1. Muscular dystrophies5. Other myopathies9. Metabolic myopathies13. Hereditary ataxias
2. Congenital muscular dystrophies6. Myotonic syndromes10. Hereditary cardiomyopathies14. Hereditary motor and sensory neuropathies
3. Congenital myopathies7. Ion channel muscle diseases11. Congenital myasthenic syndromes15. Hereditary paraplegias
4. Distal myopathies8. Malignant hyperthermia12. Motor neuron diseases16. Other neuromuscular disorders

7. ION CHANNEL MUSCLE DISEASES (See references) - (download list of genes)
(A) Chloride channel
Grey lines background indicate newly added items
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Myotonia congenita , dominant (Thomsen) - (AD)
7.1
1379744
7981750
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
* Myotonia recessive - CLC1
* Myotonia congenita, autosomal dominant, Thomsen disease - THD
* Myotonia congenita, autosomal recessive, Becker disease - MCR
Myotonia, recessive (Becker) - (AR)
7.2
1379744
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
* Myotonia recessive - CLC1
* Myotonia congenita, autosomal dominant, Thomsen disease - THD
* Myotonia congenita, autosomal recessive, Becker disease - MCR
(B) Sodium channel
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Hyperkalemic periodic paralysis - (AD)
7.3
1654742
1659668
1659948
2173143
8058156
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha
* Hyperkalemic periodic paralysis - HYPP
* Myotonia potassium-aggravatd
* Sodium-channel myasthenia
* Myasthenic syndrome, acetazolamide-responsive
* Hyperkalemic periodic paralysis, type 2 - HOKPP2
* Paramyotonia congenita of Von Eulenburg - PMC
* Potassium-aggravated myotonia
Hypokalemic periodic paralysis type 2 - (AD)
7.4
10599760
10944223
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha
* Hyperkalemic periodic paralysis - HYPP
* Myotonia potassium-aggravatd
* Sodium-channel myasthenia
* Myasthenic syndrome, acetazolamide-responsive
* Hyperkalemic periodic paralysis, type 2 - HOKPP2
* Paramyotonia congenita of Von Eulenburg - PMC
* Potassium-aggravated myotonia
Paramyotonia congenita - (AD)
7.5
1310898
1316765
1654742
1686388
8388676
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha
* Hyperkalemic periodic paralysis - HYPP
* Myotonia potassium-aggravatd
* Sodium-channel myasthenia
* Myasthenic syndrome, acetazolamide-responsive
* Hyperkalemic periodic paralysis, type 2 - HOKPP2
* Paramyotonia congenita of Von Eulenburg - PMC
* Potassium-aggravated myotonia
Potassium aggravated myotonia - (AD)
7.6
1310531
8058156
8242056
8308722
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha
* Hyperkalemic periodic paralysis - HYPP
* Myotonia potassium-aggravatd
* Sodium-channel myasthenia
* Myasthenic syndrome, acetazolamide-responsive
* Hyperkalemic periodic paralysis, type 2 - HOKPP2
* Paramyotonia congenita of Von Eulenburg - PMC
* Potassium-aggravated myotonia
Long QT syndrome (Romano-Ward syndrome) - (AD)
7.7
7889574
SCN5A (3p21)
Voltage-gated sodium channel type V alpha
* Progressive familial heart block, type I - PFHBI
* Cardiomyopathy, dilated, 1E - CMD1E
* Sick Sinus Syndrome 1, autosomal recessive - SSS1
* Ventricular fibrillation, idiopathic - IVF
* Ventricular fibrillation, paroxysmal familial - VF
* Hereditary bundle branch system defect - HBBD
* Cardiac conduction defect, progressive - PCCD
* Brugada syndrome - SCN5A
* Long QT syndrome-3 - LQT3
(C) Calcium channel
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Hypokalaemic periodic paralysis type 1 - (AD)
7.8
7847370
7987325
8012389
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit
* Hypokalemic periodic paralysis - CACNL1A3
* Congenital myopathy with ophthalmoplegia related to CACNA1S
* Malignant hyperthermia susceptibility 5 - MHS5
* Hypokalaemic periodic paralysis, type 1 - hypoKPP1
Acetazolamide responsive hereditary paroxysmal cerebellar ataxia - (AD)
7.9
7695228
7757080
CACNA1A (19p13.2-p13.1)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
* Spinocerebellar ataxia 6 - SCA6
* Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA
* Cerebellar ataxia, pure - CACNA1A
* Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA
* Episodic ataxia, type 2 - EA2
Episodic ataxia type-2 - (AD)
7.10
8898206
9302278
CACNA1A (19p13.2-p13.1)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
* Spinocerebellar ataxia 6 - SCA6
* Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA
* Cerebellar ataxia, pure - CACNA1A
* Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA
* Episodic ataxia, type 2 - EA2
(D) Potassium channel
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Hypokalemic periodic paralysis type 3 - (AD)
7.11
11207363
KCNE3 (11q13-q14)
Potassium voltage-gated channel, Isk-related family, member 3
* Brugada syndrome 6 - BRGDA6
* Hypokalaemic periodic paralysis, type 3 - hypoKPP3
Episodic ataxia/myokymia - (AD)
7.12
7842011
KCNA1 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 1
* Episodic ataxia with myokymia - EA1
Thyrotoxic hypokalemic periodic paralysis
7.13
20074522
KCNJ18 (17p11.2)
Kir2.6 (inwardly rectifying potassium channel 2.6)
* Thyrotoxic periodic paralysis, susceptibility to, 2 - TTPP2
Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - (AD)
7.14
11207363
11371347
8845167
KCNJ2 (17q23)
Potassium inwardly-rectifying channel J2
* Long QT syndrome-7 - LQT7
* Atrial fibrillation, 9 - ATFB9
* Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS
Long QT syndrome (Romano-Ward syndrome) - (AD)
7.15
7889573
KCNH2 (7q35-q36)
Voltage-gated potassium channel, subfamily H, member 2
* Short qt syndrome 1 - SQT1
* Long QT syndrome-2 - LQT2
Potassium channel Long QT syndrome (Romano-Ward syndrome) - (AD)
7.16
8528244
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1
* Atrial fibrillation, 3 - ATFB3
* jervell and lange-nielsen syndrome - JLNS1
* Romano-Ward syndrome - RWS
* Long QT syndrome-1 - LQT1
Potassium channel Long QT syndrome (Jervell and Lange-Nielsen cardioauditory syndrome) - (AR)
7.17
9020846
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1
* Atrial fibrillation, 3 - ATFB3
* jervell and lange-nielsen syndrome - JLNS1
* Romano-Ward syndrome - RWS
* Long QT syndrome-1 - LQT1
Potassium channel Long QT syndrome (Romano-Ward syndrome) - (AD)
7.18
9354802
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2
* Atrial fibrillation, 4 - ATFB4
* Long QT syndrome-6 - LQT6
Long QT syndrome (Jervell and Lange-Nielsen cardioauditory syndrome) - (AR)
7.19
9354783
KCNE1 (21q22.1-q22.2)
Potassium voltage-gated channel, Isk-related family, member 1
* Jervell and Lange-Nielsen syndrome - JLNS1
* Long QT syndrome-5 - LQT5