Table 2.

Nonsyndromic Dilated Cardiomyopathy Genes

Gene 1MOI% of DCM Caused by Pathogenic Variants in Gene 2 ClinGen Gene Validity Classification Distinguishing FeaturesAllelic Disorders 3OMIM Gene Entry
TTN 4AD15%-20%DefinitiveDCM is assoc w/truncating variantsLGMD2J; hereditary myopathy w/early respiratory failure; Udd distal myopathy–tibial muscular dystrophy; Salih myopathy; HCM 188840
LMNA AD6%DefinitiveArrhythmia & conduction system diseaseSelected examples: partial lipodystrophy; CMT2B1 (See CMT Overview.); Emery-Dreifuss muscular dystrophy; Hutchinson-Gilford progeria syndrome 150330
MYH7 AD4%DefinitiveLaing distal myopathy; HCM; myosin storage myopathy; scapuloperoneal myopathy 160760
FLNC AD2%-4%DefinitiveArrhythmia & conduction system diseaseMyofibrillar myopathy; HCM; RCM; distal myopathy 102565
BAG3 AD3%DefinitiveMyofibrillar myopathy 603883
TNNT2 AD3%DefinitiveHCM; RCM 191045
RBM20 5AD2%DefinitiveArrhythmia & conduction system disease; DCM is assoc w/hot spot in exon 9. 613171
SCN5A AD2%DefinitiveArrhythmia & conduction system diseaseSelected examples: Long QT syndrome; Brugada syndrome; idiopathic ventricular fibrillation 600163
DES AD<1%DefinitiveArrhythmia & neuromuscular involvementMyofibrillar myopathy; neurogenic scapuloperoneal syndrome, Kaeser type 125660
PLN AD<1%DefinitiveArrhythmia & conduction system disease HCM 172405
TNNC1 AD<1%Definitive HCM 191040
DSP ADUnknownStrongArrhythmia & conduction system disease; possible right ventricular involvementArrhythmogenic right ventricular cardiomyopathy; epidermolysis bullosa, lethal acantholytic; keratosis palmoplantaris striata II; skin fragility-woolly hair syndrome; Carvajal syndrome 125647
ACTC1 AD<1%ModerateHCM; atrial septal defect 102540
ACTN2 AD<1%ModerateHCM; myopathy 102573
TPM1 AD<1%Moderate HCM 191010
UnknownModerate HCM 605267
NEXN ADUnknownModerate HCM 613121
<1%ModerateHCM; RCM 191044
VCL ADUnknownModerate HCM 193065
MYH6 AD4%LimitedHCM; atrial septal defect 160710
MYPN AD3%LimitedRCM; HCM; nemaline myopathy 608517
MYBPC3 AD2%Limited HCM 600958
CSRP3 AD<1%Limited HCM 600824
ILK AD<1%Limited 602366
LAMA4 AD<1%Limited 600133
LDB3 AD<1%LimitedHCM; myofibrillar myopathy605906,
PSEN2 AD<1%LimitedEarly-onset Alzheimer disease 600759
SGCD AD<1%LimitedLGMD2F / LGMDR6 601411
TCAP AD<1%LimitedHCM; LGMD2G / LGMDR7 604488
ABCC9 ADUnknownLimitedFamilial atrial fibrillation; Cantú syndrome (hypertrichotic osteochondrodysplasia) 601439
ANKRD1 ADUnknownLimited 609599
CTF1 ADUnknownLimited 600435
DSG2 ADUnknownLimitedPossible right ventricular involvement Arrhythmogenic right ventricular cardiomyopathy 125671
DTNA ADUnknownLimitedCongenital heart defects 601239
EYA4 ADUnknownLimitedHearing lossDFNA10 nonsyndromic hearing loss & deafness (See Hereditary Hearing Loss and Deafness Overview.) 603550
GATAD1 ARUnknownLimited 614518
MYL2 ADUnknownLimited HCM 160781
NEBL ADUnknownLimited 605491
NKX2-5 ADUnknownLimitedCongenital heart defects 600584
OBSCN ADUnknownLimited 608616
PLEKHM2 ARUnknownLimited 609613
PRDM16 ADUnknownLimited 605557
TBX20 ADUnknownLimitedAtrial septal defect 606061
TNNI3K ADUnknownLimitedArrhythmia & conduction system diseaseCardiac conduction disease 613932

See Dilated Cardiomyopathy: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM.

AD = autosomal dominant; AR = autosomal recessive; CMT = Charcot-Marie-Tooth hereditary neuropathy; HCM = hypertrophic cardiomyopathy; LGMD = limb-girdle muscular dystrophy; LGMDR = limb-girdle muscular dystrophy autosomal recessive; MOI = mode of inheritance; RCM = restrictive cardiomyopathy; XL = X-linked


Genes are organized first by strength of ClinGen classification, then frequency of causation of DCM, and then alphabetically.


The percentages provided (based on ≥2 reports screening large numbers of probands with HNDCM) should be interpreted as preliminary estimates.


Allelic disorders = other phenotypes caused by pathogenic variants in the same gene.


Note: Although 10%-20% of DCM in three cohorts (with or without a family history of DCM) was attributed to TTN pathogenic truncating variants [Herman et al 2012], determining the role of pathogenic variants in TTN in DCM is difficult given that: (a) 3% of controls also have truncating variants; and (b) TTN pathogenic truncating variants have not segregated with DCM in all families with DCM [Norton et al 2013]. Truncating TTN variants found in individuals with DCM have been reported to cluster in the A-band region of titin, the protein encoded by TTN [Roberts et al 2015]. To date, TTN missense variants have not been associated with disease.


The hot spot for pathogenic and likely pathogenic variants associated with DCM is located in exon 9 of RBM20; it is unclear if non-hot spot variants in RBM20 can be associated with DCM.


From: Dilated Cardiomyopathy Overview

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