Long Qt Syndrome 3; Lqt3

Table of contents:

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

Description

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (OMIM ).

Genes related to Long Qt Syndrome 3; Lqt3

SCN5A

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Clinical Features

Top most frequent phenotypes and symptoms related to Long Qt Syndrome 3; Lqt3

Seizures
Arrhythmia
Sudden cardiac death
Syncope
Cardiac arrest
Ventricular arrhythmia
Atrioventricular block
Ventricular fibrillation
Prolonged QT interval
Epileptic spasms

And another 4 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.

Long Qt Syndrome 3; Lqt3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies. By Athena Diagnostics Inc (United States). SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...) View the complete list with 64 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR, ALG9, SLC19A3, EFHC1, LIAS, SCARB2, HCN4, BCKDK, PRICKLE1, CPA6, PRIMA1, DEPDC5, STX1B, KCNT1, ASPM, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, PRICKLE2, MBD5, L2HGDH, NHLRC1, BRAT1, KCTD7, ABAT, PIGO, CRH, CSTB, CYP27A1, ADSL, TBC1D24, DYNC1H1, PNPO, PRRT2, ALG13, EPM2A, FOLR1, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GATM, GLDC, ALPL, GOSR2, GRIN2A, GRIN2B, AMT, HCN1, KCNC1, KCNH2, KCNMA1, KCNQ2, KCNQ3, LGI1, LMNB2, ASAH1, NDUFA1, ATP1A3, ALDH7A1, PHGDH Specificity 2 % Genes 100 %
Epilepsy Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc (United States). SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...) View the complete list with 214 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SUCLA2, SYN1, SYNGAP1, SYNJ1, SYP, TBX1, TCF4, TREX1, TSC1, TSC2, TUBA8, UBE3A, WWOX, SLC4A10, CNTNAP2, CACNA1A, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, PCDH19, SLC25A19, ARHGEF9, DEAF1, ZEB2, CASK, CASR, SETBP1, ALG9, ARFGEF2, PANK2, PLCB1, SAMHD1, DNAJC5, SLC19A3, EFHC1, LIAS, RAB39B, SCARB2, HCN4, BCKDK, PRICKLE1, RAB3GAP1, CPA6, CENPJ, ADGRV1, NDE1, FKRP, ARX, SPATA5, PHF6, RBFOX1, ATP6AP2, PRIMA1, SETD2, DEPDC5, ATP6V0A2, RNASEH2A, STX1B, KCNT1, MAGI2, ASPM, VPS13A, POMGNT1, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNA7, CHRNB2, POMT2, SLC25A22, PRICKLE2, MBD5, L2HGDH, TPP1, CLN3, CLN5, TUBA1A, CLN6, CLN8, ANKRD11, NHLRC1, BRAT1, VPS13B, KCTD7, COL4A1, ABAT, SLC13A5, PIGO, CPT2, KIF1BP, CRH, RNASEH2C, WDR62, KANSL1, SMC3, CSTB, CTSD, CTSF, CUL4B, OFD1, RNASEH2B, PIGV, CYP27A1, DCX, TSEN54, MFSD8, NIPBL, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, NEXMIF, ROGDI, TBL1XR1, DYNC1H1, DNM1, DPYD, ATP13A2, PNPO, PRRT2, SRPX2, TUBB2B, ALG13, DYRK1A, EEF1A2, EMX2, EPM2A, FKTN, FGD1, FGFR3, FLNA, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GATM, GFAP, GLDC, ALPL, GNAO1, GOSR2, GPC3, ADGRG1, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, AMT, HSD17B10, HCN1, HNRNPU, HPRT1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH2, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, LAMA2, LARGE1, LBR, LGI1, LMNB2, MCPH1, MECP2, MEF2C, KMT2D, ASAH1, NDUFA1, NOTCH3, NR2F1, ATP1A2, NRXN1, ATP1A3, ATP2A2, OPHN1, PAFAH1B1, PAK3, PAX6, ALDH7A1, ATRX, PEX7, PHGDH, SERPINI1, PIGA, PIGN, PLA2G6, PLP1, PNKP, POLG, POMT1, PPT1, PQBP1, PURA, QARS, RAI1, RELN Specificity 1 % Genes 100 %
NGS Epilepsy/Seizure Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...) View the complete list with 124 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1, TCF4, TGIF1, TSC1, TSC2, TUBB2A, UBE3A, ZIC2, CNTNAP2, CACNA1A, CACNA2D1, CACNB4, PCDH19, SLC25A19, ARHGEF9, ZEB2, CASK, CASR, TSEN34, VANGL1, ARFGEF2, PLCB1, PCNT, EFHC1, LIAS, SCARB2, PRICKLE1, CDON, CENPJ, NDE1, EXOSC3, ARX, PHF6, ATP6AP2, DEPDC5, CDK5RAP2, KCNT1, MAGI2, ASPM, NALCN, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNB2, SLC25A22, FLVCR2, CLCN2, PRICKLE2, MBD5, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, ABAT, SLC13A5, WDR62, NECAP1, KANSL1, CSTB, CTSD, DCX, TSEN54, TSEN2, MFSD8, SZT2, IQSEC2, ADSL, TBC1D24, CEP152, PNPO, PRRT2, DYRK1A, EMX2, EPM2A, FLNA, FOLR1, FOXG1, FOXH1, MTOR, ABCB1, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GATM, GLI2, GOSR2, ADGRG1, GRIN1, GRIN2A, GRIN2B, HNRNPU, KCNA1, KCNAB1, KCNJ10, KCNJ11, KCNQ2, KCNQ3, LGI1, MCPH1, MECP2, MEF2C, MTHFR, NDUFA1, NEDD4L, NODAL, ATP1A2, NRXN1, OPHN1, PAFAH1B1, ALDH7A1, ATR, PIGA, PNKP, POLG, PPT1, PTCH1, QARS, RELN Specificity 1 % Genes 100 %
Brugada Syndrome Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SCN1B, SCN2B, SCN5A, CACNA1C, CACNB2, SLMAP, HCN4, TRPM4, SCN3B, GPD1L, ABCC9, KCND3, KCNE3, KCNH2, KCNJ8, PKP2 Specificity 7 % Genes 100 %
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 %
Long QT Syndrome Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR2, SCN4B, SCN5A, SNTA1, TRDN, CACNA1C, CALM1, CALM2, CASQ2, CAV3, AKAP9, ANK2, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1 Specificity 6 % 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 %

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Sources and references

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OMIM Genetic Syndrome Finder

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