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. Author manuscript; available in PMC: 2024 Feb 5.
Published in final edited form as: Annu Rev Med. 2023 Oct 3;75:417–426. doi: 10.1146/annurev-med-052422-020535

Table 1.

Genes causing dilated cardiomyopathy

Gene Gene symbol Mode of inheritance Classificationa
ATP Binding Cassette Subfamily C Member 9 ABCC9 AD Limited
Actin Alpha Cardiac Muscle 1 ACTCI AD Moderate
Ankyrin Repeat Domain 1 ANKRDI AD Limited
BAG Cochaperone 3 BAG3 AD Definitive
Cysteine And Glycine Rich Protein 3 CSRP3 AD Limited
Cardiotrophin 1 CTFI AD Limited
Desmin DES AD Definitive
Desmoglein 2 DSG2 AD Limited
Desmoplakin DSP AD Definitiveb
Dystrobrevin Alpha DTNA AD Limited
EYA Transcriptional Coactivator And Phosphatase 4 EYA4 AD Limited
Filamin C FLNC AD Definitive
GATA Zinc Finger Domain Containing 1 GATADI AR Limited
Integrin Linked Kinase ILK AD Limited
Junctophilin 2 JPH2 AR Moderate
Laminin Subunit Alpha 4 LAMA4 AD Limited
LIM Domain Binding 3 LDB3 AD Limited
Lamin A/C LMNA AD Definitive
Leucine Rich Repeat Containing 10 LRRC10 AR NKDR/AMO
MIB E3 Ubiquitin Protein Ligase 1 MIB1 AD NKDR/AMO
Myosin Binding Protein C 3 MYBPC3 AD Limited
Myosin Heavy Chain 6 MYH6 AD Limited
Myosin Heavy Chain 7 MYH7 AD Definitive
Myosin Light Chain 2 MYL2 AD Limited
Myosin Light Chain 3 MYL3 AD Disputed
Myopalladin MYPN AD Limited
Nebulette NEBL AD Limited
Nexilin F-Actin Binding Protein NEXN AD Moderate
NK2 Homeobox 5 NKX2–5 AD Limited
Natriuretic Peptide A NPPA AR NKDR
Obscurin OBSCN AD Limited
PDZ And LIM Domain 3 PDLIM3 AD Disputed
Phospholamban PLN AD Moderateb
Plakophillin 2 PKP2 AD Disputed
Pleckstrin Homology And RUN Domain Containing M2 PLEKHM2 AR Limited
PR/SET Domain 16 PRDM16 AD Limited
Presenilin 1 PSEN1 AD Disputed
Presenilin 2 PSEN2 AD Limited
RNA Binding Motif Protein 20 RBM20 AD Definitive
Sodium Voltage-Gated Channel Alpha Subunit 5 SCN5A AD Definitive
Sarcoglycan Delta SGCD AD Limited
T-Box Transcription Factor 20 TBX20 AD Limited
Titin-Cap TCAP AD Limited
Transmembrane Protein 43 TMEM43 AD Definitiveb
Troponin C1, Slow Skeletal And Cardiac Type TNNC1 AD Definitive
Troponin I3, Cardiac Type TNNI3 AD Moderate
TNNI3 Interacting Kinase TNNI3K AD Limited
Troponin T2, Cardiac Type TNNT2 AD Definitive
Tropomyosin 1 TPM1 AD Moderate
Titin TTN AD Definitive
Vinculin VCL AD Moderate
b

In arrhythmogenic right ventricular cardiomyopathy.

Abbreviations: AD, autosomal dominant; AMO, animal model only; AR, autosomal recessive; NKDR, no known disease relationship.