Cardiomyopathy, Dilated, 1aa, With Or Without Left Ventricular Noncompaction; Cmd1aa

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, Dilated, 1aa, With Or Without Left Ventricular Noncompaction; Cmd1aa

ACTN2

Clinical Features

Top most frequent phenotypes and symptoms related to Cardiomyopathy, Dilated, 1aa, With Or Without Left Ventricular Noncompaction; Cmd1aa

Cardiomyopathy
Atrial septal defect
Congestive heart failure
Dilatation
Arrhythmia
Dyspnea
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Tachycardia
Sudden cardiac death

And another 30 symptoms. If you need more information about this disease we can help you.

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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, Dilated, 1aa, With Or Without Left Ventricular Noncompaction; Cmd1aa 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 %
Dilated & Arrhythmogenic Cardiomyopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...) View the complete list with 31 more genes Panel complete gene list RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL, MYPN, DOLK, CRYAB, CSRP3, RBM20, DES, TMEM43, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, EMD, GLA, JUP, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, BAG3, PTPN11, RAF1 Specificity 2 % Genes 100 %
Hypertrophic Cardiomyopathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, MYOZ2, ACTC1, ACTN2, CSRP3, NEXN, DSG2, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN , (...) View the complete list with 3 more genes Panel complete gene list TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, MYOZ2, ACTC1, ACTN2, CSRP3, NEXN, DSG2, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2, PTPN11, RAF1 Specificity 5 % Genes 100 %
Hypertrophic cardiomyopathy - full panel. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada). TNNC1, TNNI3, TNNT2, TPM1, TTR, MYOZ2, ACTC1, CAV3, ACTN2, CSRP3, NEXN, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2 Specificity 6 % Genes 100 %
Dilated cardiomyopathy - full panel. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada). SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ACTN2, CSRP3, CTF1, RBM20, DES, NEXN, EMD, ABCC9, LAMP2 , (...) View the complete list with 5 more genes Panel complete gene list SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ACTN2, CSRP3, CTF1, RBM20, DES, NEXN, EMD, ABCC9, LAMP2, LMNA, MYBPC3, MYH6, MYH7, PLN Specificity 4 % Genes 100 %
Dilated cardiomyopathy - familial variant analysis. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada). SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ACTN2, CSRP3, CTF1, RBM20, DES, NEXN, EMD, ABCC9, LAMP2 , (...) View the complete list with 5 more genes Panel complete gene list SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ACTN2, CSRP3, CTF1, RBM20, DES, NEXN, EMD, ABCC9, LAMP2, LMNA, MYBPC3, MYH6, MYH7, PLN Specificity 4 % Genes 100 %
Hypertrophic cardiomyopathy - familial variant analysis. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada). TNNC1, TNNI3, TNNT2, TPM1, TTR, MYOZ2, ACTC1, CAV3, ACTN2, CSRP3, NEXN, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2 Specificity 6 % Genes 100 %
Pan-cardiomyopathy panel. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada). RYR2, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, ACTC1, CASQ2, CAV3, LDB3, ANKRD1, MYLK2, ACTN2, CRYAB , (...) View the complete list with 25 more genes Panel complete gene list RYR2, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, ACTC1, CASQ2, CAV3, LDB3, ANKRD1, MYLK2, ACTN2, CRYAB, CSRP3, CTF1, RBM20, DES, TMEM43, NEXN, DSC2, DSG2, DSP, EMD, FHL2, GLA, ABCC9, JUP, LAMA4, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PRKAG2 Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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