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CACNA1C

Short QT Syndrom (SQT)

CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1

Brugada Syndrom (BrS), Basisdiagnostik

CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN5A, TRPM4

Hypertrophe Kardiomyopathie (HCM), erweiterte Diagnostik

ANKRD1, CACNA1C, CASQ2, DES, JPH2, MYH6, PLN, PRKAG2

Katecholaminerge polymorphe ventrikuläre Tachykardie (CPVT), erweiterte Diagnostik

ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ5, KCNQ1, PKP2, SCN1B, SCN4B, SCN5A, SNTA1, TRPM4

Long QT Syndrom (LQT) / Romano-Ward Syndrom, Basisdiagnostik

CACNA1C, CAV3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1

Autismus, syndromal, erweiterte Diagnostik

ALDH5A1, AP1S2, ARX, ATRX, AUTS2, BRAF, CACNA1C, CASK, CHD7, CHD8, CNTNAP2, DHCR7, DPP6, FGD1, FOXG1, FOXP2, GRIN2B, HPRT1, KDM5C, L1CAM, MBD5, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, OPHN1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTPN11, RAB39B, SCN1A, SHANK2, SHANK3, SLC9A6, SMARCB1, SMC1A, SMC3, TSC1, TSC2, UBE2A, VPS13B

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