Chromosome number :

1
2
3
4
5
6
7
8
9
X

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