Chromosome number :

1
2
3
4
5
6
7
8
9
X

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