GeneTable

10. HEREDITARY CARDIOMYOPATHIES (Return to Disease group)

Disease phenotype

Item in this table

References

Gene symbol (chromosome)
protein

Familial hypertrophic cardiomyopathy, 1 - (AD)

10.1

Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, Levi T, Donis-Keller H, Seidman JG, Seidman CE. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. 1989 Nov 16;321(20):1372-8. (2811944)

Solomon SD, Geisterfer-Lowrance AA, Vosberg HP, Hiller G, Jarcho JA, Morton CC, McBride WO, Mitchell AL, Bale AE, McKenna WJ, et al. A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12. Am J Hum Genet. 1990 Sep;47(3):389-94. (1975475)

Tanigawa G, Jarcho JA, Kass S, Solomon SD, Vosberg HP, Seidman JG, Seidman CE. A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. Cell. 1990 Sep 7;62(5):991-8. (2144212)

MYH6 (14q12)

Myosin heavy chain 6

Familial hypertrophic cardiomyopathy, 2 - (AD)

10.2

Watkins H, MacRae C, Thierfelder L, Chou YH, Frenneaux M, McKenna W, Seidman JG, Seidman CE. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nat Genet. 1993 Apr;3(4):333-7. (7981753)

Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994 Jun 3;77(5):701-12. (8205619)

Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, Maron BJ, Seidman JG, Seidman CE. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet. 1995 Dec;11(4):434-7. (7493025)

Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995 Mar 10;80(5):805-11. (7889574)

Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996 Jan;12(1):17-23. (8528244)

TNNT2 (1q32)

Troponin T2, cardiac

Familial hypertrophic cardiomyopathy, 3 - (AD)

10.3

TPM1 (15q22)

Tropomyosin 1 (alpha)

Familial hypertrophic cardiomyopathy, 4 - (AD)

10.4

Carrier L, Hengstenberg C, Beckmann JS, Guicheney P, Dufour C, Bercovici J, Dausse E, Berebbi-Bertrand I, Wisnewsky C, Pulvenis D, et al. Related Articles, Links Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet. 1993 Jul;4(3):311-3. (8358441)

Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, Gautel M, Labeit S, James M, Beckmann J, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet. 1995 Dec;11(4):438-40. (7493026)

MYBPC3 (11p11.2)

Cardiac myosin binding protein-C

Familial hypertrophic cardiomyopathy, 6 - (AD)

10.5

Blair, E.; Redwood, C.; Ashrafian, H.; Oliveira, M.; Broxholme, J.; Kerr, B.; Salmon, A.; Ostman-Smith, I.; Watkins, H. : Mutations in the gamma-2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum. Molec. Genet. 10: 1215-1220, 2001. (11371514)

PRKAG2 (7q31)

Protein kinase, AMP-activated, gamma 2 non-catalytic subunit

Familial hypertrophic cardiomyopathy, 7 - (AD)

10.6

Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997 Aug;16(4):379-82. (9241277)

TNNI3 (19q13.4)

Troponin I, cardiac

Familial hypertrophic cardiomyopathy, 8 - (AD)

10.7

Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet. 1996 May;13(1):63-9. (8673105)

MYL3 (3p21.3-p21.2)

Myosin light chain 3

Familial hypertrophic cardiomyopathy, 9 - (AD)

10.8

Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun. 1999 Aug (10462489)

TTN (2q31)

Titin

Familial hypertrophic cardiomyopathy, 10 - (AD)

10.9

MYL2 (12q23-q24.3)

Myosin light chain 2

Familial hypertrophic cardiomyopathy, 11 - (AD)

10.10

Mogensen J, Klausen IC, Pedersen AK, Egeblad H, Bross P, Kruse TA, Gregersen N, Hansen PS, Baandrup U, Borglum AD. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 1999 May 15;103(10):R39-43. (10330430)

ACTC1 (15q11-q14)

Actin, alpha, cardiac muscle precursor

Familial hypertrophic cardiomyopathy, 12 - (AD)

10.11

Geier C, Gehmlich K, Ehler E, Hassfeld S, Perrot A, Hayess K, Cardim N, Wenzel K, Erdmann B, Krackhardt F, Posch MG, Osterziel KJ, Bublak A, N²§gele H, Scheffold T, Dietz R, Chien KR, Spuler S, F²ºrst DO, N²ºrnberg P, Ozcelik C. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Genet. 2008 Sep 15;17(18):2753-65. Epub 2008 May 27. (18505755)

CSRP3 (11p15.1)

Cysteine and glycine-rich protein 3 (cardiac LIM protein)

Familial hypertrophic cardiomyopathy, 13 - (AD)

10.12

Landstrom AP, Parvatiyar MS, Pinto JR, Marquardt ML, Bos JM, Tester DJ, Ommen SR, Potter JD, Ackerman MJ. Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J Mol Cell Cardiol. 2008 Aug;45(2):281-8. Epub 2008 May 11. (18572189)

TNNC1 (3p21.3-p14.3)

Slow troponin C

Familial hypertrophic cardiomyopathy, 14 - (AD)

10.13

Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, Graw SL, Feiger J, Zhu XZ, Dao D, Ferguson DA, Bristow MR, Mestroni L. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation. 2005 Jul 5;112(1):54-9. (15998695)

MYH6 (14q12)

Myosin heavy chain 6

Hypertrophic cardiomyopathy, 15 - (AD)

10.14

Vasile V C, Will M L, Ommen S R, Edwards W D, Olson T M, Ackerman M J. Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. Mol Genet Metab 2006; 87: 169-74. (16236538)

VCL (10q22.1-q23)

Vinculin

Familial hypertrophic cardiomyopathy, 1 - (AD, digenic)

10.15

Davis, J. S.; Hassanzadeh, S.; Winitsky, S.; Lin, H.; Satorius, C.; Vemuri, R.; Aletras, A. H.; Wen, H.; Epstein, N. D. : The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. Cell 107: 631-641, 2001. (11733062)

MYLK2 (20q13.31)

Myosin light chain kinase 2

Familial hypertrophic cardiomyopathy, 1 - (AD)

10.16

Hayashi, T.; Arimura, T.; Ueda, K.; Shibata, H.; Hohda, S.; Takahashi, M.; Hori, H.; Koga, Y.; Oka, N.; Imaizumi, T.; Yasunami, M.; Kimura, A.: Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 313: 178-184, 2004. (15580566)

Fulizio, L.; Nascimbeni, A. C.; Fanin, M.; Piluso, G.; Politano, L.; Nigro, V.; Angelini, C. : Molecular and muscle pathology in a series of caveolinopathy patients. Hum. Mutat. 25: 82-89, 2005. (14672715)

CAV3 (3p25.3)

Caveolin 3

Hypertrophic cardiomyopathy, 16 - (AD)

10.17

Osio A, Tan L, Chen SN, Lombardi R, Nagueh SF, Shete S, Roberts R, Willerson JT, Marian AJ. Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy. Circ Res. 2007 Mar 30;100(6):766-8. Epub 2007 Mar 8. (17347475)

MYOZ2 (4q26)

Myozenin 2, or calsarcin 1, a Z disk protein

Hypertrophic cardiomyopathy, 17 - (AD)

10.18

Landstrom AP, Weisleder N, Batalden KB, Bos JM, Tester DJ, Ommen SR, Wehrens XH, Claycomb WC, Ko JK, Hwang M, Pan Z, Ma J, Ackerman MJ. Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol. 2007 Jun;42(6):1026-35. Epub 2007 Apr 18. (17476457)

Matsushita Y, Furukawa T, Kasanuki H, Nishibatake M, Kurihara Y, Ikeda A, Kamatani N, Takeshima H, Matsuoka R. Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. J Hum Genet. 2007;52(6):543-8. Epub 2007 May 3. (17509612)

JPH2 (20q13.12)

Junctophilin-2

Hypertrophic cardiomyopathy, 18 - (AD)

10.19

Minamisawa S, Sato Y, Tatsuguchi Y, Fujino T, Imamura S, Uetsuka Y, Nakazawa M, Matsuoka R. Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2003 Apr 25;304(1):1-4. (12705874)

Landstrom AP, Adekola BA, Bos JM, Ommen SR, Ackerman MJ. PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. Am Heart J. 2011 Jan;161(1):165-71. (21167350)

PLN (6q22.1)

Phospholamban

Hypertrophic cardiomyopathy, 19 - (AD)

10.20

Chiu, C., Tebo, M., Ingles, J., Yeates, L., Arthur, J. W., Lind, J. M., Semsarian, C. Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. J. Molec. Cell. Cardiol. 43: 337-343, 2007. (17655857)

CALR3 (19p13.11)

Calreticulin 3

Hypertrophic cardiomyopathy, 20 - (AD)

10.21

Wang H, Li Z, Wang J, Sun K, Cui Q, Song L, Zou Y, Wang X, Liu X, Hui R, Fan Y. Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. Am J Hum Genet. 2010 Nov 12;87(5):687-93. Epub 2010 Oct 21. (20970104)

NEXN (1p32-p31 )

Nexilin(F-actin binding protein)

Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein - (AD)

10.22

Arimura T, Bos JM, Sato A, Kubo T, Okamoto H, Nishi H, Harada H, Koga Y, Moulik M, Doi YL, Towbin JA, Ackerman MJ, Kimura A. Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2009 Jul 21;54(4):334-42. (19608031)

ANKRD1 (10q23.31)

Ankyrin repeat domain 1 (cardiac muscle)

Hypertrophic cardiomyopathy, 21 - (AD)

10.23

Song, L., DePalma, S. R., Kharlap, M., Zenovich, A. G., Cirino, A., Mitchell, R., McDonough, B., Maron, B. J., Seidman, C. E., Seidman, J. G., Ho, C. Y. Novel locus for an inherited cardiomyopathy maps to chromosome 7. Circulation 113: 2186-2192, 2006. (16651466)

? - (7p12.1-q21)

Hypertrophic cardiomyopathy, 22 - (AD)

10.24

Purevjav, E., Arimura, T., Augustin, S., Huby, A.-C., Takagi, K., Nunoda, S., Kearney, D. L., Taylor, M. D., Terasaki, F., Bos, J. M., Ommen, S. R., Shibata, H., and 14 others. Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum. Molec. Genet. 21: 2039-2053, 2012. (22286171)

MYPN (10q21.1)

Myopalladin

Hypertrophic cardiomyopathy, 23 - (AD)

10.25

Chiu C, Bagnall RD, Ingles J, Yeates L, Kennerson M, Donald JA, Jormakka M, Lind JM, Semsarian C. Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. J Am Coll Cardiol. 2010 Mar 16;55(11):1127-35. (20022194)

ACTN2 (1q42-q43)

Actinin alpha2

Hypertrophic cardiomyopathy, 24 - (AD)

10.26

Theis, J. L., Bos, J. M., Bartleson, V. B., Will, M. L., Binder, J., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J. Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 351: 896-902, 2006. (17097056)

LDB3 (10q22)

LIM domain binding 3

Hypertrophic cardiomyopathy, 25 - (AD)

10.27

Hayashi, T., Arimura, T., Itoh-Satoh, M., Ueda, K., Hohda, S., Inagaki, N., Takahashi, M., Hori, H., Yasunami, M., Nishi, H., Koga, Y., Nakamura, H., and 10 others. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J. Am. Coll. Cardiol. 44: 2192-2201, 2004. (15582318)

TCAP (17q12)

Telethonin

Hypertrophic cardiomyopathy, 26 - (AD)

10.28

Valdes-Mas, R., Gutierrez-Fernandez, A., Gomez, J., Coto, E., Astudillo, A., Puente, D. A., Reguero, J. R., Alvarez, V., Moris, C., Leon, D., Martin, M., Puente, X. S., Lopez-Otin, C. Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. Nature Commun. 5: 5326, 2014. Note: Electronic Article. (25351925)

FLNC (7q32)

Filamin C, gamma (actin-binding protein - 280)

Hypertrophic cardiomyopathy, 27 - (AR)

10.29

Almomani, R., Verhagen, J. M. A., Herkert, J. C., Brosens, E., van Spaendonck-Zwarts, K. Y., Asimaki, A., van der Zwaag, P. A., Frohn-Mulder, I. M. E., Bertoli-Avella, A. M., Boven, L. G., van Slegtenhorst, M. A., van der Smagt, J. J., and 13 others. Biallelic truncating mutations in ALPK3 cause severe pediatric cardiomyopathy. J. Am. Coll. Cardiol. 67: 515-525, 2016. (26846950)

ALPK3 (15q25.3)

Alpha kinase 3

Hypertrophic cardiomyopathy, 28 - (AD)

10.30

Ochoa, J. P., Sabater-Molina, M., Garcia-Pinilla, J. M., Mogensen, J., Restrepo-Cordoba, A., Palomino-Doza, J., Villacorta, E., Martinez-Moreno, M., Ramos-Maqueda, J., Zorio, E., Pena-Pena, M. L., Garcia-Granja, P. E., and 38 others. Formin homology 2 domain containing 3 (FHOD3) is a genetic basis for hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 72: 2457-2467, 2018. (30442288)

FHOD3 (18q12.2)

Formin homology-2 domain-containing protein 3

Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies - (AR)

10.31

Hedberg-Oldfors, C., Abramsson, A., Osborn, D. P. S., Danielsson, O., Fazlinezhad, A., Nilipour, Y., Hubbert, L., Nennesmo, I., Visuttijai, K., Bharj, J., Petropoulou, E., Shoreim, A., and 12 others. Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. Hum. Molec. Genet. 28: 1919-1929, 2019. [PubMed: 30715372 (30715372)

KLHL24 (3q27.1)

Kelch-like 24

Mitochondrial complex 1 deficiency, nuclear type 11 - (AD)

10.32

Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. J Med Genet. 2011 Oct;48(10):691-7. (21931170)

NDUFAF1 (15q15.1)

NADH-ubiquinone oxidoreductase 1 alpha subcomplex

Combined oxydative phosphorylation deficiency 3 - (AR)

10.33

Smeitink, J. A. M., Elpeleg, O., Antonicka, H., Diepstra, H., Saada, A., Smits, P., Sasarman, F., Vriend, G., Jacob-Hirsch, J., Shaag, A., Rechavi, G., Welling, B., Horst, J., Rodenburg, R. J., van den Heuvel, B., Shoubridge, E. A. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am. J. Hum. Genet. 79: 869-877, 2006. (17033963)

TSFM (12q14.1)

Ts translation elongation factor, mitochondrial

Combined oxydative phosphorylation deficiency 8 - (AR)

10.34

Gotz, A., Tyynismaa, H., Euro, L., Ellonen, P., Hyotylainen, T., Ojala, T., Hamalainen, R. H., Tommiska, J., Raivio, T., Oresic, M., Karikoski, R., Tammela, O., Simola, K. O., Paetau, A., Tyni, T., Suomalainen, A. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am. J. Hum. Genet. 88: 635-642, 2011. (21549344)

AARS2 (6p21.1)

Alanyl-tRNA synthetase 2, mitochondrial

Combined oxydative phosphorylation deficiency 9 - (AR)

10.35

Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rötig A. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. Hum Mutat. 2011 Nov;32(11):1225-31. doi: 10.1002/humu.21562. Epub 2011 Sep 14. (21786366)

MRPL3 (3q21-q23)

Mitochondrial ribosomal protein L3

Combined oxydative phosphorylation deficiency 10 - (AR)

10.36

Ghezzi, D., Baruffini, E., Haack, T. B., Invernizzi, F., Melchionda, L., Dallabona, C., Strom, T. M., Parini, R., Burlina, A. B., Meitinger, T., Prokisch, H., Ferrero, I., Zeviani, M. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am. J. Hum. Genet. 90: 1079-1087, 2012. (22608499)

Baruffini, E., Dallabona, C., Invernizzi, F., Yarham, J. W., Melchionda, L., Blakely, E. L., Lamantea, E., Donnini, C., Santra, S., Vijayaraghavan, S., Roper, H. P., Burlina, A., and 9 others. MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum. Mutat. 34: 1501-1509, 2013. (23929671)

MTO1 (6q13)

Mitochondrial tRNA translation optimization 1

Combined oxydative phosphorylation deficiency 16 - (AR)

10.37

Carroll, C. J., Isohanni, P., Poyhonen, R., Euro, L., Richter, U., Brilhante, V., Gotz, A., Lahtinen, T., Paetau, A., Pihko, H., Battersby, B. J., Tyynismaa, H., Suomalainen, A. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. J. Med. Genet. 50: 151-59, 2013. (23315540)

MRPL44 (2q36.1)

Mitochondrial ribosomal protein L44

10.38

Antonicka, H.; Mattman, A.; Carlson, C. G.; Glerum, D. M.; Hoffbuhr, K. C.; Leary, S. C.; Kennaway, N. G.; Shoubridge, E. A. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am. J. Hum. Genet. 72: 101-114, 2003. (12474143)

SCO2 (22q13.33)

Cytochrome c oxidase assembly protein

Mitochondrial complex IV deficiency, nuclear type 6 - (AR)

10.39

COX15 (10q24)

COX15 homolog, cytochrome c oxidase assembly protein (yeast)

Dilated cardiomyopathy, 1A - (AD)

10.40

Fatkin, D.; MacRae, C.; Sasaki, T.; Wolff, M. R.; Porcu, M.; Frenneaux, M.; Atherton, J.; Vidaillet, H. J., Jr.; Spudich, S.; De Girolami, U.; Seidman, J. G.; Seidman, C. E. :Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. New Eng. J. Med. 341: 1715-1724, 1999. (10580070)

LMNA (1q22)

Lamin A/C

Dilated cardiomyopathy, 1B - (AD)

10.41

Krajinovic, M.; Pinamonti, B.; Sinagra, G.; Vatta, M.; Severini, G. M.; Milasin, J.; Falaschi, A.; Camerini, F.; Giacca, M.; Mestroni, L.; Heart Muscle Disease Study Group : Linkage of familial dilated cardiomyopathy to chromosome 9. Am. J. Hum. Genet. 57: 846-852, 1995. (7573045)

? - (9q13)

Dilated cardiomyopathy, 1C, with or without LVNC - (AD)

10.42

Bowles, K. R.; Gajarski, R.; Porter, P.; Goytia, V.; Bachinski, L.; Roberts, R.; Pignatelli, R.; Towbin, J. A. : Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. J. Clin. Invest. 98: 1355-1360, 1996. (14662268)

Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27. (14660611)

Arimura, T.; Hayashi, T.; Terada, H.; Lee, S.-Y.; Zhou, Q.; Takahashi, M.; Ueda, K.; Nouchi, T.; Hohda, S.; Shibutani, M.; Hirose, M.; Chen, J.; Park, J.-E.; Yasunami, M.; Hayashi, H.; Kimura, A. : A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J. Biol. Chem. 279: 6746-6752, 2004. (8823300)

LDB3 (10q22)

LIM domain binding 3

Dilated cardiomyopathy, 1D - (AD)

10.43

Durand J B, Bachinski L L, Bieling L C, Czernuszewicz G Z, Abchee A B, Yu Q T, Tapscott T, Hill R, Ifegwu J, Marian A J, Brugada R, Daiger S, Gregoritch J, Anderson J, Qui²±ones M, Towbin J, Roberts R. Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Circulation 1995; 92: 3387-9. (11106718)

Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000 Dec 7;343(23):1688-96. (8521556)

TNNT2 (1q32)

Troponin T2, cardiac

Dilated cardiomyopathy, 1E - (AD)

10.44

McNair, W. P., L. Ku, et al. (2004). "SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia." Circulation 110(15): 2163-7. (15466643)

SCN5A (3p22.2)

Voltage-gated sodium channel type V alpha

Dilated cardiomyopathy, 1G - (AD)

10.45

Siu, B. L.; Niimura, H.; Osborne, J. A.; Fatkin, D.; MacRae, C.; Solomon, S.; Benson, D. W.; Seidman, J. G.; Seidman, C. E. : Familial dilated cardiomyopathy locus maps to chromosome 2q31. Circulation 99: 1022-1026, 1999. (11846417)

Gerull, B.; Gramlich, M.; Atherton, J.; McNabb, M.; Trombitas, K.; Sasse-Klaassen, S.; Seidman, J. G.; Seidman, C.; Granzier, H.; Labeit, S.; Frenneaux, M.; Thierfelder, L. : Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nature Genet. 30: 201-204, 2002. (10051295)

Itoh-Satoh, M.; Hayashi, T.; Nishi, H.; Koga, Y.; Arimura, T.; Koyanagi, T.; Takahashi, M.; Hohda, S.; Ueda, K.; Nouchi, T.; Hiroe, M.; Marumo, F.; Imaizumi, T.; Yasunami, M.; Kimura, A. : Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 291: 385-393, 2002. (11788824)

TTN (2q31)

Titin

Dilated cardiomyopathy, 1H - (AD)

10.46

Jung, M., I. Poepping, Perrot A, Ellmer AE, Wienker TF, Dietz R, Reis A, Osterziel KJ.. (1999). Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22. Am J Hum Genet 65(4): 1068-77. (10486326)

? - (2q14-q22)

Dilated cardiomyopathy, 1I - (AD)

10.47

Li, D.; Tapscoft, T.; Gonzalez, O.; Burch, P. E.; Quinones, M. A.; Zoghbi, W. A.; Hill, R.; Bachinski, L. L.; Mann, D. L.; Roberts, R. : Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 100: 461-464, 1999. (10430757)

DES (2q35)

Desmin

Dilated cardiomyopathy, 1J - (AD)

10.48

Schonberger, J.; Wang, L.; Shin, J. T.; Kim, S. D.; Depreux, F. F. S.; Zhu, H.; Zon, L.; Pizard, A.; Kim, J. B.; MacRae, C. A.; Mungall, A. J.; Seidman, J. G.; Seidman, C. E. : Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nature Genet. 37: 418-422, 2005. (15735644)

EYA4 (6q23-24)

Eyes absent 4

Dilated cardiomyopathy, 1K - (AD)

10.49

Sylvius, N.; Tesson, F.; Gayet, C.; Charron, P.; Benaiche, A.; Mangin, L.; Peuchmaurd, M.; Duboscq-Bidot, L.; Feingold, J.; Beckmann, J. S.; Bouchier, C.; Komajda, M. : A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16. Am. J. Hum. Genet. 68: 241-246, 2001. (11085912)

? - (6q12-q16)

Dilated cardiomyopathy, 1L - (AD)

10.50

Tsubata, S.; Bowles, K. R.; Vatta, M.; Zintz, C.; Titus, J.; Muhonen, L.; Bowles, N. E.; Towbin, J. A. : Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J. Clin. Invest. 106: 655-662, 2000. (10974018)

SGCD (5q33-q34)

Delta-sarcoglycan

Dilated cardiomyopathy, 1M - (AD)

10.51

Knoll, R.; Hoshijima, M.; Hoffman, H. M.; Person, V.; Lorenzen-Schmidt, I.; Bang, M.-L.; Hayashi, T.; Shiga, N.; Yasukawa, H.; Schaper, W.; McKenna, W.; Yokoyama, M.; and 9 others : The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 111: 943-955, 2002. (12507422)

CSRP3 (11p15.1)

Cysteine and glycine-rich protein 3 (cardiac LIM protein)

Dilated cardiomyopathy, 1N - (AD)

10.52

TCAP (17q12)

Telethonin

Dilated cardiomyopathy, 1O - (AD)

10.53

Bienengraeber, M.; Olson, T. M.; Selivanov, V. A.; Kathmann, E. C.; O'Cochlain, F.; Gao, F.; Karger, A. B.; Ballew, J. D.; Hodgson, D. M.; Zingman, L. V.; Pang, Y.-P.; Alekseev, A. E.; Terzic, A. : ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic K(ATP) channel gating. Nature Genet. 36: 382-387, 2004. (15034580)

ABCC9 (16p13.1)

ATP-binding cassette, sub-family C (member 9)

Dilated cardiomyopathy, 1P - (AD)

10.54

Schmitt, J. P.; Kamisago, M.; Asahi, M.; Li, G. H.; Ahmad, F.; Mende, U.; Kranias, E. G.; MacLennan, D. H.; Seidman, J. G.; Seidman, C. E. : Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 299: 1410-1413, 2003. (12610310)

Haghighi, K.; Kolokathis, F.; Pater, L.; Lynch, R. A.; Asahi, M.; Gramolini, A. O.; Fan, G.-C.; Tsiapras, D.; Hahn, H. S.; Adamopoulos, S.; Liggett, S. B.; Dorn, G. W., II; MacLennan, D. H.; Kremastinos, D. T.; Kranias, E. G. :Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. J. Clin. Invest. 111: 869-876, 2003. (12639993)

Haghighi, K.; Kolokathis, F.; Gramolini, A. O.; Waggoner, J. R.; Pater, L.; Lynch, R. A.; Fan, G. C.; Tsiapras, D.; Parekh, R. R.; Dorn, G. W., 2nd; MacLennan, D. H.; Kremastinos, D. T.; Kranias, E. G.A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Nat. Acad. Sci. 103: 1388-1393, 2006. (6432188)

PLN (6q22.1)

Phospholamban

Dilated cardiomyopathy, 1Q - (AD)

10.55

Schonberger, J.; Kuhler, L.; Martins, E.; Lindner, T. H.; Silva-Cardoso, J.; Zimmer, M. : A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1. Hum. Genet. 118: 451-457, 2005.A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1. Hum. Genet. 118: 451-457, 2005. (16228230)

? - (7q22.3-q31.1)

Dilated cardiomyopathy, 1R - (AD)

10.56

Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998 May 1;280(5364):750-2. (10330430)

ACTC1 (15q11-q14)

Actin, alpha, cardiac muscle precursor

Dilated cardiomyopathy, 1S - (AD)

10.57

MYH7 (14q12)

Myosin, heavy polypeptide 7, cardiac muscle, beta

Dilated cardiomyopathy, 1T - (AD)

10.58

Taylor, M. R.; Slavov, D.; Gajewski, A.; Vlcek, S.; Ku, L.; Fain, P. R.; Carniel, E.; Di Lenarda, A.; Sinagra, G.; Boucek, M. M.; Cavanaugh, J.; Graw, S. L.; Ruegg, P.; Feiger, J.; Zhu, X.; Ferguson, D. A.; Bristow, M. R.; Gotzmann, J.; Foisner, R.; Mestroni, L. Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat 26, 566-74, 2005 (16247757)

TMPO (12q22)

Lamina-associated polypeptide 2

Dilated cardiomyopathy, 1U - (AD)

10.59

Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin RP, Jakobs PM, Litt M, Hershberger RE. Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet. 2006 Dec;79(6):1030-9. Epub 2006 Oct 24. (17186461)

PSEN1 (14q24.2)

Presenilin 1

Dilated cardiomyopathy, 1V - (AD)

10.60

PSEN2 (1q42.13)

Presenilin 2

Dilated cardiomyopathy, 1W - (AD)

10.61

Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM. Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation. 2002 Jan 29;105(4):431-7. (11815424)

VCL (10q22.1-q23)

Vinculin

Dilated cardiomyopathy related, 1X - (AR)

10.62

Murakami, T.; Hayashi, Y. K.; Noguchi, S.; Ogawa, M.; Nonaka, I.; Tanabe, Y.; Ogino, M.; Takada, F.; Eriguchi, M.; Kotooka, N.; Campbell, K. P.; Osawa, M.; Nishino, I. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness Ann Neurol, 2006, 60, 597-602 (17036286)

FKTN (9q31-q33)

Fukutin

Dilated cardiomyopathy, 1Y - (AD)

10.63

Olson TM, Kishimoto NY, Whitby FG, Michels VV. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol. 2001 Apr;33(4):723-32. (11273725)

TPM1 (15q22)

Tropomyosin 1 (alpha)

Dilated cardiomyopathy, 1Z - (AD)

10.64

Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, Burke M, Elliott PM, McKenna WJ. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2004 Nov 16;44(10):2033-40. (15542288)

TNNC1 (3p21.3-p14.3)

Slow troponin C

Dilated cardiomyopathy, 1AA, with or without LVNC - (AD)

10.65

Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab. 2003 Sep-Oct;80(1-2):207-15. (14567970)

ACTN2 (1q42-q43)

Actinin alpha2

Dilated cardiomyopathy, 1BB - (AD/AR)

10.66

Posch, M.G., Posch, M. J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A., Buttgereit, J., Dietz, R., Haverkamp, W., Ozcelik, C. A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. Mol. Genet. Metab. 95: 74-80, 2008. (18678517)

DSG2 (18q12.1)

Desmoglein 2

Dilated cardiomyopathy, 1CC - (AD)

10.67

Hassel, D., Dahme, T., Erdmann, J., Meder, B., Huge, A., Stoll, M., Just, S., Hess, A., Ehlermann, P. Weichenhan, D., Grimmler, M., Liptau, H., Hetzer, R., Regitz-Zagrosek, V., Fischer, C., Nurnberg, P., Schunkert, H., Katus, H. A., Rottbauer, W. Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Nature Med. 15: 1281-1288, 2009. (19881492)

NEXN (1p32-p31 )

Nexilin(F-actin binding protein)

Dilated cardiomyopathy, 1DD - (AD)

10.68

Brauch KM, Karst ML, Herron KJ, de Andrade M, Pellikka PA, Rodeheffer RJ, Michels VV, Olson TM. Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. J Am Coll Cardiol. 2009 Sep 1;54(10):930-41. (19712804)

RBM20 (10q25.3)

RNA binding motif protein 20

Dilated cardiomyopathy, 1EE - (AD)

10.69

MYH6 (14q12)

Myosin heavy chain 6

Dilated cardiomyopathy, 1FF - (AD)

10.70

Carballo S, Robinson P, Otway R, Fatkin D, Jongbloed JD, de Jonge N, Blair E, van Tintelen JP, Redwood C, Watkins H. Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ Res. 2009 Aug 14;105(4):375-82. Epub 2009 Jul 9. (19590045)

TNNI3 (19q13.4)

Troponin I, cardiac

Dilated cardiomyopathy, 1GG - (AR)

10.71

Levitas, A., Muhammad, E., Harel, G., Saada, A., Caspi, V. C., Manor, E., Beck, J. C., Sheffield, V., Parvari, R. Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Europ. J. Hum. Genet. 18: 1160-1165, 2010. (20551992)

SDHA (5p15)

Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)

Dilated cardiomyopathy, 1HH - (AD)

10.72

Norton, N., Li, D., Rieder, M. J., Siegfried, J. D., Rampersaud, E., Zuchner, S., Mangos, S., Gonzalez-Quintana, J., Wang, L., McGee, S., Reiser, J., Martin, E., Nickerson, D. A., Hershberger, R. E. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am. J. Hum. Genet. 88: 273-282, 2011. (21353195)

BAG3 (10q25.2-q26.2)

BCL2-associated athanogene 3

Dilated cardiomyopathy, 1II - (AD)

10.73

Inagaki N, Hayashi T, Arimura T, Koga Y, Takahashi M, Shibata H, Teraoka K, Chikamori T, Yamashina A, Kimura A. Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem Biophys Res Commun. 2006 Apr 7;342(2):379-86. Epub 2006 Feb 8. (16483541)

CRYAB (11q22.3-q23.1)

Crystallin, alpha B

Dilated cardiomyopathy, 1JJ - (AD)

10.74

Knoll R, Postel R, Wang J, Kratzner R, Hennecke G, Vacaru AM, Vakeel P, Schubert C, Murthy K, Rana BK, Kube D, Knoll G, Schafer K, Hayashi T, Holm T, Kimura A, Schork N, Toliat MR, Nurnberg P, Schultheiss H-P, Schaper W, Schaper J, Bos E, Hertog JD, van Eeden FJM, Peters PJ, Hasenfuss G, Chien KR and Bakkers J. Laminin-{alpha}4 and Integrin-Linked Kinase Mutations Cause Human Cardiomyopathy Via Simultaneous Defects in Cardiomyocytes and Endothelial Cells. Circulation 2007;116:515-525. (17646580)

LAMA4 (6q21)

Laminin alpha 4

Dilated cardiomyopathy, 1KK - (AD)

10.75

Duboscq-Bidot L, Xu P, Charron P, Neyroud N, Dilanian G, Millaire A, Bors V, Komajda M, Villard E. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 2008 Jan;77(1):118-25. Epub 2007 Sep 19. (18006477)

MYPN (10q21.1)

Myopalladin

Dilated cardiomyopathy, 1LL - (AD)

10.76

Arndt, A.-K., Schafer, S., Drenckhahn, J.-D., Sabeh, M. K., Plovie, E. R., Caliebe, A., Klopocki, E., Musso, G., Werdich, A. A., Kalwa, H., Heinig, M., Padera, R. F., and 13 others. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am. J. Hum. Genet. 93: 67-77, 2013. (23768516)

PRDM16 (1p36.32)

PR Domain-Containing Protein 16

Dilated cardiomyopathy, 1MM - (AD)

10.77

Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 2010 Apr;3(2):155-61. Epub 2010 Mar 9. (20215591)

MYBPC3 (11p11.2)

Cardiac myosin binding protein-C

Dilated cardiomyopathy, 1NN - (AD)

10.78

Dhandapany, P. S., Razzaque, M. A., Muthusami, U., Kunnoth, S., Edwards, J. J., Mulero-Navarro, S., Riess, I., Pardo, S., Sheng, J., Rani, D. S., Rani, B., Govindaraj, P., and 17 others. RAF1 mutations in childhood-onset dilated cardiomyopathy. Nature Genet. 46: 635-639, 2014. (24777450)

RAF1 (3p25.2)

V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1

Dilated cardiomyopathy, 1OO - (AD)

10.79

Shi, H.-Y., Xie, M.-S., Guo, Y.-H., Yang, C.-X., Gu, J.-N., Qiao, Q., Di, R.-M., Qiu, X.-B., Xu, Y.-J., Yang, Y.-Q. VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy. Europ. J. Med. Genet. 66: 104705, 2023. [PubMed: 36657711 (36657711)

VEZF1 (17q22)

Vascular endothelial zing finger 1

Dilated cardiomyopathy related to ILK - (AD)

10.80

ILK (11p15.5-p15.4)

Integrin-linked kinase

Dilated cardiomyopathy related to ANKRD1 - (AD)

10.81

Duboscq-Bidot L, Charron P, Ruppert V, Fauchier L, Richter A, Tavazzi L, Arbustini E, Wichter T, Maisch B, Komajda M, Isnard R, Villard E. Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. Eur Heart J. 2009 Sep;30(17):2128-36. Epub 2009 Jun 12. (19525294)

Moulik M, Vatta M, Witt SH, Arola AM, Murphy RT, McKenna WJ, Boriek AM, Oka K, Labeit S, Bowles NE, Arimura T, Kimura A, Towbin JA. ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene. J Am Coll Cardiol. 2009 Jul 21;54(4):325-33. (19608030)

ANKRD1 (10q23.31)

Ankyrin repeat domain 1 (cardiac muscle)

Dilated cardiomyopathy, 2A - (AD)

10.82

TNNI3 (19q13.4)

Troponin I, cardiac

Dilated cardiomyopathy, 2B - (AR)

10.83

Theis, J. L., Sharpe, K. M., Matsumoto, M. E., Chai, H. S., Nair, A. A., Theis, J. D., de Andrade, M., Wieben, E. D., Michels, V. V., Olson, T. M. Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. Circ. Cardiovasc. Genet. 4: 585-594, 2011. (21965549)

GATAD1 (7q21-q22)

GATA zinc finger domain containing 1

Dilated cardiomyopathy, 2C - (AR)

10.84

Iuso, A., Wiersma, M., Schuller, H.-J., Pode-Shakked, B., Marek-Yagel, D., Grigat, M., Schwarzmayr, T., Berutti, R., Alhaddad, B., Kanon, B., Grzeschik, N. A., Okun, J. G., and 26 others. Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102: 1018-1030, 2018.[PubMed: 29754768] (29754768)

PPCS (1p34.2)

Phosphopantothenosylcystein synthetase

Dilated cardiomyopathy, 2D - (AR)

10.85

Ganapathi, M., Argyriou, L., Martinez-Azorin, F., Morlot, S., Yigit, G., Lee, T. M., Auber, B., von Gise, A., Petrey, D. S., Thiele, H., Cyganek, L., Sabater-Molina, M., and 12 others. Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. Hum. Genet. 139: 1443-1454, 2020 (32514796)

RPL3L (16p13.3)

Ribosomal protein L3-like

10.86

Vasilescu, C., Ojala, T. H., Brilhante, V., Ojanen, S., Hinterding, H. M., Palin, E., Alastalo, T.-P., Koskenvuo, J., Hiippala, A., Jokinen, E., Jahnukainen, T., Lohi, J., Pihkala, J., Tyni, T. A., Carroll, C. J., Suomalainen, A. Genetic basis of severe childhood-onset cardiomyopathies. J. Am. Coll. Cardiol. 72: 2324-2338, 2018 (30384889)

Jones, E. G., Mazaheri, N., Maroofian, R., Zamani, M., Seifi, T., Sedaghat, A., Shariati, G., Jamshidi, Y., Allen, H. D., Wehrens, X. H. T., Galehdari, H., Landstrom, A. P. Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy. Sci. Rep. 9: 9038, 2019 (31227780)

JPH2 (20q13.12)

Junctophilin-2

10.87

Hakui, H., Kioka, H., Miyashita, Y., Nishimura, S., Matsuoka, K., Kato, H., Tsukamoto, O., Kuramoto, Y., Takuwa, A., Takahashi, Y., Saito, S., Ohta, K., and 10 others. Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation. Sci. Transl. Med. 14: eabf3274, 2022 (35044787)

BAG5 (14q32.33)

Bag cochaperone

Dilated cardiomyopathy, 2G - (AR)

10.88

Ahrens-Nicklas, R. C., Pappas, C. T., Farman, G. P., Mayfield, R. M., Larrinaga, T. M., Medne, L., Ritter, A., Krantz, I. D., Murali, C., Lin, K. Y., Berger, J. H., Yum, S. W., Carreon, C. K., Gregorio, C. C. Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: a novel mechanism of neonatal dilated cardiomyopathy. Sci. Adv. 5: eaax2066, 2019 (31517052)

LMOD2 (7q31.32)

Leiomodin 2

Dilated cardiomyopathy, 2H - (AR)

10.89

Verhagen, J. M. A., van den Born, M., van der Linde, H. C., Nikkels, P. G. J., Verdijk, R. M., Kivlen, M. H., van Unen, L. M. A., Baas, A. F., ter Heide, H., van Osch-Gevers, L., Hoogeveen-Westerveld, M., Herkert, J. C., and 10 others. Biallelic variants in ASNA1, encoding a cytosolic targeting factor of tail-anchored proteins, cause rapidly progressive pediatric cardiomyopathy. Circ. Genom. Precis. Med. 12: 397-406, 2019. Note: Erratum: Circ. Genom. Precis. Med. 13: e000065, 2020.[PubMed: 31461301, (31461301)

GET3 (19p13.13)

Guided entry of tail-anchored proteins factor 3, ATPase

Dilated cardiomyopathy, 2I - (AR)

10.90

Aspit, L., Levitas, A., Etzion, S., Krymko, H., Slanovic, L., Zarivach, R., Etzion, Y., Parvari, R. CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy. J. Med. Genet. 56: 228-235, 2019.[PubMed: 30518548] (30518548)

CAP2 (6p22.3)

Cyclase associated actin cytoskeltin regulatory protein 2

Dilated cardiomyopathy, 3A - (XR)

10.91

Gedeon, A. K.; Wilson, M. J.; Colley, A. C.; Sillence, D. O.; Mulley, J. C. : X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. J. Med. Genet. 32: 383-388, 1995. (7616547)

TAZ (Xq28)

Tafazzin

Dilated cardiomyopathy, 3B - (XR)

10.92

Muntoni, F.; Cau, M.; Ganau, A.; Congiu, R.; Arvedi, G.; Mateddu, A.; Marrosu, M. G.; Cianchetti, C.; Realdi, G.; Cao, A.; Melis, M. A. : Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. New Eng. J. Med. 329: 921-925, 1993. (8361506)

Milasin, J.; Muntoni, F.; Severini, G. M.; Bartoloni, L.; Vatta, M.; Krajinovic, M.; Mateddu, A.; Angelini, C.; Camerini, F.; Falaschi, A.; Mestroni, L.; Giacca, M.; Heart Muscle Disease Study Group : A point mutation in the 5-prime splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum. Molec. Genet. 5: 73-79, 1996. (8789442)

DMD (Xp21.2)

Dystrophin

Dilated cardiomyopathy related to nesprin-1 - (AD)

10.93

Puckelwartz MJ, Kessler EJ, Kim G, Dewitt MM, Zhang Y, Earley JU, Depreux FF, Holaska J, Mewborn SK, Pytel P, McNally EM. Nesprin-1 mutations in human and murine cardiomyopathy. J Mol Cell Cardiol. 2010 Apr;48(4):600-8. Epub 2009 Nov 24. (19944109)

SYNE1 (6q25)

Spectrin repeat containing, nuclear envelope 1 (nesprin 1)

Dilated cardiomyopathy related to MURC - (AD)

10.94

Rodriguez G, Ueyama T, Ogata T, Czernuszewicz G, Tan Y, Dorn GW 2nd, Bogaev R, Amano K, Oh H, Matsubara H, Willerson JT, Marian AJ. Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. Circ Cardiovasc Genet. 2011 Aug 1;4(4):349-58. (21642240)

MURC (9q31.1)

Muscle-related coiled-coil protein

Dilated Cardiomyopathy related to DOLK - (AR)

10.95

Kranz, C., Jungeblut, C., Denecke, J., Erlekotte, A., Sohlbach, C., Debus, V., Kehl, H. G., Harms, E., Reith, A., Reichel, S., Grobe, H., Hammersen, G., Schwarzer, U., Marquardt, T. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am. J. Hum. Genet. 80: 433-440, 2007. (22242004)

Lefeber, D. J., de Brouwer, A. P. M., Morava, E., Riemersma, M., Schuurs-Hoeijmakers, J. H. M., Absmanner, B., Verrijp, K., van den Akker, W. M. R., Huijben, K., Steenbergen, G., van Reeuwijk, J., Jozwiak, A., and 10 others. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet. 7: e1002427, 2011. Note: Electronic Article. (17273964)

DOLK (9q34.13)

Dolichol kinase

Restrictive cardiomyopathy, 1 - (AD)

10.96

Mogensen, J.; Kubo, T.; Duque, M.; Uribe, W.; Shaw, A.; Murphy, R.; Gimeno, J. R.; Elliott, P.; McKenna, W. J. : Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J. Clin. Invest. 111: 209-216, 2003. (12531876)

TNNI3 (19q13.4)

Troponin I, cardiac

Restrictive cardiomyopathy, 2 - ( )

10.97

Zhang, J.; Kumar, A.; Kaplan, L.; Fricker, F. J.; Wallace, M. R.Genetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus. (Letter) J. Med. Genet. 42: 663-665, 2005. (16061566)

? - (10)

Restrictive cardiomyopathy, 3 - (AD)

10.98

Peddy, S. B., Vricella, L. A., Crosson, J. E., Oswald, G. L., Cohn, R. D., Cameron, D. E., Valle, D., Loeys, B. L. Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. Pediatrics 117: 1830-1833, 2006. (16651346)

TNNT2 (1q32)

Troponin T2, cardiac

Restrictive cardiomyopathy, 4 - (AD)

10.99

MYPN (10q21.1)

Myopalladin

Restrictive cardiomyopathy, 5 - (AD)

10.100

Brodehl, A., Ferrier, R. A., Hamilton, S. J., Greenway, S. C., Brundler, M.-A., Yu, W., Gibson, W. T., McKinnon, M. L., McGillivray, B., Alvarez, N., Giuffre, M., Schwartzentruber, J., FORGE Canada Consortium, Gerull, B. Mutations in FLNC are associated with familial restrictive cardiomyopathy. Hum. Mutat. 37: 269-279, 2016. (26666891)

FLNC (7q32)

Filamin C, gamma (actin-binding protein - 280)

10.101

Louw, J. J., Nunes Bastos, R., Chen, X., Verdood, C., Corveleyn, A., Jia, Y., Breckpot, J., Gewillig, M., Peeters, H., Santoro, M. M., Barr, F., Devriendt, K. Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings. PLoS Genet. 14: e1007138, 2018 (29357359)

KIF20A (5q31.2)

Kinesin family member 20A

Pompe disease Glycogenosis, generalized, cardiac form (early and late onset) - (AR)

10.102

Hers HG. alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). Biochem J. 1963 Jan;86:11-6. (13954110)

GAA (17q25.2-q25.3)

Acid alpha-glucosidase preproprotein

Cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) - (XR)

10.103

Bolhuis PA, Hensels GW, Hulsebos TJ, Baas F, Barth PG. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am J Hum Genet. 1991 Mar;48(3):481-5. (1998334)

Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet. 1996 Apr;12(4):385-9. (8630491)

TAZ (Xq28)

Tafazzin

Left ventricular noncompaction, 1 - (AD)

10.104

Ichida, F.; Tsubata, S.; Bowles, K. R.; Haneda, N.; Uese, K.; Miyawaki, T.; Dreyer, W. J.; Messina, J.; Li, H.; Bowles, N. E.; Towbin, J. A. : Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103: 1256-1263, 2001. (11238270)

DTNA (18q12)

Dystrobrevin, alpha

10.105

Sasse-Klaassen, S., Gerull, B., Oechslin, E., Jenni, R., Thierfelder, L. Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. Am. J. Med. Genet. 119A: 162-167, 2003. (12749056)

? - (11q15)

Left ventricular noncompaction, 3 - (AD)

10.106

LDB3 (10q22)

LIM domain binding 3

Left ventricular noncompaction, 4 - (AD)

10.107

Monserrat, L., Hermida-Prieto, M., Fernandez, X., Rodriguez, I., Dumont, C., Cazon, L., Cuesta, M. G., Gonzalez-Juanatey, C., Peteiro, J., Alvarez, N., Penas-Lado, M., Castro-Beiras, A. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Europ. Heart J. 28: 1953-1961, 2007. (17611253)

ACTC1 (15q11-q14)

Actin, alpha, cardiac muscle precursor

Left ventricular noncompaction, 5 - (AD)

10.108

Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 117: 2893-2901, 2008. (18506004)

MYH7 (14q12)

Myosin, heavy polypeptide 7, cardiac muscle, beta

Left ventricular noncompaction, 6 - (AD)

10.109

Luedde, M., Ehlermann, P., Weichenhan, D., Will, R., Zeller, R., Rupp, S., Muller, A, Steen, H., Ivandic, B. T., Ulmer, H. E., Kern, M., Katus, H. A., Frey, N. Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. Cardiovasc. Res. 86: 452-460, 2010. (20083571)

TNNT2 (1q32)

Troponin T2, cardiac

Left ventricular noncompaction, 7 - (AD)

10.110

Luxan, G., Casanova, J. C., Martinez-Poveda, B., Prados, B., D'Amato, G., MacGrogan, D., Gonzalez-Rajal, A., Dobarro, D., Torroja, C., Martinez, F., Izquierdo-Garcia, J. L., Fernandez-Friera, L., and 10 others. Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. Nature Med. 19: 193-201, 2013. (23314057)

MIB1 (18q11.2)

Mindbomb homolog 1 (drosophila)

Left ventricular noncompaction, 8 - (AD)

10.111

PRDM16 (1p36.32)

PR Domain-Containing Protein 16

Left ventricular noncompaction, 9 - (AD)

10.112

Probst, S., Oechslin, E., Schuler, P., Greutmann, M., Boye, P., Knirsch, W., Berger, F., Thierfelder, L., Jenni, R., Klaassen, S. Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circ. Cardiovasc. Genet. 4: 367-374, 2011. (21551322)

TPM1 (15q22)

Tropomyosin 1 (alpha)

Left ventricular noncompaction, 10 - (AD)

10.113

MYBPC3 (11p11.2)

Cardiac myosin binding protein-C

Cardiovalvular dysplasia, X-linked (Myxomatous valvular dystrophy) - (XR)

10.114

Kyndt, F.; Schott, J.-J.; Trochu, J.-N.; Baranger, F.; Herbert, O.; Scott, V.; Fressinaud, E.; David, A.; Moisan, J.-P.; Bouhour, J.-B.; Le Marec, H.; Benichou, B. : Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. Am. J. Hum. Genet. 62: 627-632, 1998. (17190868)

Kyndt F, Gueffet J P, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch S A, Newbury-Ecob R, Tran V, Young I, Trochu J N, Le Marec H, Schott J J. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation 2007; 115: 40-9. (9497244)

FLNA (Xq28)

Filamin A, alpha (actin binding protein 280)

Arrhythmogenic right ventricular dysplasia, 1 - (AD)

10.115

Rampazzo A, Nava A, Danieli GA, Buja G, Daliento L, Fasoli G, Scognamiglio R, Corrado D, Thiene G. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet 1994;3:959-962. (15639475)

Beffagna, G.; Occhi, G.; Nava, A.; Vitiello, L.; Ditadi, A.; Basso, C.; Bauce, B.; Carraro, G.; Thiene, G.; Towbin, J. A.; Danieli, G. A.; Rampazzo, A. : Regulatory mutations in transforming growth factor-beta-3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc. Res. 65: 366-373, 2005. (7951245)

TGFB3 (14q24.3)

Transforming growth factor, beta 3

Arrhythmogenic right ventricular dysplasia, 2 - (AD)

10.116

Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001:10:189-194. (7951245)

RYR2 (1q43)

Ryanodine receptor 2

Arrhythmogenic right ventricular dysplasia, 3 - (AD)

10.117

Severini GM, Krajinovic M, Pinamonti B, Sinagra G, Fioretti P, Brunazzi MC, Falaschi A, Camerini F, Giacca M, Mestroni L. A new locus for anhythmogenic right ventricular dysplasia on the long arm of chromosome14. Genomics 1996;31:193-200. (8824801)

? - (14q12-q22)

Arrhythmogenic right ventricular dysplasia, 4 - (AD)

10.118

Rampazzo A, Nava A, Miorin M, Fonderico P, Pope B, Tiso N, Livolsi B, Zimbello R, Thiene G, Danieli GA. ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. Genomics 1997;45:259-263. (9344647)

? - (2q32.1-q32.3)

Arrhythmogenic right ventricular dysplasia, 5 - (AD)

10.119

Ahmad F, Li D, Karibe A, Gonzalez O, Tapscott T, Hill R, Weilbaecher D, Blackie P, Furey M, Gardner M, Bachinski LL, Roberts R. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation. 1998 Dec 22-29;98(25):2791-5. (18313022)

Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet. 2008 Apr;82(4):809-21. Epub 2008 Feb 28. (9860777)

TMEM43 (3p25.1)

Transmembrane protein 43

Arrhythmogenic right ventricular dysplasia, 6 - (AD)

10.120

Li D, Ahmad F. Gardner MJ, Weilbaecher D, Hill R, Karibe A, Gonzalez O, Tapscott T, Sharratt GP. Bachinski LL, Roberts R. The locus of a novel gene responsible for arrhythmogenic right- ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. Am J Hum Genet 2000;66:148-156. (10631146)

HACD1 (10p12.33)

Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase

Arrhythmogenic right ventricular dysplasia, 8 - ( )

10.121

Rampazzo, A.; Nava, A.; Malacrida, S.; Beffagna, G.; Bauce, B.; Rossi, V.; Zimbello, R.; Simionati, B.; Basso, C.; Thiene, G.; Towbin, J. A.; Danieli, G. A. : Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am. J. Hum. Genet. 71: 1200-1206, 2002. (12373648)

DSP (6p24.3)

Desmoplakin

Arrhythmogenic right ventricular dysplasia, 9 - ( )

10.122

Gerull, B.; Heuser, A.; Wichter, T.; Paul, M.; Basson, C. T.; McDermott, D. A.; Lerman, B. B.; Markowitz, S. M.; Ellinor, P. T.; MacRae, C. A.; Peters, S.; Grossmann, K. S.; Michely, B.; Sasse-Klaassen, S.; Birchmeier, W.; Dietz, R.; Breithardt, G.; Schulze-Bahr, E.; Thierfelder, L. : Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nature Genet. 36: 1162-1164, 2004. (15489853)

PKP2 (12p11.21)

Plakophilin 2

Arrhythmogenic right ventricular dysplasia, 10 - (AD)

10.123

Awad, M. M.; Dalal, D.; Cho, E.; Amat-Alarcon, N.; James, C.; Tichnell, C.; Tucker, A.; Russell, S. D.; Bluemke, D. A.; Dietz, H. C.; Calkins, H.; Judge, D. P. : DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am. J. Hum. Genet. 79: 136-142, 2006. (1677357)

DSG2 (18q12.1)

Desmoglein 2

Arrhythmogenic right ventricular dysplasia, 11 - (AD)

10.124

Syrris, P.; Ward, D.; Evans, A.; Asimaki, A.; Gandjbakhch, E.; Sen-Chowdhry, S.; McKenna, W. J. : Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am. J. Hum. Genet. 79: 978-984, 2006. (17033975)

DSC2 (18q12.1)

Desmocollin 2

Arrhythmogenic right ventricular dysplasia, 12 - (AD)

10.125

Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2007 Nov;81(5):964-73. Epub 2007 Sep 28. (17924338)

JUP (17q21.2)

Junction plakoglobin

Arrhythmogenic right ventricular dysplasia, familial, 13 - (AD)

10.126

van Hengel, J., Calore, M., Bauce, B., Dazzo, E., Mazzotti, E., De Bortoli, M., Lorenzon, A., Li Mura, I. E. A., Beffagna, G., Rigato, I., Vleeschouwers, M., Tyberghein, K., and 10 others. Mutations in the area composita protein alpha-T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. Europ. Heart J. 34: 201-210, 2013. (23136403)

CTNNA3 (10q21.3)

Catenin alpha 3

Arrhythmogenic right ventricular dysplasia, familial, 14 - (AD)

10.127

Mayosi, B. M., Fish, M., Shaboodien, G., Mastantuono, E., Kraus, S., Wieland, T., Kotta, M.-C., Chin, A., Laing, N., Ntusi, N. B. A., Chong, M., Horsfall, C., Pimstone, S. N., Gentilini, D., Parati, G., Strom, T.-M., Meitinger, T., Pare, G., Schwartz, P. J., Crotti, L. Identification of cadherin 2 (CDH2) mutations in arrhythmogenic right ventricular cardiomyopathy. Circ. Cardiovasc. Genet. 10: e001605, 2017 (28280076)

CDH2 (18q12.1)

Cadherin 2

Ventricular tachycardia, catecholaminergic polymorphic, dominant - (AD)

10.128

Swan, H.; Piippo, K.; Viitasalo, M.; Heikkila, P.; Paavonen, T.; Kainulainen, K.; Kere, J.; Keto, P.; Kontula, K.; Toivonen, L. : Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J. Am. Coll. Cardiol. 34: 2035-2042, 1999. (10588221)

Priori, S. G.; Napolitano, C.; Tiso, N.; Memmi, M.; Vignati, G.; Bloise, R.; Sorrentino, V.; Danieli, G. A.: Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 103: 196-200, 2001. (11157710)

Laitinen, P. J.; Brown, K. M.; Piippo, K.; Swan, H.; Devaney, J. M.; Brahmbhatt, B.; Donarum, E. A.; Marino, M.; Tiso, N.; Viitasalo, M.; Toivonen, L.; Stephan, D. A.; Kontula, K. : Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 103: 485-490, 2001. (11208676)

RYR2 (1q43)

Ryanodine receptor 2

Ventricular tachycardia, catecholaminergic polymorphic, recessive - (AR)

10.129

Lahat, H.; Pras, E.; Olender, T.; Avidan, N.; Ben-Asher, E.; Man, O.; Levy-Nissenbaum, E.; Khoury, A.; Lorber, A.; Goldman, B.; Lancet, D.; Eldar, M. : A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am. J. Hum. Genet. 69: 1378-1384, 2001. (11704930)

CASQ2 (1p13.1)

Calsequestrin 2 (cardiac muscle)

Ventricular tachycardia, catecholaminergic polymorphic, recessive - (AR)

10.130

Devalla, H. D., Gelinas, R., Aburawi, E. H., Beqqali, A., Goyette, P., Freund, C., Chaix, M.-A., Tadros, R., Jiang, H., Le Bechec, A., Monshouwer-Kloots, J. J., Zwetsloot, T., and 17 others. TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. EMBO Molec. Med. 8: 1390-1408, 2016. (27861123)

TECRL (4q13.1)

Trans-2,3-Enoyl-CoA Reductase-Like Protein

Ventricular tachycardia, catecholaminergic polymorphic, recessive - (AR)

10.131

Nyegaard, M., Overgaard, M. T., Sondergaard, M. T., Vranas, M., Behr, E. R., Hildebrandt, L. L., Lund, J., Hedley, P. L., Camm, A. J., Wettrell, G., Fosdal, I., Christiansen, M., Borglum, A. D. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. Am. J. Hum. Genet. 91: 703-712, 2012. (23040497)

CALM1 (14q32.11)

Calmodulin 1

Cardiac arrhythmia syndrome, with or without skeletal muscle weakness - (AR)

10.132

Roux-Buisson, N., Cacheux, M., Fourest-Lieuvin, A., Fauconnier, J., Brocard, J., Denjoy, I., Durand, P., Guicheney, P., Kyndt, F., Leenhardt, A., Le Marec, H., Lucet, V., and 10 others. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Hum. Molec. Genet. 21: 2759-2767, 2012. (22422768)

TRDN (6q22.31)

Triadin

Ventricular tachycardia, catecholaminergic polymorphic 6 - (AD)

10.133

Gomez-Hurtado, N., Boczek, N. J., Kryshtal, D. O., Johnson, C. N., Sun, J., Nitu, F. R., Cornea, R. L., Chazin, W. J., Calvert, M. L., Tester, D. J., Ackerman, M. J., Knollmann, B. C. Novel CPVT-associated calmodulin mutation in CALM3 (CALM3-A103V) activates arrhythmogenic Ca waves and sparks. Circ. Arrhythm. Electrophysiol. 9: e004161, 2016. Note: Electronic (27516456)

CALM3 (19q13.32)

Calmodulin 3

Naxos disease - (AR)

10.134

McKoy, G.; Protonotarios, N.; Crosby, A.; Tsatsopoulou, A.; Anastasakis, A.; Coonar, A.; Norman, M.; Baboonian, C.; Jeffery, S.; McKenna, W. J. : Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355: 2119-2124, 2000. (10902626)

JUP (17q21.2)

Junction plakoglobin

Arrhythmogenic right ventricular cardiomyopathy 7 (ARVC7) - (AD)

10.135

Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. Eur J Hum Genet. 2012 Sep;20(9):984-5. doi: 10.1038/ejhg.2012.39. Epub 2012 Mar 7. (22395865)

DES (2q35)

Desmin

Long QT syndrome 1 - (AD)

10.136

KCNQ1 (11p15.5-p15.4)

Potassium voltage-gated channel, KQT-like subfamily, member 1

Long QT syndrome 2 - (AD)

10.137

Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. Related Articles, Links A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 1995 Mar 10;80(5):795-803. (7889573)

KCNH2 (7q36.1)

Voltage-gated potassium channel, subfamily H, member 2

Long QT syndrome 3 - (AD)

10.138

SCN5A (3p22.2)

Voltage-gated sodium channel type V alpha

Long QT syndrome 4 - (AD)

10.139

Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donnelly P, Vergnaud G, Bachner L, Moisan JP, et al. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet. 1995 Nov;57(5):1114-22. (12571597)

Mohler, P. J.; Schott, J.-J.; Gramolini, A. O.; Dilly, K. W.; Guatimosim, S.; duBell, W. H.; Song, L.-S.; Haurogne, K.; Kyndt, F.; Ali, M. E.; Rogers, T. B.; Lederer, W. J.; Escande, D.; Le Marec, H.; Bennett, V. : Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421: 634-639, 2003. (15178757)

Mohler, P. J.; Splawski, I.; Napolitano, C.; Bottelli, G.; Sharpe, L.; Timothy, K.; Priori, S. G.; Keating, M. T.; Bennett, V. : A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc. Nat. Acad. Sci. 101: 9137-9142, 2004. (7485162)

ANK2 (4q25-26)

Ankyrin 2

Long QT syndrome 5 - (AD)

10.140

Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y, Rubie C, Hordt M, Towbin JA, Borggrefe M, Assmann G, Qu X, Somberg JC, Breithardt G, Oberti C, Funke H. KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet. 1997 Nov;17(3):267-8. (9354783)

Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT. Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet. 1997 Nov;17(3):338-40. (9354802)

KCNE1 (21q22.12)

Potassium voltage-gated channel, Isk-related family, member 1

Long QT syndrome 6 - (AD)

10.141

Abbott, G. W.; Sesti, F.; Splawsky, I.; Buck, M. E.; Lehmann, M. H.; Timothy, K. W.; Keating, M. T.; Goldstein, S. A. N. : MiRP1 forms I(kr) potassium channels with HERG and is associated with cardiac arrhythmia. Cell 97: 175-187, 1999. (10219239)

KCNE2 (21q22.12)

Potassium voltage-gated channel, Isk-related family, member 2

Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (AD)

10.142

Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001 May 18;105(4):511-9. (11371347)

KCNJ2 (17q24.3)

Potassium channel, inwardly rectifying, dubfamily J, member 2

Long QT syndrome 8 (Timothy syndrome) - (AD)

10.143

Splawski, I.; Timothy, K. W.; Decher, N.; Kumar, P.; Sachse, F. B.; Beggs, A. H.; Sanguinetti, M. C.; Keating, M. T. : Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc. Nat. Acad. Sci. 102: 8089-8096, 2005. (15863612)

CACNA1C (12p13.33)

Calcium channel, voltage-dependent, L type, alpha 1C subunit

Long QT syndrome 9 - (AD)

10.144

Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ and Towbin JA. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 2006;114:2104-12. (17060380)

CAV3 (3p25.3)

Caveolin 3

Long QT syndrome 10 - (AD)

10.145

Medeiros-Domingo, A., Kaku, T., Tester, D. J., Iturralde-Torres, P., Itty, A., Ye, B., Valdivia, C., Ueda, K., Canizales-Quinteros, S., Tusie-Luna, M. T., Makielski, J. C., Ackerman, M. J. SCN4B-encoded sodium channel beta-4 subunit in congenital long-QT syndrome. Circulation 116: 134-142, 2007. (17592081)

SCN4B (11q23.3)

Sodium channel, voltage-gated, type IV, beta subunit

Long QT syndrome 11 - (AD)

10.146

Chen, L., Marquardt, M. L., Tester, D. J., Sampson, K. J., Ackerman, M. J., Kass, R. S. Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc. Nat. Acad. Sci. 104: 20990-20995, 2007. (18093912)

AKAP9 (7q21.2)

A kinase (PRKA) anchor protein (yotiao) 9

Long QT syndrome 12 - (AD)

10.147

Ueda, K., Valdivia, C., Medeiros-Domingo, A., Tester, D. J., Vatta, M., Farrugia, G., Ackerman, M. J., Makielski, J. C. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc. Nat. Acad. Sci. 105: 9355-9360, 2008. (18591664)

SNTA1 (20q11.21)

Syntrophin, alpha 1

Long QT syndrome 13 - (AD)

10.148

Yang, Y., Yang, Y., Liang, B., Liu, J., Li, J., Grunnet, M., Olesen, S.-P., Rasmussen, H. B., Ellinor, P. T., Gao, L., Lin, X., Li, L., and 9 others. Identification of a Kir3.4 mutation in congenital long QT syndrome. Am. J. Hum. Genet. 86: 872-880, 2010. (20560207)

KCNJ5 (11 q24.3)

Potassium inwardly-rectifying channel, subfamily J, member 5

Long QT syndrome 14 - (AD)

10.149

Crotti, L., Johnson, C. N., Graf, E., De Ferrari, G. M., Cuneo, B. F., Ovadia, M., Papagiannis, J., Feldkamp, M. D., Rathi, S. G., Kunic, J. D., Pedrazzini, M., Wieland, T., and 11 others. Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation 127: 1009-1017, 2013. (23388215)

CALM1 (14q32.11)

Calmodulin 1

Long QT syndrome 15 - (AD)

10.150

CALM2 (2p21)

Calmodulin 2

Long QT syndrome 16 - (AD)

10.151

Reed, G. J., Boczek, N. J., Etheridge, S. P., Ackerman, M. J. CALM3 mutation associated with long QT syndrome. Heart Rhythm 12: 419-422, 2015. (25460178)

CALM3 (19q13.32)

Calmodulin 3

Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (AD)

10.152

Hiraide T, Fukumura S, Yamamoto A, Nakashima M, Saitsu H. Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance. Brain Dev. 2021 Mar;43(3):470-474. doi: 10.1016/j.braindev.2020.10.010. Epub 2020 Nov 14. PMID: 33199157 (33199157)

KCNJ5 (11 q24.3)

Potassium inwardly-rectifying channel, subfamily J, member 5

Short QT syndrome 1 - (AD)

10.153

Brugada, R.; Hong, K.; Dumaine, R.; Cordeiro, J.; Gaita, F.; Borggrefe, M.; Menendez, T. M.; Brugada, J.; Pollevick, G. D.; Wolpert, C.; Burashnikov, E.; Matsuo, K.; Wu, Y. S.; Guerchicoff, A.; Bianchi, F.; Giustetto, C.; Schimpf, R.; Brugada, P.; Antzelevitch, C. : Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation 109: 30-35, 2004. (14676148)

KCNH2 (7q36.1)

Voltage-gated potassium channel, subfamily H, member 2

Short QT syndrome 2 - (AD)

10.154

Bellocq, C.; van Ginneken, A. C. G.; Bezzina, C. R.; Alders, M.; Escande, D.; Mannens, M. M. A. M.; Baro, I.; Wilde, A. A. M. : Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation 109: 2394-2397, 2004. (15159330)

KCNQ1 (11p15.5-p15.4)

Potassium voltage-gated channel, KQT-like subfamily, member 1

Short QT syndrome 3 - (AD)

10.155

Priori, S. G.; Pandit, S. V.; Rivolta, I.; Berenfeld, O.; Ronchetti, E.; Dhamoon, A.; Napolitano, C.; Anumonwo, J.; Raffaele di Barletta, M.; Gudapakkam, S.; Bosi, G.; Stramba-Badiale, M.; Jalife, J. : A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ. Res. 96: 800-807, 2005. (15761194)

KCNJ2 (17q24.3)

Potassium channel, inwardly rectifying, dubfamily J, member 2

Jervell and Lange-Nielsen cardio-auditory syndrome - (AR)

10.156

Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Faure S, Gary F, Coumel P, Petit C, Schwartz K, Guicheney P. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet. 1997 Feb;15(2):186-9. (9020846)

KCNQ1 (11p15.5-p15.4)

Potassium voltage-gated channel, KQT-like subfamily, member 1

Jervell and Lange-Nielsen cardio-auditory syndrome - (AR)

10.157

Tyson, J., L. Tranebjaerg, S. Bellman, C. Wren, J. F. Taylor, J. Bathen, B. Aslaksen, S. J. Sorland, O. Lund, S. Malcolm, M. Pembrey, S. Bhattacharya and M. Bitner-Glindzicz IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet 1997, 6, 2179-85. (9328483)

KCNE1 (21q22.12)

Potassium voltage-gated channel, Isk-related family, member 1

Atrial fibrillation, 1 - (AD)

10.158

Brugada, R.; Tapscott, T.; Czernuszewicz, G. Z.; Marian, A. J.; Iglesias, A.; Mont, L.; Brugada, J.; Girona, J.; Domingo, A.; Bachinski, L. L.; Roberts, R. : Identification of a genetic locus for familial atrial fibrillation. New Eng. J. Med. 336: 905-911, 1997. (9070470)

? - (10q22-q24)

Atrial fibrillation, 2 - (AD)

10.159

Ellinor, P. T.; Shin, J. T.; Moore, R. K.; Yoerger, D. M.; MacRae, C. A. : Locus for atrial fibrillation maps to chromosome 6q14-16. Circulation 107: 2880-2883, 2003. (12782570)

? - (10q22-q24)

Atrial fibrillation, 3 - (AD)

10.160

Ellinor, P. T.; Shin, J. T.; Moore, R. K.; Yoerger, D. M.; MacRae, C. A. : Locus for atrial fibrillation maps to chromosome 6q14-16. Circulation 107: 2880-2883, 2003. (12782570)

KCNQ1 (11p15.5-p15.4)

Potassium voltage-gated channel, KQT-like subfamily, member 1

Atrial fibrillation, 4 - (AD)

10.161

Gollob, M. H.; Jones, D. L.; Krahn, A. D.; Danis, L.; Gong, X.-Q.; Shao, Q.; Liu, X.; Veinot, J. P.; Tang, A. S. L.; Stewart, A. F. R.; Tesson, F.; Klein, G. J.; Yee, R.; Skanes, A. C.; Guiraudon, G. M.; Ebihara, L.; Bai, D. : Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. New Eng. J. Med. 354: 2677-2688, 2006. (16790700)

KCNE2 (21q22.12)

Potassium voltage-gated channel, Isk-related family, member 2

Atrial fibrillation, 5 - (AD)

10.162

Gudbjartsson, D F; Arnar, D O; Helgadottir, A; Gretarsdottir, S; Holm, H; Sigurdsson, A; Jonasdottir, A; Baker, A; Thorleifsson, G; Kristjansson, K; Palsson, A; Blondal, T; and 28 others : Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature 448: 353-357, 2007. (17603472)

? - (4q25)

Atrial fibrillation, 6 - (AD)

10.163

Hodgson-Zingman, D. M.; Karst, M. L.; Zingman, L. V.; Heublein, D. M.; Darbar, D.; Herron, K. J.; Ballew, J. D.; de Andrade, M.; Burnett, J. C., Jr.; Olson, T. M. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. New Eng. J. Med. 359: 158-165, 2008. (18614783)

NPPA (1p36.22)

Natriuretic peptide precursor A

Atrial fibrillation, 7 - (AD)

10.164

Olson, T. M.; Alekseev, A. E.; Liu, X. K.; Park, S.; Zingman, L. V.; Bienengraeber, M.; Sattiraju, S.; Ballew, J. D.; Jahangir, A.; Terzic, A. Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum. Molec. Genet. 15: 2185-2191, 2006. (16772329)

Yang, Y.; Li, J.; Lin, X.; Yang, Y.; Hong, K.; Wang, L.; Liu, J.; Li, L.; Yan, D.; Liang, D.; Xiao, J.; Jin, H.; Wu, J.; Zhang, Y.; Chen, Y.-H. Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. J. Hum. Genet. 54: 277-283, 2009. (19343045)

KCNA5 (12p13.32)

Potassium voltage-gated channel, shaker-related subfamily, member 5

Atrial fibrillation, 8 - (AD)

10.165

Benjamin, E. J.; Rice, K. M.; Arking, D. E.; Pfeufer, A.; van Noord, C.; Smith, A. V.; Schnabel, R. B.; Bis, J. C.; Boerwinkle, E.; Sinner, M. F.; Dehghan, A.; Lubitz, S. A.; and 44 others. Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nature Genet. 41: 879-881, 2009 (19597491)

Gudbjartsson, D. F.; Holm, H.; Gretarsdottir, S.; Thorleifsson, G.; Walters, G. B.; Thorgeirsson, G.; Gulcher, J.; Mathiesen, E. B.; Njolstad, I.; Nyrnes, A.; Wilsgaard, T.; Hald, E. M.; and 31 others. A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nature Genet. 41: 876-878, 2009. (19597492)

? - (16q22)

Atrial fibrillation, 9 - (AD)

10.166

Xia, M., Jin, Q., Bendahhou, S., He, Y., Larroque, M.-M., Chen, Y., Zhou, Q., Yang, Y., Liu, Y., Liu, B., Zhu, Q., Zhou, Y., and 12 others. A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem. Biophys. Res. Commun. 332: 1012-1019, 2005. (15922306)

KCNJ2 (17q24.3)

Potassium channel, inwardly rectifying, dubfamily J, member 2

Atrial fibrillation, 10 - (AD)

10.167

Laitinen-Forsblom, P. J., Makynen, P., Makynen, H., Yli-Mayry, S., Virtanen, V., Kontula, K., Aalto-Setala, K. SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias. J. Cardiovasc. Electrophysiol. 17: 480-485, 2006. (16684018)

SCN5A (3p22.2)

Voltage-gated sodium channel type V alpha

Atrial fibrillation, 11 - (AD)

10.168

GJA5 (1q21.1)

Connexin 40

Atrial fibrillation , 12 - (AD)

10.169

Olson, T. M., Alekseev, A. E., Moreau, C., Liu, X. K., Zingman, L. V., Miki, T., Seino, S., Asirvatham, S. J., Jahangir, A., Terzic, A. K(ATP) channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. Nat. Clin. Pract. Cardiovasc. Med. 4: 110-116, 2007. (17245405)

ABCC9 (16p13.1)

ATP-binding cassette, sub-family C (member 9)

Atrial fibrillation, 13 - (AD)

10.170

Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M. Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation. Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009. (19808477)

SCN1B (19q13.11)

Sodium channel, voltage-gated, type I, beta subunit

Atrial fibrillation, 14 - (AD)

10.171

SCN2B (11q23.3)

Sodium channel, voltage-gated, type II, beta subunit

Atrial fibrillation, 15 - (AR)

10.172

Zhang, X., Chen, S., Yoo, S., Chakrabarti, S., Zhang, T., Ke, T., Oberti, C., Yong, S. L., Fang, F., Li, L., de la Fuente, R., Wang, L., Chen, Q., Wang, Q. K. Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell 135: 1017-1027, 2008. (19070573)

NUP155 (5p13.2)

Nucleoporin 155 kDa

Atrial fibrillation , 16 - (AD)

10.173

Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H. Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation. Cardiovasc. Res. 89: 786-793, 2011. (21051419)

SCN3B (11 q24.1)

Sodium channel, voltage-gated, type III, beta subunit

Atrial fibrillation , 17 - (AD)

10.174

Li, R.-G., Wang, Q., Xu, Y.-J., Zhang, M., Qu, X.-K., Liu, X., Fang, W.-Y., Yang, Y.-Q. Mutations of the SCN4B-encoded sodium channel beta-4 subunit in familial atrial fibrillation. Int. J. Molec. Med. 32: 144-150, 2013. (23604097)

SCN4B (11q23.3)

Sodium channel, voltage-gated, type IV, beta subunit

Atrial fibrillation , 18 - (AD)

10.175

Orr, N., Arnaout, R., Gula, L. J., Spears, D. A., Leong-Sit, P., Li, Q., Tarhuni, W., Reischauer, S., Chauhan, V. S., Borkovich, M., Uppal, S., Adler, A., Coughlin, S. R., Stainier, D. Y. R., Gollob, M. H. A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. Nature Commun 7: 11303, 2016. (27066836)

MYL4 (17q21.32)

Myosin, Light Chain 4, Alkali, Atrial, Embryonic

Atrial standstill - (AD)

10.176

Groenewegen WA, Firouzi M, Bezzina CR, Vliex S, van Langen IM, Sandkuijl L, Smits JP, Hulsbeek M, Rook MB, Jongsma HJ, Wilde AA. A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res. 2003 Jan 10;92(1):14-22. (12522116)

GJA5 (1q21.1)

Connexin 40

Brugada syndrome 1 - (AD)

10.177

Bezzina, C.; Veldkamp, M. W.; van den Berg, M. P.; Postma, A. V.; Rook, M. B.; Viersma, J.-W.; van Langen, I. M.; Tan-Sindhunata, G.; Bink-Boelkens, M. T. E.; van der Hout, A. H.; Mannens, M. M. A. M.; Wilde, A. A. M. : A single Na+ channel mutation causing both long-QT and Brugada syndromes. Circ. Res. 85: 1206-1213, 1999. (10590249)

Rook, M. B.; Alshinawi, C. B.; Groenewegen, W. A.; van Gelder, I. C.; van Ginneken, A. C. G.; Jongsma, H. J.; Mannens, M. M. A. M.; Wilde, A. A. M. : Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc. Res. 44: 507-517, 1999. (10690282)

SCN5A (3p22.2)

Voltage-gated sodium channel type V alpha

Brugada syndrome 2 - (AD)

10.178

Weiss, R.; Barmada, M. M.; Nguyen, T.; Seibel, J. S.; Cavlovich, D.; Kornblit, C. A.; Angelilli, A.; Villanueva, F.; McNamara, D. M.; London, B. : Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. Circulation 105: 707-713, 2002. (11839626)

London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, Dudley SC Jr. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation. 2007 Nov 13;116(20):2260-8. Epub 2007 Oct 29. (17967976)

Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ. Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation. 2007 Nov 13;116(20):2253-9. Epub 2007 Oct 29. (17967977)

GPD1L (3p22.3)

Glycerol-3-phosphate dehydrogenase 1-like

Brugada syndrome 3 - (AD)

10.179

Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Ha²Øssaguerre M, Schimpf R, Borggrefe M, Wolpert C. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007 Jan 30;115(4):442-9. Epub 2007 Jan 15. (17224476)

CACNA1C (12p13.33)

Calcium channel, voltage-dependent, L type, alpha 1C subunit

Brugada syndrome 4 - (AD)

10.180

CACNB2 (10p12.33-p12.31 )

Calcium channel, voltage-dependent, beta 2 subunit

Brugada syndrome 5 - (AD)

10.181

Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J.-J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C. P., Pfeufer, A., Kaab, S., Wichmann, H.-E., Hasdemir, C., Aizawa, Y., Wilde, A. A. M., Roden, D. M., Bezzina, C. R. Sodium channel beta-1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J. Clin. Invest. 118: 2260-2268, 2008. (18464934)

SCN1B (19q13.11)

Sodium channel, voltage-gated, type I, beta subunit

Brugada syndrome 6 - (AD)

10.182

Delpon, E., Cordeiro, J. M., Nunez, L., Thomsen, P. E. B., Guerchicoff, A., Pollevick, G. D., Wu, Y., Kanters, J. K., Larsen, C. T., Hofman-Bang, J., Burashnikov, E., Christiansen, M., Antzelevitch, C. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ. Arrhythm. Electrophysiol. 1: 209-218, 2008. Note: Erratum: Circ. Arrhythm. Electrophysiol. 1: e2, 2008. [PubMed: 19122847 (19122847)

KCNE3 (11q13.4)

Potassium voltage-gated channel, Isk-related family, member 3

Brugada syndrome 7 - (AD)

10.183

Hu, D., Barajas-Martinez, H., Burashnikov, E., Springer, M., Wu, Y., Varro, A., Pfeiffer, R., Koopmann, T. T., Cordeiro, J. M., Guerchicoff, A., Pollevick, G. D., Antzelevitch, C. A mutation in the beta-3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ. Cardiovasc. Genet. 2: 270-278, 2009. (20031595)

SCN3B (11 q24.1)

Sodium channel, voltage-gated, type III, beta subunit

10.184

Ueda, K., Hirano, Y., Higashiuesato, Y., Aizawa, Y., Hayashi, T., Inagaki, N., Tana, T., Ohya, Y., Takishita, S., Muratani, H., Hiraoka, M., Kimura, A. Role of HCN4 channel in preventing ventricular arrhythmia. J. Hum. Genet. 54: 115-121, 2009. (19165230)

HCN4 (3p22.2)

Hyperpolarization activated cyclic nucleotide-gated potassium channel 4

Brugada syndrome 9 - (AD)

10.185

Giudicessi, J. R., Ye, D., Tester, D. J., Crotti, L., Mugione, A., Nesterenko, V. V., Albertson, R. M., Antzelevitch, C., Schwartz, P. J., Ackerman, M. J. Transient outward current (I-to) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm 8: 1024-1032, 2011. (21349352)

KCND3 (1p13.2)

Potassium voltage-gated channel, Shal-related subfamily, member 3

Brugada syndrome - (AD)

10.186

Shimizu A, Zankov DP, Sato A, et al. Identification of transmembrane protein 168 mutation in familial Brugada syndrome. FASEB J. 2020;34(5):6399-6417. doi:10.1096/fj.201902991R (32175648)

TMEM168 (7q31.1 )

Transmembrane protein 168

Sick sinus syndrome 1 - (AD)

10.187

Benson, D. W.; Wang, D. W.; Dyment, M.; Knilans, T. K.; Fish, F. A.; Strieper, M. J.; Rhodes, T. H.; George, A. L., Jr. : Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J. Clin. Invest. 112: 1019-1028, 2003. (14523039)

SCN5A (3p22.2)

Voltage-gated sodium channel type V alpha

Sick sinus syndrome 2 - (AR)

10.188

Milanesi, R.; Baruscotti, M.; Gnecchi-Ruscone, T.; DiFrancesco, D. Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. New Eng. J. Med. 354: 151-157, 2006. (16407510)

HCN4 (3p22.2)

Hyperpolarization activated cyclic nucleotide-gated potassium channel 4

10.189

Holm, H., Gudbjartsson, D. F., Sulem, P., Masson, G., Helgadottir, H., Zanon, C., Magnusson, O., Helgason, A., Saemundsdottir, J., Gylfason, A., Stefansdottir, H., Gretarsdottir, S., and 18 others. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nature Genet. 43: 316-320, 2011. (21378987)

MYH6 (14q12)

Myosin heavy chain 6

GeneTable of Neuromuscular Disorders