1. Muscular dystrophies 5. Other myopathies 9. Metabolic myopathies 13. Hereditary ataxias
2. Congenital muscular dystrophies 6. Myotonic syndromes 10. Hereditary cardiomyopathies 14. Hereditary motor and sensory neuropathies
3. Congenital myopathies 7. Ion channel muscle diseases 11. Congenital myasthenic syndromes 15. Hereditary paraplegias
4. Distal myopathies 8. Malignant hyperthermia 12. Spinal muscular atrophies 16. Other neuromuscular disorders


10. Hereditary cardiomyopathies (See references)

Disease phenotype
Item in this table
Key references
Gene symbol (chromosome)
protein
All allelic disease phenotypes - locus/disease symbols
Familial hypertrophic cardiomyopathy, 1 - (AD)
10.1
1975475
2144212
2811944
MYH6 (14q12)
myosin heavy chain 6
MYH7 (14q12)
myosin, heavy polypeptide 7, cardiac muscle, beta
Asymetric septal hypertrophy, hereditary -ASH
Cardiomyopathy, familial hypertrophic -CMH
Cardiomyopathy, dilated, 1A -CMD1A
Cardiomyopathy, dilated, 1S -CMD1S
cardiomyopathy, dilated, 1s, included -CMD1S
cardiomyopathy, familial hypertrophic, 1, included -CMH1
Familial hypertrophic cardiomyopathy -FHC1
Myopathy, distal 1 -MPD1
Myosin storage myopathy -MYH7
Familial hypertrophic cardiomyopathy, 2 - (AD)
10.2
7493025
7889574
7981753
8205619
8528244
TNNT2 (1q32)
troponin T2, cardiac
Cardiomyopathy, dilated, 1D -CMD1D
Cardiomyopathy, familial hypertrophic, 2 -CMH2
Familial hypertrophic cardiomyopathy, 3 - (AD)
10.3
8205619
TPM1 (15q22)
tropomyosin 1 (alpha)
Cardiomyopathy, familial hypertrophic, 3 -CMH3
Familial hypertrophic cardiomyopathy, 4 - (AD)
10.4
7493025
7493026
8358441
MYBPC3 (11p11.2)
cardiac myosin binding protein-C
Cardiomyopathy, familial hypertrophic, 4 -CMH4
congenital skeletal myopathy and fatal cardiomyopathy -
Familial hypertrophic cardiomyopathy, 6 - (AD)
10.5
11371514
PRKAG2 (7q31)
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome -CMH6
Familial hypertrophic cardiomyopathy, 7 - (AD)
10.6
9241277
TNNI3 (19q13.4)
troponin I, cardiac
Cardiomyopathy, familial hypertrophic -CMH7
Cardiomyopathy, familial restrictive -RCM
Familial hypertrophic cardiomyopathy, 8 - (AD)
10.7
8673105
MYL3 (3p21.3-p21.2)
myosin light chain 3
Cardiomopathy, hypertrophic, mid-ventricular chamber type -MYL3
Familial hypertrophic cardiomyopathy, 9 - (AD)
10.8
10462489
TTN (2q31)
titin
Cardiomyopathy, dilated, 1G -CMD1G
Cardiomyopathy, familial hypertrophic, 9 -CMH9
Hereditry myopathy with early respiratory failure -HMERF
Limb girdle muscular dystrophy 2J (autosomal recessive) -LGMD2J
Tibial muscular dystrophy, tardive -TMD
Familial hypertrophic cardiomyopathy, 10 - (AD)
10.9
8673105
MYL2 (12q23-q24.3)
myosin light chain 2
Cardiomyopathy, hypertrophic, mid-left ventricular chamber type -MYL2
Familial hypertrophic cardiomyopathy, 11 - (AD)
10.10
10330430
ACTC1 (15q11-q14)
actin, alpha, cardiac muscle precursor
Asymmetric septal hypertrophy -ASH
Cardiomyopathy, dilated, 1R -CMD1R
Cardiomyopathy, familial hypertrophic -CMH1
Familial hypertrophic cardiomyopathy, 12 - (AD)
10.11
11733062
MYLK2 (20q13.31)
myosin light chain kinase 2
cardiomyopathy, familial hypertrophic -CMH
Familial hypertrophic cardiomyopathy, 13 - (AD)
10.12
14672715
15580566
CAV3 (3p25)
caveolin 3
cardiomyopathy, familial hypertrophic -CMH
Creatine phosphokinase, elevated serum -CPK
Hyperckemia, idiopathic -CAV3
Muscular dystrophy, limb-girdle, type IC -LGMD1C
Rippling muscle disease -RMD2
Hypertrophic cardiomyopathy with vinculin deficiency - (-)
10.13
16236538
VCL (10q22.1-q23)
vinculin
Cardiomyopathy, dilated, 1W -CMD1W
Metavinculin, included -VCL
Early -onset fatal hypertrophic cardiomyopathy cardiomyopathies - (AR)
10.13
12474143
COX15 (10q24)
COX15 homolog, cytochrome c oxidase assembly protein (yeast)
Cardiomyopathy, hypertrophic, early-onset fatal -
Dilated cardiomyopathy, 1A - (AD)
10.14
10580070
LMNA (1q21.2-q21.3)
lamin A/C
Cardiomyopathy, dilated, 1A -CMD1A
Charcot-Marie-Tooth disease, axonal, type 2B1 -CMT2B1
Emery-Dreifuss Autosomal recessive -EDMD3
Emery-Dreifuss muscular dystrophy, autosomal dominant -EDMD2
Hutchinson-Gilford progeria syndrome -HGPS
Lipodystrophy, familial partial, type 2 -FPLD2
Lipodystrophy, familial partial, type 2 -FPLD2
Mandibuloacral dysplasia with type a lipodystrophy -MADA
Muscular dystrophy, limb-girdle, type 1B -LGMD1B
restrictive dermopathy -
restrictive dermopathy -
Dilated cardiomyopathy, 1AA - (AD)
10.15
14567970
ACTN2 (1q42-q43)
actinin alpha2
dilated cardiomyopathy, 1aa -CMD1AA
Dilated cardiomyopathy, 1B - (AD)
10.16
7573045
? - (9q13)
Cardiomyopathy, familial dilated, 1 -CMD1B
Dilated cardiomyopathy, 1C - (AD)
10.17
14660611
14662268
8823300
LDB3 (10q22)
LIM domain binding 3
cardiomyopathy, dilated 1C -CMD1C
myofibrillar myopathy ZASP-related -MFMZ
Dilated cardiomyopathy, 1D - (AD)
10.18
11106718
8521556
TNNT2 (1q32)
troponin T2, cardiac
Cardiomyopathy, dilated, 1D -CMD1D
Cardiomyopathy, familial hypertrophic, 2 -CMH2
Dilated cardiomyopathy, 1E with conduction disorder and arrythmia - (AD)
10.19
15466643
SCN5A (3p21)
voltage-gated sodium channel type V alpha
Brugada syndrome -SCN5A
Cardiac conduction defect, progressive -PCCD
Cardiomyopathy, dilated, 1E -CMD1E
Hereditary bundle branch system defect -HBBD
Long QT syndrome-3 -LQT3
Progressive familial heart block, type I -PFHBI
Sick Sinus Syndrome 1, autosomal recessive -SSS1
Ventricular fibrillation, idiopathic -IVF
Ventricular fibrillation, paroxysmal familial -VF
Dilated cardiomyopathy, 1F - (AD)
10.20
9382102
? - (6q23)
Cardiomyopathy, dilated, 1F -CMD1F
Dilated cardiomyopathy, 1G - (AD)
10.21
10051295
11788824
11846417
TTN (2q31)
titin
Cardiomyopathy, dilated, 1G -CMD1G
Cardiomyopathy, familial hypertrophic, 9 -CMH9
Hereditry myopathy with early respiratory failure -HMERF
Limb girdle muscular dystrophy 2J (autosomal recessive) -LGMD2J
Tibial muscular dystrophy, tardive -TMD
Dilated cardiomyopathy, 1H - (AD)
10.22
10486326
? - (2q14-q22)
Cardiomyopathy, dilated, 1H -CMD1H
Dilated cardiomyopathy, 1I - (AD)
10.23
10430757
DES (2q35)
desmin
Cardiomyopathy, dilated, 1I -CMD1I
Myopathy, desmin-related, cardioskeletal -DES
Dilated cardiomyopathy, 1J - (AD)
10.24
15735644
EYA4 (6q23-24)
eyes absent 4
Cardiomyopathy, dilated, 1J -CMD1J
Deafness, autosomal dominant nonsyndromic sensorineural 10 -DFNA10
Dilated cardiomyopathy, 1K - (AD)
10.25
11085912
? - (6q12-q16)
Cardiomyopathy, dilated, 1K -CMD1K
Dilated cardiomyopathy, 1L - (AD)
10.26
10974018
SGCD (5q33-q34)
delta-sarcoglycan
Cardiomyopathy, dilated, 1L -CMD1L
Cardiomyopathy, dilated, 1L -CMD1L
Muscular dystrophy, limb-girdle, type 2F -LGMD2F
Dilated cardiomyopathy, 1M - (AD)
10.27
12507422
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)
Cardiomyopathy, dilated, 1M -CMD1M
Dilated cardiomyopathy, 1N - (AD)
10.28
12507422
TCAP (17q12)
telethonin
Cardiomyopathy, dilated, 1N -CMD1N
Muscular dystrophy, limb-girdle, type 2G -LGMD2G
Dilated cardiomyopathy, 1O - (AD)
10.29
15034580
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)
Cardiomyopathy, dilated, 1O -CMD1O
Dilated cardiomyopathy, 1P - (AD)
10.30
12610310
12639993
6432188
PLN (6q22.1)
phospholamban
Cardiomyopathy, dilated, 1P -CMD1P
Cardiomyopathy, idiopathic dilated -PLN
Dilated cardiomyopathy, 1Q - (AD)
10.31
16228230
? - (7q22.3-q31.1)
Cardiomyopathy, dilated, 1Q -CMD1Q
Dilated cardiomyopathy, 1R - (AD)
10.32
10330430
9563954
ACTC1 (15q11-q14)
actin, alpha, cardiac muscle precursor
Asymmetric septal hypertrophy -ASH
Cardiomyopathy, dilated, 1R -CMD1R
Cardiomyopathy, familial hypertrophic -CMH1
Dilated cardiomyopathy, 1S - (AD)
10.33
11106718
MYH7 (14q12)
myosin, heavy polypeptide 7, cardiac muscle, beta
Cardiomyopathy, dilated, 1A -CMD1A
Cardiomyopathy, dilated, 1S -CMD1S
cardiomyopathy, dilated, 1s, included -CMD1S
cardiomyopathy, familial hypertrophic, 1, included -CMH1
Familial hypertrophic cardiomyopathy -FHC1
Myopathy, distal 1 -MPD1
Myosin storage myopathy -MYH7
Dilated cardiomyopathy, 1T - (AD)
10.34
16247757
TMPO (12q22)
lamina-associated polypeptide 2
Cardiomyopathy, dilated, 1T -CMT1T
Dilated cardiomyopathy, 1W - (AD)
10.35
11815424
16236538
VCL (10q22.1-q23)
vinculin
Cardiomyopathy, dilated, 1W -CMD1W
Metavinculin, included -VCL
Dilated cardiomyopathy, 1Z - (AD)
10.36
15542288
TNNC1 (3p21.3-p14.3)
slow troponin C
Cardiomyopathy, dilated, 1Z -CMD1Z
Dilated cardiomyopathy due to fukutin defect - (AR)
10.37
17036286
FCMD (9q31-q33)
fukutin
cardiomyopathy, dilated, 1x -CMD1X
Muscular dystrophy, Fukuyama congenital -FCMD
Muscular dystrophy, limb-girdle, type 2L -LGMD2L
Walker-Warburg syndrome -WWS
Dilated cardiomyopathy due to tafazzin defect - (XR)
10.38
7616547
TAZ (Xq28)
tafazzin
Barth syndrome -BTHS
Cardiomyopathy, X-linked dilated -CMD3A
Endocardial fibroelastosis-2 -G4.5
Noncompaction of left ventricular myocardium, isolated -INVM
Dilated cardiomyopathy due to dystrophin defect - (XR)
10.39
8361506
8789442
DMD (Xp21.2)
dystrophin
Becker muscular distrophy -BMD
Cardiomyopathy, Dilated, 3B -CMD3B
Cardiomyopathy, dilated, X-linked -XLCM
Duchenne muscular dystrophy -DMD
Dilated cardiomyopathy due to laminin-alpha4 defect - (AD)
10.40
17646580
LAMA4 (6q21)
laminin alpha 4
dilated cardiomyopathy due to laminin-alpha4 defect -LAMA4
Dilated cardiomyopathy due to integrin-linked kinase defect - (AD)
10.41
17646580
ILK (11p15.5-p15.4)
integrin-linked kinase
dilated cardiomyopathy due to integrin-linked kinase defect -ILK
Dilated cardiomyopathy due to myopalladin defect - (AD)
10.42
18006477
MYPN (10q21.1)
myopalladin
-
Dilated cardiomyopathy due to ribonucleic acid binding protein defect - (AD)
10.43
19712804
RBM20 (10q25.3)
RNA binding motif protein 20
-
Dilated cardiomyopathy due to cardiac ankyrin repeat protein defect - (AD)
10.44
19525294
19608030
ANKRD1 (10q23.33)
ankyrin repeat domain 1 (cardiac muscle)
-
Dilated cardiomyopathy due to cardiac troponin I - (AD)
10.45
19590045
TNNI3 (19q13.4)
troponin I, cardiac
Cardiomyopathy, familial hypertrophic -CMH7
Cardiomyopathy, familial restrictive -RCM
Dilated cardiomyopathy due to alpha-myosin heavy chain - (AD)
10.46
15998695
MYH6 (14q12)
myosin heavy chain 6
Asymetric septal hypertrophy, hereditary -ASH
Cardiomyopathy, familial hypertrophic -CMH
Restrictive cardiomyopathy, 1 - (AD)
10.47
12531876
TNNI3 (19q13.4)
troponin I, cardiac
Cardiomyopathy, familial hypertrophic -CMH7
Cardiomyopathy, familial restrictive -RCM
Restrictive cardiomyopathy, 2 - ( )
10.48
16061566
? - (10)
Restrictive cardiomyopathy, 2 -RCM2
Pompe disease Glycogenosis, generalized, cardiac form (early and late onset) - (AR)
10.49
13954110
GAA (17q25.2-q25.3)
acid alpha-glucosidase preproprotein
Glycogen storage disease II -GSDII
Cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) - (XR)
10.50
1998334
8630491
TAZ (Xq28)
tafazzin
Barth syndrome -BTHS
Cardiomyopathy, X-linked dilated -CMD3A
Endocardial fibroelastosis-2 -G4.5
Noncompaction of left ventricular myocardium, isolated -INVM
Noncompaction of left ventricular myocardium with congenital heart defects - (AD)
10.51
11238270
DTNA (18q12)
dystrobrevin, alpha
Left ventricular noncompaction with congenital heart defects -
Left ventricular noncompaction, familial isolated -LVNC
Cardiovalvular dysplasia, X-linked (Myxomatous valvular dystrophy) - (XR)
10.52
17190868
9497244
FLNA (Xq28)
filamin A, alpha (actin binding protein 280)
cardiac valvular dysplasia, x-linked -CVD1
MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED -XMVD
Arrhythmogenic right ventricular dysplasia, 1 - (AD)
10.53
15639475
7951245
TGFB3 (14q24.3)
transforming growth factor, beta 3
Arrhythmogenic right ventricular dysplasia, 1 -TGFB3
Arrhythmogenic right ventricular dysplasia, familial, 1 -ARVD1
Arrhythmogenic right ventricular dysplasia, 2 - (AD)
10.54
11159936
7951245
RYR2 (1q42.1-q43)
ryanodine receptor 2
Arrhythmogenic right ventricular cardiomyopathy 2 -ARVC2
Arrhythmogenic right ventricular dysplasia 2 -ARVD2
Ventricular tachycardia, catecholaminergic polymorphic -CPVT
Ventricular tachycardia, stress-induced polymorphic -VTSIP
Arrhythmogenic right ventricular dysplasia, 3 - (AD)
10.55
8824801
? - (14q12-q22)
Arrhythmogenic right ventricular cardiomyopathy 3 -ARVC3
Arrhythmogenic right ventricular dysplasia-3 -ARVD3
Arrhythmogenic right ventricular dysplasia, 4 - (AD)
10.56
9344647
? - (2q32.1-q32.3)
Arrhythmogenic right ventricular cardiomyopathy 4 -ARVC4
Arrhythmogenic right ventricular dysplasia, familial, 4 -ARVD4
Arrhythmogenic right ventricular dysplasia, 5 - (AD)
10.57
18313022
9860777
TMEM43 (3p25.1)
transmembrane protein 43
arrhythmogenic right ventricular dysplasia, familial, 5 -ARVD5
Arrhythmogenic right ventricular dysplasia, 6 - (AD)
10.58
10631146
? - (10p14-p12)
Arrhythmogenic right ventricular cardiomyopathy 6 -ARVC6
Arrhythmogenic right ventricular dysplasia, familial, 6 -ARVD6
Arrhythmogenic right ventricular dysplasia , 7 - ( )
10.59
10553984
? - (10q22.3)
Arrhythmogenic right ventricular dysplasia , 7 -ARVD7
Arrhythmogenic right ventricular dysplasia, 8 - ( )
10.60
12373648
DSP (6p24)
desmoplakin
Arrhythmogenic right ventricular dysplasia, 8 -ARVD8
Arrhythmogenic right ventricular dysplasia, 9 - ( )
10.61
15489853
PKP2 (12p11)
plakophilin 2
Arrhythmogenic right ventricular dysplasia, 9 -ARDV9
Arrhythmogenic right ventricular dysplasia, 10 - (AD)
10.62
1677357
DSG2 (18q12.1)
desmoglein 2
Arrhythmogenic right ventricular dysplasia, 10 -ARVD10
Arrhythmogenic right ventricular dysplasia, 11 - (AD)
10.63
17033975
DSC2 (18q12.1)
desmocollin 2
Arrhythmogenic right ventricular dysplasia, 11 -ARVD11
Arrhythmogenic right ventricular dysplasia, 12 - (AD)
10.64
17924338
JUP (17q21)
junction plakoglobin
arrhythmogenic right ventricular dysplasia, familial, 12 -ARVD12
naxos disease -
Ventricular tachycardia, catecholaminergic polymorphic, dominant - (AD)
10.65
10588221
11157710
11208676
RYR2 (1q42.1-q43)
ryanodine receptor 2
Arrhythmogenic right ventricular cardiomyopathy 2 -ARVC2
Arrhythmogenic right ventricular dysplasia 2 -ARVD2
Ventricular tachycardia, catecholaminergic polymorphic -CPVT
Ventricular tachycardia, stress-induced polymorphic -VTSIP
Ventricular tachycardia, catecholaminergic polymorphic, recessive - (AR)
10.66
11704930
CASQ2 (1p13.3-p11)
calsequestrin 2 (cardiac muscle)
ventricular tachycardia, catecholaminergic polymorphi -CPVT
Naxos disease - (AR)
10.67
10902626
JUP (17q21)
junction plakoglobin
arrhythmogenic right ventricular dysplasia, familial, 12 -ARVD12
naxos disease -
Long QT syndrome 1 - (AD)
10.68
8528244
KCNQ1 (11p15.5)
potassium voltage-gated channel, KQT-like subfamily, member 1
Atrial fibrillation, familial, 1 -ATFB1
jervell and lange-nielsen syndrome -JLNS1
Long QT syndrome-1 -LQT1
Romano-Ward syndrome -RWS
Long QT syndrome 2 - (AD)
10.69
7889573
KCNH2 (7q35-q36)
voltage-gated potassium channel, subfamily H, member 2
Long QT syndrome-2 -LQT2
Short qt syndrome 1 -SQT1
Long QT syndrome 3 - (AD)
10.70
7889574
SCN5A (3p21)
voltage-gated sodium channel type V alpha
Brugada syndrome -SCN5A
Cardiac conduction defect, progressive -PCCD
Cardiomyopathy, dilated, 1E -CMD1E
Hereditary bundle branch system defect -HBBD
Long QT syndrome-3 -LQT3
Progressive familial heart block, type I -PFHBI
Sick Sinus Syndrome 1, autosomal recessive -SSS1
Ventricular fibrillation, idiopathic -IVF
Ventricular fibrillation, paroxysmal familial -VF
Long QT syndrome 4 - (AD)
10.71
12571597
15178757
7485162
ANK2 (4q25-q27)
ankyrin 2
Long QT syndrome-4 -LQT4
Long QT syndrome 5 - (AD)
10.72
9354783
9354802
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
Long QT syndrome 6 - (AD)
10.73
10219239
KCNE2 (21q22.12)
potassium voltage-gated channel, Isk-related family, member 2
Atrial fibrillation, 1 -ATFB1
Long QT syndrome-6 -LQT6
Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (AD)
10.74
11371347
KCNJ2 (17q23)
potassium inwardly-rectifying channel J2
Long QT syndrome-7 -LQT7
Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom -ATS
Long QT syndrome 8 (Timothy syndrome) - (AD)
10.75
15863612
CACNA1C (12p13.3)
calcium channel, voltage-dependent, L type, alpha 1C subunit
brugada syndrome 3 -
timothy syndrome -LQT8
Long QT syndrome 9 - (AD)
10.76
17060380
CAV3 (3p25)
caveolin 3
cardiomyopathy, familial hypertrophic -CMH
Creatine phosphokinase, elevated serum -CPK
Hyperckemia, idiopathic -CAV3
Muscular dystrophy, limb-girdle, type IC -LGMD1C
Rippling muscle disease -RMD2
Short QT syndrome 1 - (AD)
10.78
14676148
KCNH2 (7q35-q36)
voltage-gated potassium channel, subfamily H, member 2
Long QT syndrome-2 -LQT2
Short qt syndrome 1 -SQT1
Short QT syndrome 2 - (AD)
10.79
15159330
KCNQ1 (11p15.5)
potassium voltage-gated channel, KQT-like subfamily, member 1
Atrial fibrillation, familial, 1 -ATFB1
jervell and lange-nielsen syndrome -JLNS1
Long QT syndrome-1 -LQT1
Romano-Ward syndrome -RWS
Short QT syndrome 3 - (AD)
10.80
15761194
KCNJ2 (17q23)
potassium inwardly-rectifying channel J2
Long QT syndrome-7 -LQT7
Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom -ATS
Jervell and Lange-Nielsen cardio-auditory syndrome - (AR)
10.81
9020846
9354783
KCNQ1 (11p15.5)
potassium voltage-gated channel, KQT-like subfamily, member 1
Atrial fibrillation, familial, 1 -ATFB1
jervell and lange-nielsen syndrome -JLNS1
Long QT syndrome-1 -LQT1
Romano-Ward syndrome -RWS
Jervell and Lange-Nielsen cardio-auditory syndrome - (AR)
10.82
9328483
KCNE2 (21q22.12)
potassium voltage-gated channel, Isk-related family, member 2
Atrial fibrillation, 1 -ATFB1
Long QT syndrome-6 -LQT6
Atrial fibrillation, 1 - (AD)
10.83
12644968
KCNQ1 (11p15.5)
potassium voltage-gated channel, KQT-like subfamily, member 1
Atrial fibrillation, familial, 1 -ATFB1
jervell and lange-nielsen syndrome -JLNS1
Long QT syndrome-1 -LQT1
Romano-Ward syndrome -RWS
Atrial fibrillation, 2 - (AD)
10.84
9070470
? - (10q22-q24)
Atrial fibrillation, 2 -ATFB2
Atrial fibrillation, 3 - (AD)
10.85
12782570
KCNQ1 (11p15.5)
potassium voltage-gated channel, KQT-like subfamily, member 1
Atrial fibrillation, familial, 1 -ATFB1
jervell and lange-nielsen syndrome -JLNS1
Long QT syndrome-1 -LQT1
Romano-Ward syndrome -RWS
Atrial fibrillation, 4 - (AD)
10.86
16790700
KCNE2 (21q22.12)
potassium voltage-gated channel, Isk-related family, member 2
Atrial fibrillation, 1 -ATFB1
Long QT syndrome-6 -LQT6
Atrial fibrillation, 5 - (AD)
10.87
17603472
? - (4q25)
atrial fibrillation, familial, 5 -ATFB5
Atrial fibrillation, 6 - (AD)
10.88
18614783
NPPA (1p36)
natriuretic peptide precursor A
atrial fibrillation, familial, 6 -ATFB6
Atrial fibrillation, 7 - (AD)
10.89
16772329
19343045
KCNA5 (12p13)
potassium voltage-gated channel, shaker-related subfamily, member 5
atrial fibrillation, familial -ATFB7
Atrial fibrillation, 8 - (AD)
10.90
19597491
19597492
? - (16q22)
atrial fibillation, familial, 8 -ATFB8
Atrial fibrillation - (AD)
10.91
16790700
GJA5 (1q21.1)
connexin 40
atrial fibrillation, familial, 1 -ATFB1
Atrial standstill - (AD)
10.92
12522116
GJA5 (1q21.1)
connexin 40
atrial fibrillation, familial, 1 -ATFB1
Brugada syndrome 1 - (AD)
10.93
10590249
10690282
SCN5A (3p21)
voltage-gated sodium channel type V alpha
Brugada syndrome -SCN5A
Cardiac conduction defect, progressive -PCCD
Cardiomyopathy, dilated, 1E -CMD1E
Hereditary bundle branch system defect -HBBD
Long QT syndrome-3 -LQT3
Progressive familial heart block, type I -PFHBI
Sick Sinus Syndrome 1, autosomal recessive -SSS1
Ventricular fibrillation, idiopathic -IVF
Ventricular fibrillation, paroxysmal familial -VF
Brugada syndrome 2 - (AD)
10.94
11839626
17967976
17967977
GPD1L (3p22.3)
glycerol-3-phosphate dehydrogenase 1-like
brugada syndrome 2 -
Glycogen storage disease II (Pompe disease) - (AR)
10.95
2203258
7668832
GAA (17q25.2-q25.3)
acid alpha-glucosidase preproprotein
Glycogen storage disease II -GSDII
Brugada syndrome 3 - (AD)
10.96
17224476
CACNA1C (12p13.3)
calcium channel, voltage-dependent, L type, alpha 1C subunit
brugada syndrome 3 -
timothy syndrome -LQT8
Brugada syndrome 4 - (AD)
10.97
17224476
CACNB2 (10p12)
calcium channel, voltage-dependent, beta 2 subunit
brugada syndrome 4 -
Sick sinus syndrome, dominant - (AD)
10.98
16407510
HCN4 (15q24.1)
hyperpolarization activated cyclic nucleotide-gated potassium channel 4
familial sinusal bradycardia -FSBD
Sick Sinus Syndrome 2, autosomal dominant -SSS2
Sick sinus syndrome, recessive - (AR)
10.99
14523039
SCN5A (3p21)
voltage-gated sodium channel type V alpha
Brugada syndrome -SCN5A
Cardiac conduction defect, progressive -PCCD
Cardiomyopathy, dilated, 1E -CMD1E
Hereditary bundle branch system defect -HBBD
Long QT syndrome-3 -LQT3
Progressive familial heart block, type I -PFHBI
Sick Sinus Syndrome 1, autosomal recessive -SSS1
Ventricular fibrillation, idiopathic -IVF
Ventricular fibrillation, paroxysmal familial -VF