chromosome | gene symbol | phenotype |
| 8p12-p11.21 | ? | Spastic paraplegia 18 -SPG18
|
| 8p12-q13 | CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 | Spastic paraplegia 5A -SPG5A
|
| 8p21 | NEFL neurofilament, light polypeptide 68kDa | Charcot-Marie-Tooth disease, type 2E -CMT2E
Charcot-Marie-Tooth disease, type 1F -CMT1F
|
| 8p21.1-q13.3 | ? | Spastic paraplegia 37, autosomal dominant -SPG37
|
| 8p22-q11 | ? | Adult onset distal myopathy -MPD3
|
| 8p23 | ARHGEF10 Rho guanine nucleotide exchange factor 10 | Slowed nerve conduction velocity, autosomal dominant -NCV
|
| 8q13-q21 | GDAP1 ganglioside-induced differentiation-associated protein 1 | Charcot-Marie-Tooth disease, type 4A -CMT4A
Charcot-Marie-Tooth disease, mixed axonal and demyelinating type -CMT4A
Charcot-Marie-Tooth disease, type 2K -CMT2K
|
| 8q13.1-q13.3 | TTPA tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) | Ataxia, Friedreich-like, with selective vitamin E deficiency -AVED
Ataxia with isolated vitamin E deficiency -TTPA
|
| 8q21.3 | ? | Charcot-Marie-Tooth neuropathy Type 2H -CMT2H
|
| 8q23.1 | RRM2B ribonucleotide reductase M2 B (TP53 inducible) | Mitochondrial dna depletion syndrome 8A -MTDP8B
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal -PEOA5
|
| 8q24 | PLEC1 plectin 1, intermediate filament binding protein 500kDa | Myasthenic syndrome, with plectin defect -
Epidermolysis bullosa simplex associated with late-onset muscular dystrophy -MDEBS
Limb-girdle, muscular dystrophy, type 2q -LGMD2Q
|
| 8q24.13 | KIAA0196 strumpellin | Spastic paraplegia 8 -SPG8
|
| 8q24.3 | NDRG1 N-myc downstream regulated gene 1 | Charcot-Marie-Tooth disease, type 4D -CMT4D
Neuropathy, hereditary motor and sensory, lom type -HMSNL
|