dominant; AR, autosomal recessive; M, mitochondrial; XL, X-linked.