Chromosome number :

1
2
3
4
5
6
7
8
9
X

chromosome
gene symbol
phenotype
2p11.2
REEP1
receptor accessory protein 1
Spastic paraplegia 31 -SPG31
2p12-14
DYSF
dysferlin
Muscular dystrophy, limb-girdle, type 2B -LGMD2B
Miyoshi myopathy -MM
2p12-p15
GFPT1
glutamine-fructose-6-phosphate transaminase 1
Myastenia, Limb-Girdle, With tubular aggregates -LGM
2p13
?
Welander distal myopathy -WDM
2p13
DCTN1
dynactin 1
Neuronopathy, distal hereditary motor, type VIIB -HMN7B
2p24-p21
SPAST
spastin
Familial spastic paraplegia, autosomal dominant, 2 -FSP2
Spastic paraplegia 4 -SPG4
2p25.1
LPIN1
Lipin 1 (phosphatidic acid phosphatase 1)
Reccurrent myoglobinuria, autosomal recessive -
2q14
BIN1
amphiphysin
centronuclear myopathy, recessive -
2q14
?
Motor neuropathy, distal, with vocal cord paralysis -HMN7
2q14-q22
?
Cardiomyopathy, dilated, 1H -CMD1H
2q22
NEB
nebulin
Nemaline myopathy 2, autosomal recessive -NEM2
2q22-q23
CACNB4
calcium channel, voltage-dependent, beta 4 subunit
episodic ataxia type 5, included -EA5
2q23-q24
ACVR1
activin A receptor, type II-like kinase 2
Fibrodysplasia ossificans progressiva -FOP
2q24-q32
CHRNA1
cholinergic receptor, nicotinic, alpha polypeptide 1
Myasthenic syndrome, slow-channel congenital -SCCMS
Myasthenic syndrome, fast-channel congenital -FCCMS
2q31
TTN
titin
Congenital myopathy with fatal cardiomyopathy -
Cardiomyopathy, familial hypertrophic, 9 -CMH9
Tibial muscular dystrophy, tardive -TMD
Hereditry myopathy with early respiratory failure -HMERF
Autosomal dominant myopathy with proximal muscle weakness and early respiratory -
Cardiomyopathy, dilated, 1G -CMD1G
Limb girdle muscular dystrophy 2J (autosomal recessive) -LGMD2J
2q31.1
HOXD10
homeobox D10
Charcot-Marie-Tooth disease, congenital, vertical talus -
2Q32
GDF8
myostatin, muscular hypertrophy
Muscle hypertrophy -MSLHP
2q32.1-q32.3
?
Arrhythmogenic right ventricular cardiomyopathy 4 -ARVC4
Arrhythmogenic right ventricular dysplasia, familial, 4 -ARVD4
2q33-34
?
autosomal recessive spastic ataxia with leukoencephalopathy -ARSAL
2q33-q34
CHRND
cholinergic receptor, nicotinic, delta
Myasthenic syndrome, slow-channel congenital -SCCMS
Myasthenic syndrome, fast-channel congenital -FCCMS
2q33-q34
CHRNG
cholinergic receptor, nicotinic, gamma polypeptide
Escobar syndrome (multiple pterygium syndrome) -CHRNG
2q33.1
HSPD1
heat shock 60kDa protein 1 (chaperonin)
Spastic paraplegia 13 -SPG13
2q33.2
ALS2
alsin
Amyotrophic lateral sclerosis, juvenile -ALS2
Primary lateral sclerosis, juvenile -PLSJ
Spastic paralysis, infantile onset ascending -IAHSP
2q35
DES
desmin
Desmin-related myopathy -DRM
Myofibrillar myopathy, desmin-related myopathy -
Dilated cardiomyopathy, 1I -CMD1I
2q37
COL6A3
alpha 3 type VI collagen
Bethlem myopathy -
Ullrich congenital muscular dystrophy -UCMD
2q37.3
KIF1A
kinesin family member 1A
Spastic paraplegia 30 -SPG30
Neuropathy, hereditary sensory, type IIC -HSN2C