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
|