Disorder | Gene | Locus |
CMT1 | ||
CMT1A | PMP22 | 17p12 |
CMT1B | MPZ | 1q23.3 |
CMT1C | LITAF | 16p13.13 |
CMT1D | EGR2 | 10q21.3 |
CMT1E | PMP22 | 17p12 |
CMT1F | NEFL | 8p21 |
CMT1G | PMP2 | 8q21.13 |
CMT1H | FBLN5 | 14q32.12 |
CMT1I | POLR3B | 12q23.2 |
Roussy-Levy | MPZ | 1q23.3 |
PMP22 | 17p12 | |
CMT2 | ||
CMT2A | MFN2 | 1p36.2 |
CMT2B | RAB7 | 3q21.3 |
CMT2C | TRPV4 | 12q24.1 |
CMT2D | GARS | 7p15 |
CMT2E | NEFL | 8p |
CMT2F | HSPB1 | 7q11.23 |
CMT2H | Unknown | 8q13-q23 |
CMT2I/2J | MPZ | 1q23.3 |
CMT2K | GDAP1 (JPH1 modifier) | 8q21.11 |
CMT2L | HSPB8 | 12q24.23 |
CMT2M | DNM2 | 19p13.2 |
CMT2N | AARS1 | 16q22.1 |
CMT2O | DYNC1H1 | 14q32.31 |
CMT2P | LRSAM1 | 9q33.3-q34.1 |
CMT2S | IGHMBP2 | 11q13.3 |
CMT2T | MME | 3q25.2 |
CMT2U | MARS1 | 12q13.3 |
CMT2V | NAGLU | 17q21.2 |
CMT2W | HARS1 | 5q31.3 |
CMT2X | SPG11 | 15q21.1 |
CMT2Y | VCP | 9p13.3 |
CMT2Z | MORC2 | 22q12.2 |
CMT2DD | ATP2A1 | 1p13.1 |
CMTX | ||
CMTX1 | GJB1 | Xq13.1 |
CMTX2 | Not known | Xp22 |
CMTX3 | 78kb insertion from chromosome 8 | Xq27.1 |
CMTX4 (Cowchock syndrome) | AIFM1 | Xq26 |
CMTX5 | PRPS1 | Xq22.3 |
CMTX6 | PDK3 | Xp22.11 |
CMT3 | ||
Dejerine-Sottas syndrome | PMP22 | 17p12 |
MPZ | 1q23.3 | |
EGR2 | 10q21.3 | |
Congenital hypomyelinating neuropathy | PMP22 | 17p12 |
MPZ | 1q23.3 | |
EGR2 | 10q21.3 | |
CMT4 | ||
CMT4A | GDAP1 | 8q21.11 |
CMT4B1 | MTMR2 | 11q21 |
CMT4B2 | SBF2 | 11p15.4 |
CMT4B3 | SBF1 | 22q13.33 |
CMT4C | SH3TC2 | 5q32 |
CMT4D | NDRG1 | 8q24.22 |
CMT4E | EGR2 | 10q21.3 |
CMT4F | PRX | 19q13.2 |
CMT4G | HK1 | 10q22.1 |
CMT4H | FGD4 | 12p11.21 |
CMT4J | FIG4 | 6q21 |
CMT4K | SURF1 | 9q34.2 |
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