Cardiomyopathy, Familial Hypertrophic, 17; Cmh17

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Cardiomyopathy, Familial Hypertrophic, 17; Cmh17

JPH2

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Cardiomyopathy, Familial Hypertrophic, 17; Cmh17

Cardiomyopathy
Dilatation
Dyspnea
Hypertrophic cardiomyopathy
Tachycardia
Ventricular hypertrophy
Palpitations
Left ventricular hypertrophy
Ventricular tachycardia
Myocardial fibrosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Cardiomyopathy, Familial Hypertrophic, 17; Cmh17 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Cardiac Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...) View the complete list with 86 more genes Panel complete gene list RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, CACNA1C, CACNA2D1, PRDM16, CACNB2, JPH2, ACTC1, CALM1, CALM2, CASQ2, CAV3, CBL, SHOC2, LDB3, ANKRD1, MYLK2, ACTN2, SLMAP, HCN4, NEBL, RANGRF, TRPM4, FKRP, MTO1, SCN3B, MYPN, DOLK, CRYAB, CSRP3, NKX2-5, TMEM70, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, AGL, EMD, FKTN, FHL1, AKAP9, GAA, ALMS1, GLA, ANK2, HRAS, ABCC9, ILK, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LMNA, MAP2K1, MAP2K2, MYBPC3, MYH6, MYH7, MYL2, MYL3, NRAS, PKP2, PLN, ACADVL, PRKAG2, BAG3, PTPN11, RAF1 Specificity 1 % Genes 100 %
Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...) View the complete list with 92 more genes Panel complete gene list RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3, TNNT2, MED12, TPM1, TTN, TTR, VCL, ACTA2, MYOZ2, SLC2A10, CACNA1C, CACNB2, JPH2, ACTC1, CAV3, CBL, SHOC2, CBS, LDB3, OBSCN, ANKRD1, MYLK2, ACTN2, HCN4, NEBL, TRPM4, TXNRD2, SPRED1, SCN3B, PDLIM3, COL3A1, COL5A1, COL5A2, COX15, MYPN, CRYAB, CSRP3, CTF1, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBN1, FBN2, FKTN, FLNA, AKAP9, FXN, GAA, GLA, ANK2, HRAS, ABCC9, ILK, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KRAS, LAMA4, LAMP2, LMNA, SMAD3, MAP2K1, MAP2K2, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, NOTCH1, NRAS, PKP2, PLN, PLOD1, PRKAG2, BAG3, PTPN11, RAF1 Specificity 1 % Genes 100 %
Hypertrophic Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCO2, SURF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, CAV3, LDB3, OBSCN, ANKRD1, MYLK2, ACTN2, COX15 , (...) View the complete list with 16 more genes Panel complete gene list SCO2, SURF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, CAV3, LDB3, OBSCN, ANKRD1, MYLK2, ACTN2, COX15, MYPN, CSRP3, NEXN, FXN, GAA, GLA, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, RAF1 Specificity 3 % Genes 100 %
Pan Cardiomyopathy Panel (62 Genes). By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, JPH2, ACTC1, CASQ2, CAV3, LDB3 , (...) View the complete list with 41 more genes Panel complete gene list RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, JPH2, ACTC1, CASQ2, CAV3, LDB3, ANKRD1, MYLK2, ACTN2, NEBL, CHRM2, PDLIM3, MYPN, DOLK, CRYAB, CSRP3, RBM20, DES, TMEM43, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, EMD, CAVIN4, FHL2, GLA, ABCC9, ILK, JUP, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, BAG3, PTPN11, RAF1 Specificity 2 % Genes 100 %
Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, TAZ, TCAP, TGFB3, TMPO, TNNC1, TNNI3, TNNT2, TPM1 , (...) View the complete list with 65 more genes Panel complete gene list RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SGCA, SGCB, SGCD, SGCG, SLC25A4, SNTA1, TAZ, TCAP, TGFB3, TMPO, TNNC1, TNNI3, TNNT2, TPM1, MYOT, TTN, TTR, VCL, MYOZ2, CACNA1C, CACNB2, JPH2, ACTC1, CASQ2, CAV3, LDB3, OBSCN, ANKRD1, MYLK2, ACTN2, SYNE1, TRPM4, FKRP, CORIN, SCN3B, COX15, MYPN, CSRP3, CTF1, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKTN, AKAP9, FXN, GAA, GLA, ANK2, ABCC9, ILK, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL3, LAMA4, LAMP2, LMNA, MYBPC3, MYH10, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2 Specificity 2 % Genes 100 %
Comprehensive Cardiomyopathy Panel. By GeneDx (United States). RYR2, SCN5A, SGCD, BRAF, SOS1, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, CAV3, LDB3 , (...) View the complete list with 56 more genes Panel complete gene list RYR2, SCN5A, SGCD, BRAF, SOS1, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, CAV3, LDB3, ANKRD1, MYLK2, ACTN2, NEBL, PDLIM3, MYPN, CRYAB, CSRP3, RBM20, DES, TMEM43, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GLA, HRAS, ABCC9, ILK, JUP, KRAS, LAMA4, LAMP2, LMNA, MAP2K1, MAP2K2, MT-ND1, MT-ND5, MT-ND6, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, MT-TS1, MT-TS2, MYBPC3, MYH7, MYL2, MYL3, NRAS, PKP2, PLN, PRKAG2, BAG3, PTPN11, RAF1 Specificity 2 % Genes 100 %
CardioNext with TTN. By Ambry Genetics (United States). RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB3, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR , (...) View the complete list with 65 more genes Panel complete gene list RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TAZ, TBX1, TBX20, TBX5, TCAP, TGFB3, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, CACNA1C, CACNA2D1, CACNB2, JPH2, ACTC1, CALM1, CASQ2, CAV3, LDB3, ANKRD1, ACTN2, HCN4, TRPM4, TXNRD2, SCN3B, MYPN, CRYAB, CSRP3, NKX2-5, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, EMD, EYA4, FKTN, AKAP9, FXN, GATA4, GLA, ANK2, ABCC9, JAG1, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, BAG3, PTPN11, RAF1 Specificity 2 % Genes 100 %
CMNext with TTN. By Ambry Genetics (United States). RYR2, SCN5A, TAZ, TBX20, TCAP, TGFB3, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, LDB3, ANKRD1, ACTN2 , (...) View the complete list with 35 more genes Panel complete gene list RYR2, SCN5A, TAZ, TBX20, TCAP, TGFB3, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, LDB3, ANKRD1, ACTN2, TXNRD2, MYPN, CRYAB, CSRP3, NKX2-5, RBM20, DES, TMEM43, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, EMD, EYA4, FKTN, FXN, GLA, ABCC9, JUP, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, BAG3, PTPN11, RAF1 Specificity 2 % Genes 100 %

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Sources and references

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