Table 1 Details of gene–disease pairs currently analyzed by CardioClassifier

From: CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation

Disease

Disease class

Genes

Total genes

DCM

Cardiomyopathy

LMNA, TNNT2, SCN5A, TTN, TCAP, MYH7, VCL, TPM1, TNNC1, RBM20, DSP, BAG3

12

HCM

Cardiomyopathy

MYH7, TNNT2, TPM1, MYBPC3, PRKAG2, TNNI3, MYL3, MYL2, ACTC1, CSRP3, PLN, TNNC1, GLA, FHL1, LAMP2, GAA

16

ARVD/C

Cardiomyopathy

DSP, PKP2, DSG2, DSC2, JUP

5

RCM

Cardiomyopathy

TNNI3

1

ncCM

Cardiomyopathy

MYBPC3, MYH7

2

Noonan syndrome

Cardiomyopathy

RAF1, SOS1, PTPN11, KRAS

4

Long QT syndrome

Arrhythmia

KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2

5

Brugada syndrome

Arrhythmia

SCN5A

1

CPVT

Arrhythmia

RYR2

1

Marfan syndrome

Aortopathy

FBN1

1

FH

—

LDLR

1

  1. CPVT, atecholaminergic polymorphic ventricular tachycardia; DCM, dilated cardiomyopathy; HCM, hypertrophic cardiomyopathy; ARVD/C, arrhythmogenic right ventricular dysplasia/cardiomyopathy; FH, familial hypercholesterolemia; ncCM, non-compaction cardiomyopathy; RCM, restrictive cardiomyopathy.
  2. The disease class column details the larger subpanels relating to broad disorder types that each disease and gene set are within.
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