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

10. HEREDITARY CARDIOMYOPATHIES (See references) - (download list of genes)
10-A NON-ARRHYTHMOGENIC CARDIOMYOPATHIES
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
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
* Cardiomyopathy, dilated, 1EE - CMD1EE
* Familial hypertrophic cardiomyopathy, 14 - CMH14
* Cardiomyopathy, familial hypertrophic 1 - CMH1
* Cardiomyopathy, dilated, 1S - CMD1S
* myopathy, congenital, with fiber-type disproportion - CFTD
* Myopathy, distal 1 - MPD1
* cardiomyopathy, familial hypertrophic, 1, included - CMH1
* Myosin storage myopathy
Familial hypertrophic cardiomyopathy, 2 - (AD)
10.2
7493025
7889574
7981753
8205619
8528244
TNNT2 (1q32)
Troponin T2, cardiac
* Cardiomyopathy, familial hypertrophic, 2 - CMH2
* Cardiomyopathy, dilated, 1D - CMD1D
Familial hypertrophic cardiomyopathy, 3 - (AD)
10.3
8205619
TPM1 (15q22)
Tropomyosin 1 (alpha)
* Cardiomyopathy, dilated, 1Y - CMD1Y
* Cardiomyopathy, familial hypertrophic, 3 - CMH3
Familial hypertrophic cardiomyopathy, 4 - (AD)
10.4
7493025
7493026
8358441
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C
* Cardimyopathy, dilated, 1A - CMD1A
* Dilated cardiomyopathy related to MYBPC3
* congenital skeletal myopathy and fatal cardiomyopathy
* Cardiomyopathy, familial hypertrophic, 4 - CMH4
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
* glycogen storage disease of heart, lethal congenital
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
* Hereditary myopathy with early respiratory failure - HMERF
* Cardiomyopathy, familial hypertrophic, 9 - CMH9
* Congenital myopathy with fatal cardiomyopathy
* Cardiomyopathy, dilated, 1G - CMD1G
* Centronuclear myopathy related to TTN
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory
* Tibial muscular dystrophy, tardive - TMD
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J
Familial hypertrophic cardiomyopathy, 10 - (AD)
10.9
8673105
MYL2 (12q23-q24.3)
Myosin light chain 2
* Cardiomyopathy, familial hypertrophic, 10 - CMH10
* Cardiomyopathy, hypertrophic, mid-left ventricular chamber type - MYL2
Familial hypertrophic cardiomyopathy, 11 - (AD)
10.10
10330430
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor
* Cardiomyopathy, dilated, 1R - CMD1R
* Cardiomyopathy, familial hypertrophic, 11 - CMH11
* Asymmetric septal hypertrophy - ASH
Familial hypertrophic cardiomyopathy, 12 - (AD)
10.11
18505755
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)
* Cardiomyopathy, dilated, 1M - CMD1M
* Cardiomyopathy, familial hypertrophic, 12 - CMH12
Familial hypertrophic cardiomyopathy, 13 - (AD)
10.12
18572189
TNNC1 (3p21.3-p14.3)
Slow troponin C
* Cardiomyopathy, dilated, 1Z - CMD1Z
* Familial hypertrophic cardiomyopathy, 13 - CMH13
Familial hypertrophic cardiomyopathy, 14 - (AD)
10.13
15998695
MYH6 (14q12)
Myosin heavy chain 6
* Cardiomyopathy, dilated, 1EE - CMD1EE
* Familial hypertrophic cardiomyopathy, 14 - CMH14
* Cardiomyopathy, familial hypertrophic 1 - CMH1
Hypertrophic cardiomyopathy related to vinculin - (-)
10.14
16236538
VCL (10q22.1-q23)
Vinculin
* Cardiomyopathy, dilated, 1W - CMD1W
* Cardiomyopathy, familial hypertrophic, 15 - CMH15
Hypertrophic cardiomyopathy
10.15
11733062
MYLK2 (20q13.31)
Myosin light chain kinase 2
* cardiomyopathy, familial hypertrophic - CMH
Hypertrophic cardiomyopathy
10.16
14672715
15580566
CAV3 (3p25)
Caveolin 3
* Distal myopathy related to caveolin
* cardiomyopathy, familial hypertrophic - CMH
* Creatine phosphokinase, elevated serum - CPK
* Rippling muscle disease - RMD2
* Long QT syndrome 9 - LQT9
* Muscular dystrophy, limb-girdle, type IC - LGMD1C
* Hyperckemia, idiopathic
Hypertrophic cardiomyopathy related to myozenin 2 - (AD)
10.17
17347475
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein
* Hypertrophic cardiomyopathy related to myozenin 2
* Cardiomyopathy, familial hypertrophic, 16 - CMH16 - CMH16
Hypertrophic cardiomyopathy related to junctophilin - (AD)
10.18
17476457
17509612
JPH2 (20q13.12)
Junctophilin-2
* Hypertrophic cardiomyopathy related to junctophilin
* Cardiomyopathy, familial hypertrophic, 17 - CMH17
Hypertrophic cardiomyopathy related to phospholamban - (AD)
10.19
12705874
21167350
PLN (6q22.1)
Phospholamban
* Hypertrophic cardiomyopathy related to phospholamban
* Cardiomyopathy, familial hypertrophic, 18 - CMH18
* Cardiomyopathy, dilated, 1P - CMD1P
Hypertrophic cardiomyopathy related to nexilin - (AD)
10.20
20970104
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)
* Hypertrophic cardiomyopathy related to nexilin
* Cardiomyopathy, familial hypertrophic 20 - CMH20
* Cardiomyopathy, dilated, 1CC - CMD1CC
Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein - (AD)
10.21
19608031
ANKRD1 (10q23.33)
Ankyrin repeat domain 1 (cardiac muscle)
* Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein
* Dilated cardiomyopathy related to cardiac ankyrin repeat protein
Hypertrophic cardiomyopathy related to actinin-2 - (AD)
10.22
20022194
ACTN2 (1q42-q43)
Actinin alpha2
* Hypertrophic cardiomyopathy related to actinin-2
* dilated cardiomyopathy, 1aa - CMD1AA
Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 - (AD)
10.23
21931170
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)
* patient with HCM and isolated respiratory complex I deficiency
* Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1
Mitochondrial hypertrophic cardiomyopathy related to TSFM - (AR)
10.24
17033963
TSFM (12q14.1)
Ts translation elongation factor, mitochondrial(M)
* Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3
Mitochondrial hypertrophic cardiomyopathy related to AARS2 - (AR)
10.25
21549344
AARS2 (6p21.1)
Alanyl-tRNA synthetase 2, mitochondrial(M)
* Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8
Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (AR)
10.26
21786366
MRPL3 (3q21-q23)
Mitochondrial ribosomal protein L3(M)
* Hypertrophic mitochondrial cardiomyopathy related to MRPL3
Hypertrophic cardiomyopathy, early-onset fatal related to COX15 - (AR)
10.27
12474143
COX15 (10q24)
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)
* Hypertrophic cardiomyopathy, early-onset fatal related to COX15
Mitochondrial hypertrophic cardiomyopathy related to MTO1 - (AR)
10.28
22608499
23929671
MTO1 (6q13)
Mitochondrial tRNA translation optimization 1(M)
* Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10
Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - (AR)
10.29
23315540
MRPL44 (2q36.1)
Mitochondrial ribosomal protein L44(M)
* Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16
Dilated cardiomyopathy, 1A - (AD)
10.30
10580070
LMNA (1q22)
Lamin A/C
* Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1
* Hutchinson-Gilford progeria syndrome - HGPS
* Mandibuloacral dysplasia with type a lipodystrophy - MADA
* restrictive dermopathy
* Lipodystrophy, familial partial, type 2 - FPLD2
* Cardiomyopathy, dilated, 1A - CMD1A
* Congenital muscular dystrophy due to LMNA defect (L-CMD)
* Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2
* Emery-Dreifuss Autosomal recessive - EDMD3
* Muscular dystrophy, limb-girdle, type 1B - LGMD1B
Dilated cardiomyopathy, 1AA - (AD)
10.31
14567970
ACTN2 (1q42-q43)
Actinin alpha2
* Hypertrophic cardiomyopathy related to actinin-2
* dilated cardiomyopathy, 1aa - CMD1AA
Dilated cardiomyopathy, 1B - (AD)
10.32
7573045
? - (9q13)
* Cardiomyopathy, familial dilated, 1 - CMD1B
Dilated cardiomyopathy, 1C - (AD)
10.33
14660611
14662268
8823300
LDB3 (10q22)
LIM domain binding 3
* myofibrillar myopathy ZASP-related - MFM4
* cardiomyopathy, dilated 1C - CMD1C
Dilated cardiomyopathy, 1D - (AD)
10.34
11106718
8521556
TNNT2 (1q32)
Troponin T2, cardiac
* Cardiomyopathy, familial hypertrophic, 2 - CMH2
* Cardiomyopathy, dilated, 1D - CMD1D
Dilated cardiomyopathy, 1E with conduction disorder and arrythmia - (AD)
10.35
15466643
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
Dilated cardiomyopathy, 1G - (AD)
10.36
10051295
11788824
11846417
TTN (2q31)
Titin
* Hereditary myopathy with early respiratory failure - HMERF
* Cardiomyopathy, familial hypertrophic, 9 - CMH9
* Congenital myopathy with fatal cardiomyopathy
* Cardiomyopathy, dilated, 1G - CMD1G
* Centronuclear myopathy related to TTN
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory
* Tibial muscular dystrophy, tardive - TMD
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J
Dilated cardiomyopathy, 1H - (AD)
10.37
10486326
? - (2q14-q22)
* Cardiomyopathy, dilated, 1H - CMD1H
Dilated cardiomyopathy, 1I - (AD)
10.38
10430757
DES (2q35)
Desmin
* Desmin-related myopathy - DRM
* Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R
* Dilated cardiomyopathy, 1I - CMD1I
* Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7
* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E
Dilated cardiomyopathy, 1J - (AD)
10.39
15735644
EYA4 (6q23-24)
Eyes absent 4
* Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10
* Cardiomyopathy, dilated, 1J - CMD1J
Dilated cardiomyopathy, 1K - (AD)
10.40
11085912
? - (6q12-q16)
* Cardiomyopathy, dilated, 1K - CMD1K
Dilated cardiomyopathy, 1L - (AD)
10.41
10974018
SGCD (5q33-q34)
Delta-sarcoglycan
* Dilated Cardiomyopathy, 1L - CMD1L
* Muscular dystrophy, limb-girdle, type 2F - LGMD2F
Dilated cardiomyopathy, 1M - (AD)
10.42
12507422
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)
* Cardiomyopathy, dilated, 1M - CMD1M
* Cardiomyopathy, familial hypertrophic, 12 - CMH12
Dilated cardiomyopathy, 1N - (AD)
10.43
12507422
TCAP (17q12)
Telethonin
* Dilated cardiomyopathy, 1N
* Congenital musuclar dystrophy with telethonin defect
* Muscular dystrophy, limb-girdle, type 2G - LGMD2G
Dilated cardiomyopathy, 1O - (AD)
10.44
15034580
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)
* Cardiomyopathy, dilated, 1O - CMD1O
Dilated cardiomyopathy, 1P - (AD)
10.45
12610310
12639993
6432188
PLN (6q22.1)
Phospholamban
* Hypertrophic cardiomyopathy related to phospholamban
* Cardiomyopathy, familial hypertrophic, 18 - CMH18
* Cardiomyopathy, dilated, 1P - CMD1P
Dilated cardiomyopathy, 1Q - (AD)
10.46
16228230
? - (7q22.3-q31.1)
* Cardiomyopathy, dilated, 1Q - CMD1Q
Dilated cardiomyopathy, 1R - (AD)
10.47
10330430
9563954
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor
* Cardiomyopathy, dilated, 1R - CMD1R
* Cardiomyopathy, familial hypertrophic, 11 - CMH11
* Asymmetric septal hypertrophy - ASH
Dilated cardiomyopathy, 1S - (AD)
10.48
11106718
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta
* Cardiomyopathy, dilated, 1S - CMD1S
* myopathy, congenital, with fiber-type disproportion - CFTD
* Myopathy, distal 1 - MPD1
* cardiomyopathy, familial hypertrophic, 1, included - CMH1
* Myosin storage myopathy
Dilated cardiomyopathy, 1T - (AD)
10.49
16247757
TMPO (12q22)
Lamina-associated polypeptide 2
* Cardiomyopathy, dilated, 1T - CMT1T
Dilated cardiomyopathy, 1U - (AD)
10.50
17186461
PSEN2 (1q42.13)
Presenilin 2
* Cardiomyopathy, dilated, 1W - CMD1U
Dilated cardiomyopathy, 1W - (AD)
10.51
11815424
VCL (10q22.1-q23)
Vinculin
* Cardiomyopathy, dilated, 1W - CMD1W
* Cardiomyopathy, familial hypertrophic, 15 - CMH15
Dilated cardiomyopathy, 1Y - (AD)
10.52
11273725
TPM1 (15q22)
Tropomyosin 1 (alpha)
* Cardiomyopathy, dilated, 1Y - CMD1Y
* Cardiomyopathy, familial hypertrophic, 3 - CMH3
Dilated cardiomyopathy, 1Z - (AD)
10.53
15542288
TNNC1 (3p21.3-p14.3)
Slow troponin C
* Cardiomyopathy, dilated, 1Z - CMD1Z
* Familial hypertrophic cardiomyopathy, 13 - CMH13
Dilated cardiomyopathy related to alpha-crystallin - (AD)
10.54
16483541
CRYAB (11q22.3-q23.1)
Crystallin, alpha B
* Dilated cardiomyopathy related to alpha-crystallin
* Myofibrillar myopathy, alpha-B crystallin related
* Myopathy, myofibrillar, 2 - MFM2
Dilated cardiomyopathy related to MYBPC3 - (AD)
10.55
20215591
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C
* Cardimyopathy, dilated, 1A - CMD1A
* Dilated cardiomyopathy related to MYBPC3
* congenital skeletal myopathy and fatal cardiomyopathy
* Cardiomyopathy, familial hypertrophic, 4 - CMH4
Dilated cardiomyopathy related to fukutin - (AR)
10.56
17036286
FKTN (9q31-q33)
Fukutin
* Walker-Warburg syndrome - WWS
* Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4
* fukuyama congenital muscular dystrophy - FCMD
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4
* Cardiomyopathy, dilated, 1X - CMD1X
* Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M
Dilated cardiomyopathy related to tafazzin - (XR)
10.57
7616547
TAZ (Xq28)
Tafazzin
* Barth syndrome - BTHS
* Endocardial fibroelastosis-2 - G4.5
* Noncompaction of left ventricular myocardium, isolated - INVM
* Cardiomyopathy, X-linked dilated - CMD3A
Dilated cardiomyopathy related to dystrophin - (XR)
10.58
8361506
8789442
DMD (Xp21.2)
Dystrophin
* Duchenne muscular dystrophy - DMD
* Becker muscular distrophy - BMD
* Cardiomyopathy, Dilated, 3B - CMD3B
* Cardiomyopathy, dilated, X-linked - XLCM
Dilated cardiomyopathy related to laminin-alpha4 - (AD)
10.59
17646580
LAMA4 (6q21)
Laminin alpha 4
* Dilated cardiomyopathy related to laminin-alpha4 - LAMA4
Dilated cardiomyopathy related to integrin-linked kinase - (AD)
10.60
17646580
ILK (11p15.5-p15.4)
Integrin-linked kinase
* Dilated cardiomyopathy related to integrin-linked kinase - ILK
Dilated cardiomyopathy related to myopalladin - (AD)
10.61
18006477
MYPN (10q21.1)
Myopalladin
* Dilated cardiomyopathy related to myopalladin
Dilated cardiomyopathy related to ribonucleic acid binding protein - (AD)
10.62
19712804
RBM20 (10q25.3)
RNA binding motif protein 20
* Cardiomyopathy, dilated, 1DD - CMD1DD
Dilated cardiomyopathy related to cardiac ankyrin repeat protein - (AD)
10.63
19525294
19608030
ANKRD1 (10q23.33)
Ankyrin repeat domain 1 (cardiac muscle)
* Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein
* Dilated cardiomyopathy related to cardiac ankyrin repeat protein
Dilated cardiomyopathy related to cardiac troponin I - (AD)
10.64
19590045
TNNI3 (19q13.4)
Troponin I, cardiac
* Cardiomyopathy, familial hypertrophic - CMH7
* Cardiomyopathy, familial restrictive - RCM
Dilated cardiomyopathy related to alpha-myosin heavy chain - (AD)
10.65
15998695
MYH6 (14q12)
Myosin heavy chain 6
* Cardiomyopathy, dilated, 1EE - CMD1EE
* Familial hypertrophic cardiomyopathy, 14 - CMH14
* Cardiomyopathy, familial hypertrophic 1 - CMH1
Dilated cardiomyopathy related to nexilin - (AD)
10.66
19881492
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)
* Hypertrophic cardiomyopathy related to nexilin
* Cardiomyopathy, familial hypertrophic 20 - CMH20
* Cardiomyopathy, dilated, 1CC - CMD1CC
Dilated cardiomyopathy related to nesprin-1 - (AD)
10.67
19944109
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
* Dilated cardiomyopathy related to nesprin-1
* Spinocerebellar ataxia, autosomal recessive 8 - SCAR8
* Emery-dreifuss muscular dystrophy 4 - EDMD4
Dilated cardiomyopathy related to MURC - (AD)
10.68
21642240
MURC (9q31.1)
Muscle-related coiled-coil protein
* Dilated cardiomyopathy related to MURC
Dilated Cardiomyopathy related to DOLK - (AR)
10.69
17273964
22242004
DOLK (9q34.13)
Dolichol kinase
* Dilated Cardiomyopathy related to DOLK - CDG1M
Dilated cardiomyopathy related to GATA1D - (AR)
10.70
21965549
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1
* Cardiomyopathy, dilated, 2B - CMD2B
* Dilated cardiomyopathy realted to GATAD1
Recessive neonatal isolated DC - (AR)
10.71
20551992
SDHA (5p15)
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)
* Recessive neonatal isolated DC
* Cardiomyopathy, dilated, 1GG - CMD1GG
Restrictive cardiomyopathy, 1 - (AD)
10.72
12531876
TNNI3 (19q13.4)
Troponin I, cardiac
* Cardiomyopathy, familial hypertrophic - CMH7
* Cardiomyopathy, familial restrictive - RCM
Restrictive cardiomyopathy, 2 - ( )
10.73
16061566
? - (10)
* Restrictive cardiomyopathy, 2 - RCM2
Pompe disease Glycogenosis, generalized, cardiac form (early and late onset) - (AR)
10.74
13954110
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein
* Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V
* Glycogen storage disease II - GSDII
Cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) - (XR)
10.75
1998334
8630491
TAZ (Xq28)
Tafazzin
* Barth syndrome - BTHS
* Endocardial fibroelastosis-2 - G4.5
* Noncompaction of left ventricular myocardium, isolated - INVM
* Cardiomyopathy, X-linked dilated - CMD3A
Left ventricular noncompaction - (AD)
10.76
11238270
DTNA (18q12)
Dystrobrevin, alpha
* Left ventricular noncompaction, familial isolated - LVNC
* Left ventricular noncompaction with congenital heart defects
Cardiovalvular dysplasia, X-linked (Myxomatous valvular dystrophy) - (XR)
10.77
17190868
9497244
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)
* Myxomatous valvular dystrophy, X-ninked - XMVD
* cardiac valvular dysplasia, x-linked - CVD1

10-B FOR ARRHYTHMOGENIC CARDIOMYOPATHIES AND RELATED SYNDROMES
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
Arrhythmogenic right ventricular dysplasia, 1 - (AD)
10.79
15639475
7951245
TGFB3 (14q24.3)
Transforming growth factor, beta 3
* Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1
* Arrhythmogenic right ventricular dysplasia, 1 - TGFB3
Arrhythmogenic right ventricular dysplasia, 2 - (AD)
10.80
11159936
7951245
RYR2 (1q42.1-q43)
Ryanodine receptor 2
* Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2
* Ventricular tachycardia, catecholaminergic polymorphic - CPVT
* Arrhythmogenic right ventricular dysplasia 2 - ARVD2
* Ventricular tachycardia, stress-induced polymorphic - VTSIP
Arrhythmogenic right ventricular dysplasia, 3 - (AD)
10.81
8824801
? - (14q12-q22)
* Arrhythmogenic right ventricular cardiomyopathy 3 - ARVC3
* Arrhythmogenic right ventricular dysplasia-3 - ARVD3
Arrhythmogenic right ventricular dysplasia, 4 - (AD)
10.82
9344647
? - (2q32.1-q32.3)
* Arrhythmogenic right ventricular cardiomyopathy 4 - ARVC4
* Arrhythmogenic right ventricular dysplasia, familial, 4 - ARVD4
Arrhythmogenic right ventricular dysplasia, 5 - (AD)
10.83
18313022
9860777
TMEM43 (3p25.1)
Transmembrane protein 43
* luma related muscular dystrophy
* arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5
* Emery-dreifuss muscular dystrophy 7 - EDMD7
Arrhythmogenic right ventricular dysplasia, 6 - (AD)
10.84
10631146
? - (10p14-p12)
* Arrhythmogenic right ventricular cardiomyopathy 6 - ARVC6
* Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6
Arrhythmogenic right ventricular dysplasia, 8 - ( )
10.85
12373648
DSP (6p24)
Desmoplakin
* Arrhythmogenic right ventricular dysplasia, 8 - ARVD8
Arrhythmogenic right ventricular dysplasia, 9 - ( )
10.86
15489853
PKP2 (12p11)
Plakophilin 2
* Arrhythmogenic right ventricular dysplasia, 9 - ARDV9
Arrhythmogenic right ventricular dysplasia, 10 - (AD)
10.87
1677357
DSG2 (18q12.1)
Desmoglein 2
* Arrhythmogenic right ventricular dysplasia, 10 - ARVD10
Arrhythmogenic right ventricular dysplasia, 11 - (AD)
10.88
17033975
DSC2 (18q12.1)
Desmocollin 2
* Arrhythmogenic right ventricular dysplasia, 11 - ARVD11
Arrhythmogenic right ventricular dysplasia, 12 - (AD)
10.89
17924338
JUP (17q21)
Junction plakoglobin
* arrhythmogenic right ventricular dysplasia, familial, 12 - ARVD12
* naxos disease
Arrhythmogenic right ventricular dysplasia, familial, 13 - (AD)
10.90
23136403
CTNNA3 (10q21.3)
Catenin alpha 3
* Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13
Ventricular tachycardia, catecholaminergic polymorphic, dominant - (AD)
10.91
10588221
11157710
11208676
RYR2 (1q42.1-q43)
Ryanodine receptor 2
* Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2
* Ventricular tachycardia, catecholaminergic polymorphic - CPVT
* Arrhythmogenic right ventricular dysplasia 2 - ARVD2
* Ventricular tachycardia, stress-induced polymorphic - VTSIP
Ventricular tachycardia, catecholaminergic polymorphic, recessive - (AR)
10.92
11704930
CASQ2 (1p13.3-p11)
Calsequestrin 2 (cardiac muscle)
* ventricular tachycardia, catecholaminergic polymorphi - CPVT
Naxos disease - (AR)
10.93
10902626
JUP (17q21)
Junction plakoglobin
* arrhythmogenic right ventricular dysplasia, familial, 12 - ARVD12
* naxos disease
Long QT syndrome 1 - (AD)
10.102
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
Long QT syndrome 2 - (AD)
10.103
7889573
KCNH2 (7q35-q36)
Voltage-gated potassium channel, subfamily H, member 2
* Short qt syndrome 1 - SQT1
* Long QT syndrome-2 - LQT2
Long QT syndrome 3 - (AD)
10.104
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
Long QT syndrome 4 - (AD)
10.105
12571597
15178757
7485162
ANK2 (4q25-q27)
Ankyrin 2
* Long QT syndrome-4 - LQT4
Long QT syndrome 5 - (AD)
10.106
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)
10.107
10219239
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2
* Atrial fibrillation, 4 - ATFB4
* Long QT syndrome-6 - LQT6
Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (AD)
10.108
11371347
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 8 (Timothy syndrome) - (AD)
10.109
15863612
CACNA1C (12p13.3)
Calcium channel, voltage-dependent, L type, alpha 1C subunit
* brugada syndrome 3
* Timothy syndrome - LQT8
Long QT syndrome 9 - (AD)
10.110
17060380
CAV3 (3p25)
Caveolin 3
* Distal myopathy related to caveolin
* cardiomyopathy, familial hypertrophic - CMH
* Creatine phosphokinase, elevated serum - CPK
* Rippling muscle disease - RMD2
* Long QT syndrome 9 - LQT9
* Muscular dystrophy, limb-girdle, type IC - LGMD1C
* Hyperckemia, idiopathic
Long QT syndrome 10 - (AD)
10.111
17592081
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit
* Long QT syndrome 10 - LQT10
Long QT syndrome 11 - (AD)
10.112
18093912
AKAP9 (7q21.2)
A kinase (PRKA) anchor protein (yotiao) 9
* Long QT syndrome 11 - LQT11
Long QT syndrome 12 - (AD)
10.113
18591664
SNTA1 (20q11.21)
Syntrophin, alpha 1
* Long QT syndrome 12 - LQT12
Long QT syndrome 13 - (AD)
10.114
20560207
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5
* Long QT syndrome 13 - LQT13
Short QT syndrome 1 - (AD)
10.115
14676148
KCNH2 (7q35-q36)
Voltage-gated potassium channel, subfamily H, member 2
* Short qt syndrome 1 - SQT1
* Long QT syndrome-2 - LQT2
Short QT syndrome 2 - (AD)
10.116
15159330
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
Short QT syndrome 3 - (AD)
10.117
15761194
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
Jervell and Lange-Nielsen cardio-auditory syndrome - (AR)
10.118
9020846
9354783
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
Jervell and Lange-Nielsen cardio-auditory syndrome - (AR)
10.119
9328483
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2
* Atrial fibrillation, 4 - ATFB4
* Long QT syndrome-6 - LQT6
Atrial fibrillation, 1 - (AD)
10.120
9070470
? - (10q22-q24)
* Atrial fibrillation, 1 - ATFB1
Atrial fibrillation, 2 - (AD)
10.121
12782570
? - (10q22-q24)
* Atrial fibrillation, 2 - ATFB2
Atrial fibrillation, 3 - (AD)
10.122
12782570
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
Atrial fibrillation, 4 - (AD)
10.123
16790700
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2
* Atrial fibrillation, 4 - ATFB4
* Long QT syndrome-6 - LQT6
Atrial fibrillation, 5 - (AD)
10.124
17603472
? - (4q25)
* atrial fibrillation, familial, 5 - ATFB5
Atrial fibrillation, 6 - (AD)
10.125
18614783
NPPA (1p36)
Natriuretic peptide precursor A
* atrial fibrillation, familial, 6 - ATFB6
Atrial fibrillation, 7 - (AD)
10.126
16772329
19343045
KCNA5 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 5
* atrial fibrillation, familial - ATFB7
Atrial fibrillation, 8 - (AD)
10.127
19597491
19597492
? - (16q22)
* atrial fibillation, familial, 8 - ATFB8
Atrial fibrillation, 9 - (AD)
10.128
15922306
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
Atrial fibrillation, 11 - (AD)
10.129
16790700
GJA5 (1q21.1)
Connexin 40
* atrial fibrillation, familial, 1 - ATFB1
Atrial standstill - (AD)
10.130
12522116
GJA5 (1q21.1)
Connexin 40
* atrial fibrillation, familial, 1 - ATFB1
Atrial fibrillation, 13 - (AD)
10.131
19808477
SCN1B (19q13.12)
Sodium channel, voltage-gated, type I, beta subunit
* Atrial fibrillation, 13 - ATFB13
* Brugada syndrome 5 - BRGDA5
Atrial fibrillation, 14 - (AD)
10.132
19808477
SCN2B (11q23.3)
Sodium channel, voltage-gated, type II, beta subunit
* Atrial fibrillation, 14 - ATFB14
Atrial fibrillation, 15 - (AR)
10.133
19070573
NUP155 (5p13.2)
Nucleoporin 155 kDa
* Atrial fibrillation, 15 - ATFB15
Brugada syndrome 1 - (AD)
10.134
10590249
10690282
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
Brugada syndrome 2 - (AD)
10.135
11839626
17967976
17967977
GPD1L (3p22.3)
Glycerol-3-phosphate dehydrogenase 1-like
* brugada syndrome 2
Brugada syndrome 3 - (AD)
10.136
17224476
CACNA1C (12p13.3)
Calcium channel, voltage-dependent, L type, alpha 1C subunit
* brugada syndrome 3
* Timothy syndrome - LQT8
Brugada syndrome 4 - (AD)
10.137
17224476
CACNB2 (10p12)
Calcium channel, voltage-dependent, beta 2 subunit
* brugada syndrome 4
Brugada syndrome 5 - (AD)
10.138
18464934
SCN1B (19q13.12)
Sodium channel, voltage-gated, type I, beta subunit
* Atrial fibrillation, 13 - ATFB13
* Brugada syndrome 5 - BRGDA5
Brugada syndrome 6 - (AD)
10.139
NR
KCNE3 (11q13-q14)
Potassium voltage-gated channel, Isk-related family, member 3
* Brugada syndrome 6 - BRGDA6
* Hypokalaemic periodic paralysis, type 3 - hypoKPP3
Brugada syndrome 7 - (AD)
10.140
20031595
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit
* Brugada syndrome 7 - BRGDA7
Sick sinus syndrome, recessive - (AR)
10.141
14523039
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
Sick sinus syndrome, dominant - (AD)
10.142
16407510
HCN4 (15q24.1)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4
* Sick Sinus Syndrome 2, autosomal dominant - SSS2
* familial sinusal bradycardia - FSBD