chromosome | gene symbol | phenotype |
| 7p13-p12 | PGAM2 phosphoglycerate mutase 2 (muscle) | Myopathy due to phosphoglycerate mutase deficiency -PGAMM
|
| 7p15 | GARS glycyl-tRNA synthetase | Spinal muscular atrophy, distal, type V -DSMAV
Neuropathy, distal hereditary motor type V -HMN V
Charcot-Marie-Tooth disease, axonal, type 2D -CMT2D
|
| 7p15 | VAPB vesicle-associated membrane protein-associated protein B and C | Amyotrophic lateral sclerosis -ALS8
|
| 7p21-p15 | ? | Spinocerebellar ataxia 19 -SCA21
|
| 7q | ? | Limb girdle muscular dystrophy 1D (autosomal dominant) -LGMD1D
|
| 7q11.23 | HSPB1 heat shock 27kDa protein 1 | Charcot-Marie-Tooth neuropathy Type 2F -CMT2F
Neuronopathy, distal hereditary motor, type IIB
neuronopathy, distal her -HMN2B
|
| 7q21-q22 | SGCE sarcoglycan, epsilon | Myoclonus-dystonia syndrome -DYT11
|
| 7q21-q22 | ? | Malignant hyperthermia susceptibility 3 -MHS3
|
| 7q22-q32 | ? | Spinocerebellar ataxia 18 -SCA18
|
| 7q22.3-q31.1 | ? | Cardiomyopathy, dilated, 1Q -CMD1Q
|
| 7q31 | PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit | Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome -CMH6
|
| 7q32 | LGMD1F ? | Muscular dystrophy, Limb-Girdle, Type 1F -LGMD1F
|
| 7q32 | FLNC filamin C, gamma (actin-binding protein - 280) | Filaminopathy, autosomal dominant -MYFM
Myopathy, myofibrillar, filamin C-related -MYFM
Filamin C-related -MFM
|
| 7q34-q36 | ? | Neuronopathy, distal hereditary motor, type I -HMN1
|
| 7q35 | CLCN1 chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) | Myotonia congenita, autosomal dominant, Thomsen disease -THD
Myotonia congenita, autosomal recessive, Becker disease -MCR
Myotonia recessive -CLC1
|
| 7q35-q36 | KCNH2 voltage-gated potassium channel, subfamily H, member 2 | Long QT syndrome-2 -LQT2
Short qt syndrome 1 -SQT1
|