Table 2 De novo coding variants in candidate cardiomyopathy genes

Fam003

HCM

Ptosis; congestive heart failure; delayed gross motor development; and feeding difficulties

chr19:1,061,809 G > T

ABCA7

–

Missense

c.5491G > T

p.Ala1831Ser

–

Fam027

DCM

Failure to thrive

chr4:13,376,561 T > C

RAB28

–

Missense

c.557A > G

p.Glu186Gly

–

Fam043

ARVC

Dilated cardiomyopathy; cardiac arrest; palpitations; abnormal atrioventricular conduction; and arrhythmia

chr19:899,621 G > C

R3HDM4

–

Stop gained

c.627C > G

p.Tyr209Ter

–

Fam061

HCM

Left ventricular dysfunction

chr1:39,297,744 T > TG

MACF1

–

Frameshift, splice region

c.2481 + 1dup

–

–

Fam062

LVNC

Failure to thrive; small for gestational age; ventricular septal defect; restrictive cardiomyopathy; hypertrophic cardiomyopathy; dyspnoea; and right ventricular cardiomyopathy

chr12:49,128,718 T > C

TUBA1B

1

Missense

c.596A > G

p.Asp199Gly

–

Fam137b

DCM

Congestive heart failure; dyspnoea; arrhythmia; and bundle branch block

chr14:77,887,137 C > G

ADCK1

3

Missense

c.470C > G

p.Ala157Gly

–

Fam137a

DCM

Hypertension; palpitations

chr4:127,764,330 C > T

SLC25A31

–

Stop gained

c.448C > T

p.Arg150Ter

rs1464153404

Fam190

HCM

–

chrX:118,608,357 G > C

DOCK11

2

Splice donor

c.2877 + 1G > C

–

–

Fam197

DCM

Syncope; arrhythmia

chr19:48,627,746 C > T

SPHK2

1

Missense

c.566C > T

p.Pro189Leu

–

Fam225

DCM

Arrhythmia; dyspnoea; nonorganic psychosis; self-harm; eating disorder; and deceased

chr17:41,909,667 G > A

ACLY

–

Stop gained

c.379C > T

p.Arg127Ter

rs1555633336

chr15:55,360,123 T > TTTA

CCPG1

Inframe insertion

c.1647_1649dup

p.Asn549dup

–

Fam231

HCM

Syncope; restrictive cardiomyopathy; and dyspnoea

chr14:59,263,526 T > C

DAAM1

2

Missense

c.49 T > C

p.Cys17Arg

–

Fam252

DCM

Failure to thrive; congestive heart failure; and dyspnoea

chr1:110,674,209 C > A

KCNA3

1

Stop gained

c.601G > T

p.Glu201Ter

–

Fam303

DCM

Eczema; umbilical hernia; and ventricular septal defect

chr1:202,729,832 C > A

KDM5B

3

Stop gained

c.4372G > T

p.Glu1458Ter

–

Fam313

DCM

Café au lait spot; pulmonic stenosis; dyspnoea; tricuspid regurgitation; right ventricular cardiomyopathy; and dysplastic tricuspid valve

chr5:90,642,886 C > T

ADGRV1

3

Stop gained

c.2398C > T

p.Arg800Ter

rs373780305

Fam373

HCM

Palpitations; arrhythmia

chrX:136,682,757 C > G

ARHGEF6

–

Splice donor

c.1479 + 1G > C

–

–

Fam484

LVNC

Intellectual disability; joint hypermobility; Wolff–Parkinson–White; and palpitations

chr15:80,173,016 C > T

FAH

–

Stop gained, splice region

c.709C > T

p.Arg237Ter

rs769550316

Fam499

HCM

Multifactorial inheritance; familial predisposition; cardiac arrest; and deceased

chr2:240,462,562 G > A

GPC1

–

Missense

c.697G > A

p.Val233Met

rs748327513

Fam543

HCM

Angina pectoris; restrictive cardiomyopathy

chr22:18,083,639 C > T

PEX26

–

Stop gained

c.574C > T

p.Arg192Ter

rs61752136

Fam567

HCM

Thin upper lip vermillion; pointed chin; broad forehead; and long palpebral fissure

chr11:47,245,544 G > C

ACP2

–

Missense

c.479C > G

p.Pro160Arg

–

chr21:21,418,570 G > T

NCAM2

–

Splice donor

c.1480 + 1G > T

–

–

Fam571

DCM

Failure to thrive; congestive heart failure; and dyspnoea

chr10:133,186,264 C > T

KNDC1

2

Stop gained

c.916C > T

p.Gln306Ter

–

Fam659b

LVNC

Atrial septal defect; atrioventricular block; asthma; and abnormal ventricular septum morphology

chr5:141,398,519 C > G

PCDHGB5

–

Missense

c.392C > G

p.Pro131Arg

rs780671252

Fam728

LVNC

Aortic valve stenosis; aortic regurgitation; and pulmonary insufficiency

chr2:237,344,691 C > T

COL6A3

–

Missense

c.7327G > A

p.Ala2443Thr

rs1345727801

Fam733

HCM

–

chr15:22,933,819 G > T

CYFIP1

1

Stop gained

c.975C > A

p.Tyr325Ter

–

Fam806

LVNC

Primum atrial septal defect

chr19:10,143,859 C > T

DNMT1

–

Missense

c.3023G > A

p.Arg1008Gln

rs746527645

chr16:17,198,230 G > A

XYLT1

–

Missense

c.1271C > T

p.Ala424Val

rs148488379

Fam862

DCM

–

chr8:63,026,259 G > T

GGH

–

Missense

c.398C > A

p.Thr133Lys

–

Fam906

HCM

Hypertension

chr6:98,899,282 G > A

FBXL4

–

Stop gained

c.1303C > T

p.Arg435Ter

rs201889294